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Gene Symbol NOTCH1
Synonyms AOS5 | AOVD1 | hN1 | TAN1
Gene Description NOTCH1, neurogenic locus notch homolog protein 1, is a transmembrane receptor, which plays a role in cell fate determination, growth, survival (PMID: 25388163) and chemoresistance (PMID: 29998084). Activating Notch1 mutations are common in T-cell lymphoblastic leukemia/lymphoma (PMID: 22006338, PMID: 30103821), chronic lymphocytic leukemia (PMID: 29998084) and amplification and/or overexpression has been observed in bladder (PMID: 29643502), colorectal (PMID: 30136202, PMID: 30043645), and gastric cancers (PMID: 30043645).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A1125V missense unknown NOTCH1 A1125V lies within the EGF-like domain 29 of the Notch1 protein (UniProt.org). A1125V has been identified in sequencing studies (PMID: 27558455), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
A1436V missense unknown NOTCH1 A1436V lies within the extracellular domain of the Notch1 protein (UniProt.org). A1436V has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
A1552G missense gain of function - predicted NOTCH1 A1552G lies within LNR repeat 3 of the Notch1 protein (UniProt.org). A1552G is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
A1552V missense gain of function - predicted NOTCH1 A1552V lies within LNR repeat 3 of the Notch1 protein (Uniprot.org). A1552V is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
A1570G missense gain of function - predicted NOTCH1 A1570G lies within LNR repeat 3 of the Notch1 protein (Uniprot.org). A1570G is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
A1634V missense unknown NOTCH1 A1634V lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). A1634V has been identified in sequencing studies (PMID: 22225590), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
A1640T missense unknown NOTCH1 A1640T lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). A1640T has been identified in sequencing studies (PMID: 22225590), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
A1701P missense gain of function NOTCH1 A1701P lies within the HD-C domain of the Notch1 protein (PMID: 16738328). A1701P (reported as A1702P) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
A1707T missense gain of function - predicted NOTCH1 A1707T lies within the HD-C domain of the Notch1 protein (PMID: 16738328). A1707T is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
A2036V missense unknown NOTCH1 A2036V lies within ANK repeat 4 of the Notch1 protein (UniProt.org). A2036V has been identified in sequencing studies (PMID: 29377909), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
A2101T missense unknown NOTCH1 A2101T lies within ANK repeat 6 of the Notch1 protein (UniProt.org). A2101T has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
A2256fs frameshift unknown NOTCH1 A2256fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2256 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). A2256fs has been identified in the scientific literature (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown.
A2331T missense unknown NOTCH1 A2331T lies within the cytoplasmic domain of the Notch1 protein (UniProt.org). A2331T has been identified in sequencing studies (PMID: 18593716), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
A2356V missense unknown NOTCH1 A2356V lies within the cytoplasmic domain of the Notch1 protein (UniProt.org). A2356V has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
A2441fs frameshift unknown NOTCH1 A2441fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2441 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). A2441fs has not been characterized individually, however, cells harboring both A2441fs and L1574P demonstrated constitutive Notch signaling in culture (PMID: 17646409).
A2441T missense unknown NOTCH1 A2441T lies within the PEST domain of the Notch1 protein (PMID: 27773930). A2441T has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
A2463fs frameshift unknown NOTCH1 A2463fs results in a change in the amino acid sequence of the Notch1 protein beginning at 2463 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). A2463fs has been identified in sequencing studies (PMID: 19794083, PMID: 29928447), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
A465P missense unknown NOTCH1 A465P lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). A465P has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
A465T missense loss of function NOTCH1 A465T lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). A465T confers a loss of function to the NOTCH1 protein, as it fails to implant in MOCK tumor cells in mice, fails to localize in the nucleus, and leads to decreased cell growth compared to wild-type in vitro (PMID: 28791383).
act mut unknown gain of function NOTCH1 act mut indicates that this variant results in a gain of function in the Notch1 protein. However the specific amino acid change has not been identified.
amp none no effect NOTCH1 amplification indicates an increased number of copies of the NOTCH1 gene. However, the mechanism causing the increase is unspecified.
C1045Y missense unknown NOTCH1 C1045Y lies within the EGF-like domain 27 of the Notch1 protein (UniProt.org). C1045Y has been identified in sequencing studies (PMID: 22895193), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C1068Y missense unknown NOTCH1 C1068Y lies within the EGF-like domain 28 of the Notch1 protein (UniProt.org). C1068Y has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
C1085W missense unknown NOTCH1 C1085W lies within the EGF-like domain 28 of the Notch1 protein (UniProt.org). C1085W has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C1085Y missense unknown NOTCH1 C1085Y lies within the EGF-like domain 28 of the Notch1 protein (UniProt.org). C1085Y has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
C1094W missense unknown NOTCH1 C1094W lies within the EGF-like domain 28 of the Notch1 protein (UniProt.org). C1094W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C1154W missense unknown NOTCH1 C1154W lies within the EGF-like domain 30 of the Notch1 protein (UniProt.org). C1154W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C1253Y missense unknown NOTCH1 C1253Y lies within the calcium-binding, EGF-like domain 32 of the Notch1 protein (UniProt.org). C1253Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
C127F missense unknown NOTCH1 C127F lies within the EGF-like domain 3 of the Notch1 protein (UniProt.org). C127F has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
C1304Y missense unknown NOTCH1 C1304Y lies within the EGF-like domain 33 of the Notch1 protein (UniProt.org). C1304Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C1345Y missense unknown NOTCH1 C1345Y lies within the EGF-like domain 34 of the Notch1 protein (UniProt.org). C1345Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C1425F missense unknown NOTCH1 C1425F lies within the EGF-like domain 36 of the Notch1 protein (UniProt.org). C1425F has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C227Y missense unknown NOTCH1 C227Y lies within the EGF-like domain 6 of the Notch1 protein (UniProt.org). C227Y has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
C344fs frameshift loss of function - predicted NOTCH1 C344fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 344 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), C344fs is predicted to lead to a loss of Notch1 protein function.
C387Y missense unknown NOTCH1 C387Y lies within the EGF-like domain 10 of the Notch1 protein (UniProt.org). C387Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
C416F missense unknown NOTCH1 C416F lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C416F has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C423W missense unknown NOTCH1 C423W lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C423W has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C429F missense unknown NOTCH1 C429F lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C429F has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C429S missense unknown NOTCH1 C429S lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C429S has been identified in the scientific literature (PMID: 26491213), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C429Y missense unknown NOTCH1 C429Y lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C429Y has been identified in sequencing studies (PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C438S missense unknown NOTCH1 C438S lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C438S has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C440F missense unknown NOTCH1 C440F lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C440F has been identified in sequencing studies (PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C440R missense unknown NOTCH1 C440R lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C440R has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C440S missense unknown NOTCH1 C440S lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C440S has been identified in sequencing studies (PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C449Y missense unknown NOTCH1 C449Y lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). C449Y has been identified in sequencing studies (PMID: 29377909), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C456R missense unknown NOTCH1 C456R lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C456R has been identified in sequencing studies (PMID: 21798897, PMID: 25633867), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C456Y missense unknown NOTCH1 C456Y lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C456Y has been identified in sequencing studies (PMID: 26873401, PMID: 24686850), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C461Y missense unknown NOTCH1 C461Y lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C461Y has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C467F missense unknown NOTCH1 C467F lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C467F has been identified in sequencing studies (PMID: 29880898), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C467Y missense unknown NOTCH1 C467Y lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C467Y has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C478F missense loss of function - predicted NOTCH1 C478F lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C478F is predicted to confer a loss of function to the Notch1 protein, as demonstrated by a loss of Notch1 reporter gene activation in cell culture (PMID: 24277854).
C478S missense unknown NOTCH1 C478S lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C478S has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C478Y missense unknown NOTCH1 C478Y lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). C478Y has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C532Y missense unknown NOTCH1 C532Y lies within the calcium-binding EGF-like domain 14 of the Notch1 protein (UniProt.org). C532Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C600S missense unknown NOTCH1 C600S lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). C600S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C664R missense unknown NOTCH1 C664R lies within the calcium-binding EGF-like domain 17 of the Notch1 protein (UniProt.org). C664R has been identified in sequencing studies (PMID: 24816253), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C682F missense unknown NOTCH1 C682F lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). C682F has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C68Y missense unknown NOTCH1 C68Y lies within the EGF-like domain 2 of the Notch1 protein (UniProt.org). C68Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C74F missense unknown NOTCH1 C74F lies within the EGF-like domain 2 of the Notch1 protein (UniProt.org). C74F has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C750S missense unknown NOTCH1 C750S lies within the calcium-binding EGF-like domain 19 of the Notch1 protein (UniProt.org). C750S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C815R missense unknown NOTCH1 C815R lies within the calcium-binding EGF-like domain 21 of the Notch1 protein (UniProt.org). C815R has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C833Y missense unknown NOTCH1 C833Y lies within the EGF-like domain 22 of the Notch1 protein (UniProt.org). C833Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C878Y missense unknown NOTCH1 C878Y lies within the calcium-binding EGF-like domain 23 of the Notch1 protein (UniProt.org). C878Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C893S missense unknown NOTCH1 C893S lies within the calcium-binding EGF-like domain 23 of the Notch1 protein (UniProt.org). C893S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
C969G missense unknown NOTCH1 C969G lies within the calcium-binding EGF-like domain 25 of the Notch1 protein (UniProt.org). C969G has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D1517N missense unknown NOTCH1 D1517N lies within LNR repeat 2 of the Notch1 protein (UniProt.org). D1517N has been identified in the scientific literature (PMID: 27228302, PMID: 22006338), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D1533A missense unknown NOTCH1 D1533A lies within LNR repeat 3 of the Notch1 protein (UniProt.org). D1533A has been associated with potential drug resistance (PMID: 29636358), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019). Y
D1538A missense unknown NOTCH1 D1538A lies within LNR repeat 3 of the Notch1 protein (UniProt.org). D1538A has been associated with potential drug resistance (PMID: 29636358), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019). Y
D1815fs frameshift loss of function - predicted NOTCH1 D1815fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 1815 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most of the cytoplasmic domain (UniProt.org), D1815fs is predicted to lead to a loss of Notch1 protein function.
D2020H missense unknown NOTCH1 D2020H lies within ANK repeat 3 of the Notch1 protein (UniProt.org). D2020H has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D469G missense loss of function - predicted NOTCH1 D469G lies within the calcium-binding, EGF-like domain 12 of the Notch1 protein (UniProt.org). D469G results in impaired ligand-dependent activation of Notch1 signaling in culture (PMID: 22006338) and therefore, is predicted to confer a loss of function to the Notch1 protein.
D469Y missense unknown NOTCH1 D469Y lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). D469Y has been identified in sequencing studies (PMID: 23685749, PMID: 29170450), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D568N missense unknown NOTCH1 D568N lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). D568N has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D571A missense unknown NOTCH1 D571A lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). D571A has been identified in sequencing studies (PMID: 25406187, PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D571Y missense unknown NOTCH1 D571Y lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). D571Y has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D573A missense unknown NOTCH1 D573A lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). D573A has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D573E missense unknown NOTCH1 D573E lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). D573E has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D573H missense unknown NOTCH1 D573H lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). D573H has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
D622N missense unknown NOTCH1 D622N lies within the calcium-binding EGF-like domain 16 of the Notch1 protein (UniProt.org). D622N has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
dec exp none no effect NOTCH1 dec exp indicates an decreased expression of the Notch1 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified.
E1567K missense no effect - predicted NOTCH1 E1567K lies within LNR repeat 3 of the Notch1 protein (Uniprot.org). E1567K demonstrates signaling activity similar to wild-type Notch1 in an in-vitro reporter assay (PMID: 25104330) and therefore, is predicted to have no effect on Notch1 protein function.
E1583_Q1584insPVELMPPE insertion unknown NOTCH1 E1583_Q1584insPVELMPPE results in the insertion of eight amino acids in the HD-N domain of the Notch1 protein between amino acids 1583 and 1584 (PMID: 16738328). E1583_Q1584insPVELMPPE has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E1679* nonsense loss of function - predicted NOTCH1 E1679* results in a premature truncation of the Notch1 protein at amino acid 1679 of 2555 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), E1679* is predicted to lead to a loss of Notch1 protein function.
E294V missense unknown NOTCH1 E294V lies within the extracellular domain of the Notch1 protein (UniProt.org). E294V has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E424K missense unknown NOTCH1 E424K lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). E424K has been identified in the scientific literature (PMID: 25406187, PMID: 24277457), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E450K missense unknown NOTCH1 E450K lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). E450K has been identified in the scientific literature (PMID: 24292195, PMID: 25303977, PMID: 25633867), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E694* nonsense loss of function - predicted NOTCH1 E694* results in a premature truncation of the Notch1 protein at amino acid 694 of 2555 (UniProt.org). Due to the loss of multiple domains and regions (UniProt.org), E694* is predicted to lead to a loss of Notch1 protein function.
E694G missense unknown NOTCH1 E694G lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). E694G has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E694K missense unknown NOTCH1 E694K lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). E694K has been identified in sequencing studies (PMID: 18593716), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E694Q missense unknown NOTCH1 E694Q lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). E694Q has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E756K missense unknown NOTCH1 E756K lies within the EGF-like domain 20 of the Notch1 protein (UniProt.org). E756K has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E848K missense unknown NOTCH1 E848K lies within the EGF-like domain 22 of the Notch1 protein (UniProt.org). E848K has been identified in sequencing studies (PMID: 24277457), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
E943K missense unknown NOTCH1 E943K lies within the EGF-like domain 24 of the Notch1 protein (UniProt.org). E943K has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
F1592S missense gain of function NOTCH1 F1592S lies within the HD-N domain of the Notch1 protein (PMID: 16738328). F1592S (reported as F1592S) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
F1748S missense unknown NOTCH1 F1748S lies within the PSEN1-interacting region in the helical domain of the Notch1 protein (UniProt.org). F1748S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
F357del deletion unknown NOTCH1 F357del results in the deletion of an amino acid in the calcium-binding EGF-like domain 9 of the Notch1 protein at amino acid 357 (UniProt.org). F357del has been identified in sequencing studies (PMID: 21798893, PMID: 28472509), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
F357S missense unknown NOTCH1 F357S lies within the calcium-binding EGF-like domain 9 of the Notch1 protein (UniProt.org). F357S has been identified in sequencing studies (PMID: 27035284, PMID: 24662767), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
F783S missense unknown NOTCH1 F783S lies within the EGF-like domain 20 of the Notch1 protein (UniProt.org). F783S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G1088S missense unknown NOTCH1 G1088S lies within EGF-like domain 28 of the Notch1 protein (UniProt.org). G1088S has been identified in sequencing studies (PMID: 23407552), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G115fs frameshift loss of function - predicted NOTCH1 G115fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 115 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), G115fs is predicted to lead to a loss of Notch1 protein function.
G1195R missense unknown NOTCH1 G1195R lies within the calcium-binding EGF-like domain 31 of the Notch1 protein (UniProt.org). G1195R has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G1215C missense unknown NOTCH1 G1215C lies within the calcium-binding EGF-like domain 31 of the Notch1 protein (UniProt.org). G1215C has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G1258C missense unknown NOTCH1 G1258C lies within the calcium-binding EGF-like domain 32 of the Notch1 protein (UniProt.org). G1258C has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G1376S missense unknown NOTCH1 G1376S lies within the EGF-like domain 35 of the Notch1 protein (UniProt.org). G1376S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G1659D missense unknown NOTCH1 G1659D lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). G1659D has been identified in sequencing studies (PMID: 19340001, PMID: 22225590), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G192* nonsense loss of function - predicted NOTCH1 G192* results in a premature truncation of the Notch1 protein at amino acid 192 of 2555 (UniProt.org). Due to the loss multiple domains and regions (UniProt.org), G192* is predicted to lead to a loss of Notch1 function.
G193A missense unknown NOTCH1 G193A lies within the calcium-binding EGF-like domain 5 of the Notch1 protein (UniProt.org). G193A has been identified in sequencing studies (PMID: 25275298), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G1995D missense unknown NOTCH1 G1995D lies within ANK repeat 3 of the Notch1 protein (UniProt.org). G1995D has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G21V missense unknown NOTCH1 G21V lies within the EGF-like domain 1 of the Notch1 protein (UniProt.org). G21V has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G310R missense unknown NOTCH1 G310R lies within the calcium-binding EGF-like domain 8 of the Notch1 protein (UniProt.org). G310R has been identified in the scientific literature (PMID: 21798897, PMID: 26873401, PMID: 28938622), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G326V missense unknown NOTCH1 G326V lies within the calcium-binding EGF-like domain 8 of the Notch1 protein (UniProt.org). G326V has been identified in sequencing studies (PMID: 30202019), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
G434C missense unknown NOTCH1 G434C lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). G434C has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G481C missense unknown NOTCH1 G481C lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). G481C has been identified in the scientific literature (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
G481R missense unknown NOTCH1 G481R lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). G481R has been identified in sequencing studies (PMID: 29970484), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
G481S missense unknown NOTCH1 G481S lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). G481S has predicted to result in decreased flexibility of Notch1 by structural modeling (PMID: 25234595), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
G481V missense unknown NOTCH1 G481V lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). G481V has been identified in sequencing studies (PMID: 25406187, PMID: 25839328), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
G484V missense unknown NOTCH1 G484V lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). G484V has been identified in sequencing studies (PMID: 23619168, PMID: 21798897), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
G578_S579insG insertion unknown NOTCH1 G578_S579insG results in the insertion of a glycine (G) in the calcium-binding EGF-like domain 15 of the Notch1 protein between amino acids 578 and 579 (UniProt.org). G578_S579insG has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G583R missense unknown NOTCH1 G583R lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). G583R has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G653C missense unknown NOTCH1 G653C lies within the calcium-binding EGF-like domain 17 of the Notch1 protein (UniProt.org). G653C has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G661S missense loss of function NOTCH1 G661S lies within the calcium-binding EGF-like domain 17 of the Notch1 protein (UniProt.org). G661S confers a loss of function to the Notch1 protein resulting in impaired ligand dependent Notch1 activation and reduced Notch1 signaling pathway activation (PMID: 20951801).
G672W missense unknown NOTCH1 G672W lies within the calcium-binding EGF-like domain 17 of the Notch1 protein (UniProt.org). G672W has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G690V missense unknown NOTCH1 G690V lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). G690V has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G691_T692delinsA indel unknown NOTCH1 G691_T692delinsA results in deletion of a glycine (G) and threonine (T) from aa 691 to aa 692 within the calcium-binding EGF-like domain 18 of the Notch1 protein, combined with the insertion of an alanine (A) at the same location (UniProt.org). G691_T692delinsA has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G696S missense unknown NOTCH1 G696S lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). G696S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G812W missense unknown NOTCH1 G812W lies within the calcium-binding EGF-like domain 21 of the Notch1 protein (UniProt.org). G812W has been identified in sequencing studies (PMID: 21798897, PMID: 26873401), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G842W missense unknown NOTCH1 G842W lies within the EGF-like domain 22 of the Notch1 protein (UniProt.org). G842W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G919W missense unknown NOTCH1 G919W lies within the EGF-like domain 24 of the Notch1 protein (UniProt.org). G919W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G936C missense unknown NOTCH1 G936C lies within the EGF-like domain 24 of the Notch1 protein (UniProt.org). G936C has been identified in sequencing studies (PMID: 26061751), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G957W missense unknown NOTCH1 G957W lies within the calcium-binding EGF-like domain 25 of the Notch1 protein (UniProt.org). G957W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G95W missense unknown NOTCH1 G95W lies within the EGF-like domain 2 of the Notch1 protein (UniProt.org). G95W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G977E missense unknown NOTCH1 G977E lies within the calcium-binding EGF-like domain 25 of the Notch1 protein (UniProt.org). G977E has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
G977W missense unknown NOTCH1 G977W lies within the calcium-binding EGF-like domain 25 of the Notch1 protein (UniProt.org). G977W has been identified in sequencing studies (PMID: 27105513), but has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
H165D missense unknown NOTCH1 H165D lies within the EGF-like domain 4 of the Notch1 protein (UniProt.org). H165D has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
H165L missense unknown NOTCH1 H165L lies within the EGF-like domain 4 of the Notch1 protein (UniProt.org). H165L has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
H2018fs frameshift unknown NOTCH1 H2018fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2018 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). H2018fs has been identified in the scientific literature (PMID: 30770351), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Dec 2019).
H2428fs frameshift gain of function - predicted NOTCH1 H2428fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2428 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). H2428fs is predicted to confer a gain of function to the Notch1 protein, as demonstrated by stabilization of the NOTCH intracellular domain and activation of the NOTCH pathway (PMID: 17646409).
H562fs frameshift loss of function - predicted NOTCH1 H562fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 562 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), H562fs is predicted to lead to a loss of Notch1 protein function.
H576R missense unknown NOTCH1 H576R lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). H576R has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
H688D missense unknown NOTCH1 H688D lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). H688D has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
H688L missense unknown NOTCH1 H688L lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). H688L has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
I1616N missense gain of function NOTCH1 I1616N lies within the HD-N domain of the Notch1 protein (PMID: 16738328). I1616N (reported as I1617N) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
I1616T missense gain of function NOTCH1 I1616T lies within the HD-N domain of the Notch1 protein (PMID: 16738328). I1616T (reported as I1617T) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
I163L missense unknown NOTCH1 I163L lies within the EGF-like domain 4 of the Notch1 protein (UniProt.org). I163L has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
I163S missense unknown NOTCH1 I163S lies within the EGF-like domain 4 of the Notch1 protein (UniProt.org). I163S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
I1680N missense gain of function NOTCH1 I1680N lies within the HD-C domain of the Notch1 protein (PMID: 16738328). I1680N (reported as I1681N) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
I1680S missense gain of function - predicted NOTCH1 I1680S lies within the HD-C domain of the Notch1 protein (PMID: 16738328). I1680S is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
I1718T missense gain of function NOTCH1 I1718T lies within the HD-C domain of the Notch1 protein (PMID: 16738328). I1718T (reported as I1719T) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
I697L missense unknown NOTCH1 I697L lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). I697L has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
inact mut unknown loss of function NOTCH1 inact mut indicates that this variant results in a loss of function of the Notch1 protein.
K581Q missense unknown NOTCH1 K581Q lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). K581Q has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
L1574P missense gain of function NOTCH1 L1574P lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). L1574P (also referred to as L1575P) results in activation of Notch1 signaling as indicated by increased transcription in cell culture and activation in Notch reporter assays (PMID: 16738328, PMID: 16614245, PMID: 15472075, PMID: 20393564).
L1585P missense unknown NOTCH1 L1585P lies within the HD-N domain of the Notch1 protein (PMID: 16738328). L1585P has been identified in the scientific literature (PMID: 31467126), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Mar 2020).
L1593P missense gain of function NOTCH1 L1593P lies within the HD-N domain of the Notch1 protein (PMID: 16738328). L1593P (reported as L1594P) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
L1596H missense gain of function NOTCH1 L1596H lies within the HD-N domain of the Notch1 protein (PMID: 16738328). L1597H (reported as L1596H) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
L1600P missense gain of function NOTCH1 L1600P lies within the HD-N domain of the Notch1 protein (PMID: 16738328). L1600P (also reported as L1601P) results in increased cleavage of Notch1 protein and activation of Notch1 signaling in cell culture (PMID: 18411416, PMID: 15472075, PMID: 16738328).
L1600Q missense unknown NOTCH1 L1600Q lies within the HD-N domain of the Notch1 protein (PMID: 16738328). L1600Q results in increased Notch1 signaling in a reporter assay in one study (PMID: 28820917), but does not result in statistically significant increase of Notch1 signaling in another study (PMID: 27870570), and therefore, its effect on Notch1 protein function is unknown.
L1678P missense gain of function NOTCH1 L1678P lies within the HD-C domain of the Notch1 protein (PMID: 16738328). L1678P (reported as L1679P) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and decreased heterodimer stability, which may activate Notch1 (PMID: 16738328).
L1980P missense unknown NOTCH1 L1980P lies within ANK repeat 2 of the Notch1 protein (UniProt.org). L1980P has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
L2139F missense unknown NOTCH1 L2139F lies within the cytoplasmic domain of the Notch1 protein (UniProt.org). L2139F has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
L2457V missense unknown NOTCH1 L2457V lies within the PEST domain of the Notch1 protein (PMID: 27773930). L2457V has been identified in sequencing studies (PMID: 19258443, PMID: 24345752, PMID: 18322257), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
mutant unknown unknown NOTCH1 mutant indicates an unspecified mutation in the NOTCH1 gene.
N459S missense unknown NOTCH1 N459S lies within the calcium-binding EGF-like domain 12 of the Notch1 protein (UniProt.org). N459S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
N689H missense unknown NOTCH1 N689H lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). N689H has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
over exp none no effect NOTCH1 over exp indicates an over expression of the Notch1 protein. However, the mechanism causing the over expression is unspecified.
P1377S missense unknown NOTCH1 P1377S lies within the EGF-like domain 35 of the Notch1 protein (UniProt.org). P1377S has been identified in sequencing studies (PMID: 25589003), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P1386T missense unknown NOTCH1 P1386T lies within the extracellular domain of the Notch1 protein (UniProt.org). P1386T has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P1442fs frameshift loss of function - predicted NOTCH1 P1442fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 1442 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), P1442fs is predicted to lead to a loss of Notch1 protein function.
P1770S missense unknown NOTCH1 P1770S lies within the RAM domain of the Notch1 protein (PMID: 22006338). P1770S results in a loss of Notch1 signaling in the context of a truncated form of Notch1 protein in culture (PMID: 22006338), but has not been characterized individually and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
P2415del deletion unknown NOTCH1 P2415del results in the deletion of an amino acid in the cytoplasmic domain of the Notch1 protein at amino acid 2415 (UniProt.org). P2415del has been identified in sequencing studies (PMID: 25589003, PMID: 25344691, PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P2438fs frameshift unknown NOTCH1 P2438fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2438 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2438fs is associated with increased copy number of the NOTCH1 gene in patient tumor samples (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
P2462fs frameshift gain of function - predicted NOTCH1 P2462fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2462 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2462fs has not been characterized, however, due to the effects of other PEST domain deletions downstream of P2462 (PMID: 16614245, PMID: 16738328), P2462fs is predicted to lead to activation of Notch1 signaling and is associated with increased copy number of the NOTCH1 gene in patient tumor samples (PMID: 25564152).
P2475fs frameshift gain of function - predicted NOTCH1 P2475fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2475 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2475fs is predicted to confer a gain of function to the Notch1 protein, as demonstrated by stabilization of the Notch intracellular domain and activation of the Notch pathway (PMID: 17646409).
P2493fs frameshift unknown NOTCH1 P2493fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2493 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2493fs (reported as P2493fs*100) in combination with L1574P demonstrated constitutive Notch signaling in culture (PMID: 17646409), however, P2493fs has not been characterized individually and therefore its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
P2514* nonsense unknown NOTCH1 P2514* results in a premature truncation of the Notch1 protein at aa 2514 of 2555 (UniProt.org). P2514* expressed with L1600P demonstrates constitutive Notch signaling in culture (PMID: 17646409), but has not been characterized individually and therefore, its effect on Notch1 protein function unknown (PubMed, Nov 2019).
P2514fs frameshift unknown NOTCH1 P2514fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2514 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). P2514fs expressed with L1600P demonstrates constitutive Notch signaling in culture (PMID: 17646409), but has not been characterized individually and therefore, its effect on Notch1 protein function unknown (PubMed, Nov 2019).
P391S missense unknown NOTCH1 P391S lies within the EGF-like domain 10 of the Notch1 protein (UniProt.org). P391S has been identified in sequencing studies (PMID: 21798897, PMID: 25633867), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P422S missense unknown NOTCH1 P422S lies within the calcium-binding EGF-like domain 11 of the Notch1 protein (UniProt.org). P422S has been predicted to disrupt ligand binding to Notch1 (PMID: 27228302), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P572R missense unknown NOTCH1 P572R lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). P572R has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P572T missense unknown NOTCH1 P572T lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). P572T has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
P915L missense unknown NOTCH1 P915L lies within the EGF-like domain 24 of the Notch1 protein (UniProt.org). P915L has been identified in sequencing studies (PMID: 24755471, PMID: 25344691), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
positive unknown unknown NOTCH1 positive indicates the presence of the NOTCH1 gene, mRNA, and/or protein.
Q1019* nonsense loss of function - predicted NOTCH1 Q1019* results in a premature truncation of the Notch1 protein at amino acid 1019 of 2555 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), Q1019* is predicted to lead to a loss of Notch1 protein function.
Q1076H missense unknown NOTCH1 Q1076H lies within the EGF-like domain 28 of the Notch1 protein (UniProt.org). Q1076H has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Q1134R missense unknown NOTCH1 Q1134R lies within the EGF-like domain 29 of the Notch1 protein (UniProt.org). Q1134R has been identified in the scientific literature (PMID: 24277457), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Q1584Lfs*21 frameshift loss of function - predicted NOTCH1 Q1584Lfs*21 indicates a shift in the reading frame starting at amino acid 1584 and terminating 21 residues downstream causing a premature truncation of the 2555 amino acid Notch1 protein (UniProt.org). Due to the loss of the transactivation domain (PMID: 15897231), Q1584Lfs*21 is predicted to result in a loss of Notch1 protein function.
Q1694* nonsense loss of function - predicted NOTCH1 Q1694* results in a premature truncation of the Notch1 protein at amino acid 1694 of 2555 (UniProt.org). Due to the loss of the cytoplasmic domain (UniProt.org), Q1694* is predicted to lead to a loss of Notch1 protein function.
Q1957* nonsense unknown NOTCH1 Q1957* results in a premature truncation of the Notch1 protein at amino acid 1957 of 2555 (UniProt.org). Q1957* has been identified in the scientific literature (PMID: 30770351), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Dec 2019).
Q2440* nonsense gain of function - predicted NOTCH1 Q2440* results in a premature truncation of the Notch1 protein at amino acid 2440 of 2555 (UniProt.org). Q2440* has not been characterized, however, due to the effects of other PEST domain deletions downstream of Q2440 (PMID: 16614245, PMID: 15472075), Q2440* is predicted to lead to activation of Notch1 signaling.
Q2459* nonsense gain of function - predicted NOTCH1 Q2459* results in a premature truncation of the Notch1 protein at amino acid 2459 of 2555 (UniProt.org). Q2459* has not been characterized, however, due to the effects of other PEST domain deletions downstream of Q2459 (PMID: 16614245, PMID: 15472075), Q2459* is predicted to lead to activation of Notch1 signaling.
Q2487L missense unknown NOTCH1 Q2487L lies within the PEST domain of the Notch1 protein (PMID: 27773930). Q2487L has been identified in the scientific literature (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein is unknown (PubMed, Feb 2020).
Q2503* nonsense unknown NOTCH1 Q2503* results in a premature truncation of the Notch1 protein at amino acid 2503 of 2555 (UniProt.org). Q2503* has been identified in the scientific literature (PMID: 23295735), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
Q290E missense unknown NOTCH1 Q290E lies within the calcium-binding EGF-like domain 7 of the Notch1 protein (UniProt.org). Q290E has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Q439* nonsense loss of function - predicted NOTCH1 Q439* results in a premature truncation of the Notch1 protein at amino acid 439 of 2555 (UniProt.org). Due to the loss multiple domains and regions (UniProt.org), Q439* is predicted to lead to a loss of Notch1 function.
Q442* nonsense loss of function - predicted NOTCH1 Q442* results in a premature truncation of the Notch1 protein at amino acid 442 of 2555 (UniProt.org). Due to the loss of multiple domains and regions (UniProt.org), Q442* is predicted to lead to a loss of Notch1 function.
Q619L missense unknown NOTCH1 Q619L lies within the calcium-binding EGF-like domain 16 of the Notch1 protein (UniProt.org). Q619L has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R1279H missense no effect - predicted NOTCH1 R1279H lies within the EGF-like domain 33 of the Notch1 protein (UniProt.org). R1279H demonstrates signaling activity similar to wild-type Notch1 protein in cell culture (PMID: 18593716) and therefore, is predicted to have no effect on Notch1 protein function.
R1594Q missense loss of function - predicted NOTCH1 R1594Q lies within the HD-N domain of the Notch1 protein (PMID: 16738328). R1594Q is predicted to confer a loss of function to the Notch1 protein, as demonstrated by impaired ligand-dependent activation of Notch1 in culture (PMID: 22006338).
R1598P missense gain of function NOTCH1 R1598P (also referred to as R1599P) lies within the HD-N domain of the Notch1 protein (PMID: 16738328). R1598P (reported as R1599P) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
R1608H missense unknown NOTCH1 R1608H lies within the HD-N domain of the Notch1 protein (PMID: 16738328). R1608H has been identified in sequencing studies (PMID: 22210878), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R1608S missense no effect - predicted NOTCH1 R1608S lies within the HD-N domain of the Notch1 protein (PMID: 16738328). R1608S (reported as R1609S) demonstrates activity similar to wild-type Notch1 in a luciferase reporter assay in culture (PMID: 16738328) and therefore, is predicted to have no effect on the Notch1 protein,
R1608T missense unknown NOTCH1 R1608T lies within the HD-N domain of the Notch1 protein (PMID: 16738328). R1608T has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R1608V missense unknown NOTCH1 R1608V lies within the HD-N domain of the Notch1 protein (PMID: 16738328). R1608V has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R1627L missense gain of function - predicted NOTCH1 R1627L lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). R1627L is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
R1633C missense unknown NOTCH1 R1633C lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). R1633C has been identified in sequencing studies (PMID: 22225590), but has not been biochemically characterized and, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R1662W missense unknown NOTCH1 R1662W lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). R1662W has been identified in sequencing studies (PMID: 22225590, PMID: 25406187), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R1683W missense gain of function - predicted NOTCH1 R1683W lies within the HD-C domain of the Notch1 protein (PMID: 16738328). R1683W is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
R1784W missense unknown NOTCH1 R1784W lies within the cytoplasmic domain of the Notch1 protein (UniProt.org). R1784W has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R353C missense unknown NOTCH1 R353C lies within the calcium-binding EGF-like domain 9 of the Notch1 protein (UniProt.org). R353C has been identified in sequencing studies (PMID: 22006338, PMID: 26491213), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R353H missense unknown NOTCH1 R353H lies within the calcium-binding EGF-like domain 9 of the Notch1 protein (UniProt.org). R353H has been identified in sequencing studies (PMID: 21798897, PMID: 25633867), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R365C missense unknown NOTCH1 R365C lies within the calcium-binding EGF-like domain 9 of the Notch1 protein (UniProt.org). R365C has been identified in sequencing studies (PMID: 25633867, PMID: 21798897, PMID: 22941188), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
R365H missense unknown NOTCH1 R365H lies within the calcium-binding EGF-like domain 9 of the Notch1 protein (UniProt.org). R365H is not associated with increased nuclear NICD expression in patient-derived xenograft models (PMID: 25104330), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
rearrange unknown unknown NOTCH1 rearrange indicates an unspecified rearrangement of the NOTCH1 gene.
S1004L missense unknown NOTCH1 S1004L lies within the EGF-like domain 26 of the Notch1 protein (UniProt.org). S1004L has been identified in the scientific literature (PMID: 27870570), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Mar 2020).
S137L missense unknown NOTCH1 S137L lies within the EGF-like domain 3 of the Notch1 protein (UniProt.org). S137L has been identified in sequencing studies (PMID: 22006338), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S1970P missense unknown NOTCH1 S1970P lies within ANK repeat 2 of the Notch1 protein (UniProt.org). S1970P has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S2329fs frameshift unknown NOTCH1 S2329fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2329 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). S2329fs has been identified in sequencing studies (PMID: 27683183), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S2449fs frameshift gain of function - predicted NOTCH1 S2449fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2449 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). S2449fs has not been characterized, however, due to the effects of other PEST domain deletion downstream of S2449 (PMID: 15472075), S2449fs is predicted to lead to activation of Notch1 signaling.
S2450N missense unknown NOTCH1 S2450N lies within the PEST domain of the Notch1 protein (PMID: 27773930). S2450N has been identified in sequencing studies (PMID: 24755471), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S2467* nonsense gain of function - predicted NOTCH1 S2467* results in a premature truncation of the Notch1 protein at amino acid 2467 of 2555 (UniProt.org). S2467* has not been characterized, however, due to the effects of other PEST domain deletion downstream of S2467 (PMID: 16614245, PMID: 15472075), S2467* is predicted to lead to activation of Notch1 signaling.
S2467fs frameshift unknown NOTCH1 S2467fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2467 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). S2467fs does not result in statistically significant increase of Notch1 signaling in a reporter assay (PMID: 27870570), but has not been fully characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Mar 2020).
S2492* nonsense unknown NOTCH1 S2492* results in a premature truncation of the Notch1 protein at amino acid 2492 of 2555 (UniProt.org). S2492* has been identified in sequencing studies (PMID: 23263491, PMID: 28157215), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Nov 2019).
S2499_F2554del deletion unknown NOTCH1 S2499_F2554del results in the deletion of 56 amino acids in the cytoplasmic domain of the Notch1 protein from amino acids 2499 to 2554 (UniProt.org). S2499_F2554del has been identified in the scientific literature (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S2523L missense unknown NOTCH1 S2523L lies within the cytoplasmic domain of the Notch1 protein (Uniprot.org). S2523L has been identified in the scientific literature (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S579T missense unknown NOTCH1 S579T lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). S579T has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
S94C missense unknown NOTCH1 S94C lies within the EGF-like domain 2 of the Notch1 protein (UniProt.org). S94C has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T1138P missense unknown NOTCH1 T1138P lies within the EGF-like domain 29 of the Notch1 protein (UniProt.org). T1138P has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T174N missense unknown NOTCH1 T174N lies within the EGF-like domain 4 of the Notch1 protein (UniProt.org). T174N has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T194P missense unknown NOTCH1 T194P lies within the calcium-binding EGF-like domain 5 of the Notch1 protein (UniProt.org). T194P has been identified in the scientific literature (PMID: 28352668), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T293S missense unknown NOTCH1 T293S lies within the calcium-binding EGF-like domain 7 of the Notch1 protein (UniProt.org). T293S has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T311P missense unknown NOTCH1 T311P lies within the calcium-binding EGF-like domain 8 of the Notch1 protein (UniProt.org). T311P has been identified in sequencing studies (PMID: 25275298, PMID: 26648538), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T561fs frameshift loss of function - predicted NOTCH1 T561fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 561 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of the intracellular domain (UniProt.org), T561fs is predicted to lead to a loss of Notch1 protein function.
T588P missense unknown NOTCH1 T588P lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). T588P has been identified in sequencing studies (PMID: 25275298, PMID: 25653542), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T712P missense unknown NOTCH1 T712P lies within the calcium-binding EGF-like domain 18 of the Notch1 protein (UniProt.org). T712P has been identified in sequencing studies (PMID: 23700467), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T767I missense unknown NOTCH1 T767I lies within the EGF-like domain 20 of the Notch1 protein (UniProt.org). T767I has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
T887I missense unknown NOTCH1 T887I lies within the calcium-binding EGF-like domain 23 of the Notch1 protein (UniProt.org). T887I has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1110_S1723del deletion unknown NOTCH1 V1110_S1723del results in the deletion of 614 amino acids in the extracellular domain of the Notch1 protein from amino acids 1110 to 1723 (UniProt.org). V1110_S1723del has been identified in the scientific literature (PMID: 25564152), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1324M missense unknown NOTCH1 V1324M lies within the EGF-like domain 34 of the Notch1 protein (UniProt.org). V1324M has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1575A missense gain of function - predicted NOTCH1 V1575A lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). V1575A is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
V1576E missense gain of function NOTCH1 V1576E lies within the HD-N domain of the Notch1 protein (PMID: 16738328). V1576E (reported as V1577E) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and altered heterodimer stability (PMID: 16738328).
V1578del deletion unknown NOTCH1 V1578del results in the deletion of one amino acid in the HD-N domain of the Notch1 protein at amino acid 1578 (PMID: 16738328). V1578del has been identified in sequencing studies (PMID: 26355908), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1599M missense gain of function - predicted NOTCH1 V1599M lies within the HD-N domain of the Notch1 protein (PMID: 16738328). V1599M is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
V1605del deletion unknown NOTCH1 V1605del results in the deletion of one amino acid in the HD-N domain of the Notch1 protein at amino acid 1605 (PMID: 16738328). V1605del has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1605E missense unknown NOTCH1 V1605E lies within the HD-N domain of the Notch1 protein (PMID: 16738328). V1605E has been identified in sequencing studies (PMID: 16673019), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1671I missense unknown NOTCH1 V1671I lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). V1671I has been identified in the scientific literature (PMID: 25376516), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V1676D missense gain of function NOTCH1 V1676D lies within the HD-C domain of the Notch1 protein (PMID: 16738328). V1676D (reported as V1677D) results in activation of Notch1 signaling, including ligand-independent activation as indicated in a reporter assay, increased S2 and S3 proteolytic cleavage of Notch1, and decreased heterodimer stability, which may activate Notch1 (PMID: 16738328).
V1676I missense gain of function - predicted NOTCH1 V1676I lies within the HD-C domain of the Notch1 protein (PMID: 16738328). V1676I is predicted to confer a gain of function to the Notch1 protein, as demonstrated by increased Notch1 signaling in an in-vitro reporter assay (PMID: 25104330).
V1721G missense unknown NOTCH1 V1721G lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). V1721G has been identified in the scientific literature (PMID: 27870570), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Mar 2020).
V1721M missense unknown NOTCH1 V1721M lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). V1721M has been identified in sequencing studies (PMID: 24127483, PMID: 23603912), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V2110M missense unknown NOTCH1 V2110M lies within ANK repeat 6 of the Notch1 protein (UniProt.org). V2110M has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
V2249* nonsense unknown NOTCH1 V2249* results in a premature truncation of the Notch1 protein at amino acid 2249 of 2555 (UniProt.org). V2249* has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Oct 2019).
V2285I missense unknown NOTCH1 V2285I lies within the cytoplasmic domain of the Notch1 protein (UniProt.org). V2285I has been identified in sequencing studies (PMID: 25589003, PMID: 22547598, PMID: 24277457), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V2443fs frameshift unknown NOTCH1 V2443fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 2443 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). V2443fs has not been characterized individually, however, cells harboring both V2443fs (reported as V2443fs*34) and L1593P demonstrated constitutive Notch signaling in culture (PMID: 17646409) and therefore, the effect of V2443fs on Notch1 protein function is unknown.
V2536I missense unknown NOTCH1 V2536I lies within the cytoplasmic domain of the Notch1 protein (UniProt.org). V2536I has been identified in sequencing studies (PMID: 19631984, PMID: 27127180), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V296M missense unknown NOTCH1 V296M lies within the calcium-binding EGF-like domain 8 of the Notch1 protein (UniProt.org). V296M has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V489fs frameshift loss of function - predicted NOTCH1 V489fs results in a change in the amino acid sequence of the Notch1 protein beginning at aa 1442 of 2555, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of most known functional domains (UniProt.org), V489fs is predicted to lead to a loss of Notch1 protein function.
V565A missense unknown NOTCH1 V565A lies within the extracellular domain of the Notch1 protein (UniProt.org). V565A has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
V565M missense unknown NOTCH1 V565M lies within the extracellular domain of the Notch1 protein (UniProt.org). V565M has not been characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
W861C missense unknown NOTCH1 W861C lies within the EGF-like domain 22 of the Notch1 protein (UniProt.org). W861C has been identified in sequencing studies (PMID: 22722201), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
wild-type none no effect Wild-type NOTCH1 indicates that no mutation has been detected within the NOTCH1 gene.
Y1619P missense unknown NOTCH1 Y1619P lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). Y1619P has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Y1620G missense unknown NOTCH1 Y1620G lies within the negative regulatory region of the Notch1 protein (PMID: 23072667). Y1620G has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Y1716C missense unknown NOTCH1 Y1716C lies within the HD-C domain of the Notch1 protein (PMID: 16738328). Y1716C has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Y291D missense unknown NOTCH1 Y291D lies within the calcium-binding EGF-like domain 7 of the Notch1 protein (UniProt.org). Y291D has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Y550N missense unknown NOTCH1 Y550N lies within the calcium-binding EGF-like domain 14 of the Notch1 protein (UniProt.org). Y550N has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Y577H missense unknown NOTCH1 Y577H lies within the calcium-binding EGF-like domain 15 of the Notch1 protein (UniProt.org). Y577H has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).
Y625D missense unknown NOTCH1 Y625D lies within the calcium-binding EGF-like domain 16 of the Notch1 protein (UniProt.org). Y625D has not been characterized in the scientific literature and therefore, its effect on Notch1 protein function is unknown (PubMed, Feb 2020).