Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol RB1
Synonyms OSRC | p105-Rb | p110-RB1 | pp110 | PPP1R130 | pRb | RB
Gene Description RB1, retinoblastoma-associated protein, is a key negative regulator of the G1 to S transition during cell division (PMID: 15084261) and also plays a role in cell differentiation, survival, senescence, epigenetic regulation, and genome stability (PMID: 21295686, PMID: 23359405, PMID: 22293180). Inactivation of Rb1 and loss of Rb1 tumor suppressor function has been identified in many early stage cancers (PMID: 26160835).
ACMG Incidental List v2.0:
Yes, Retinoblastoma (PMID: 27854360)

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
A10fs frameshift loss of function - predicted RB1 A10fs results in a change in the amino acid sequence of the Rb1 protein beginning at 10 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A10fs is predicted to lead to a loss of Rb1 protein function.
A11fs frameshift loss of function - predicted RB1 A11fs results in a change in the amino acid sequence of the Rb1 protein beginning at 11 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), A11fs is predicted to lead to a loss of Rb1 protein function.
A488V missense unknown RB1 A488V lies within domain A of the Rb1 protein (UniProt.org). A488V has been identified in sequencing studies (PMID: 27203738), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2019).
A496V missense unknown RB1 A496V lies within domain A of the Rb1 protein (UniProt.org). A496V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2019).
A525G missense unknown RB1 A525G lies within domain A of the Rb1 protein (UniProt.org). A525G has been identified in the scientific literature (PMID: 23532519), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
C553* nonsense loss of function - predicted RB1 C553* results in a premature truncation of the Rb1 protein within domain A at amino acid 553 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), C553* is predicted to lead to a loss of Rb1 protein function.
C706F missense loss of function - predicted RB1 C706F lies within domain B of the Rb1 protein (UniProt.org). C706F is predicted to confer a loss of function to the Rb1 protein as demonstrated by loss of Rb1 phosphorylation (PMID: 2168563).
C712R missense loss of function RB1 C712R lies within domain B of the Rb1 protein (UniProt.org). C712R results in a loss of Rb1 protein function as demonstrated by reduced Rb1 phosphorylation and inability to bind E2f1 in in vitro assays, and reduced interaction with large T antigen in an yeast assay (PMID: 10486322).
D718N missense unknown RB1 D718N lies within domain B of the Rb1 protein (UniProt.org). D718N has been identified in the scientific literature (PMID: 12402348), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
dec exp none no effect RB1 dec exp indicates decreased expression of the Rb1 protein and/or mRNA. However, the mechanism causing the decrease is unspecified.
del deletion loss of function RB1 del indicates a deletion of the RB1 gene.
E137* nonsense loss of function - predicted RB1 E137* results in a premature truncation of the Rb1 protein at amino acid 137 of 928. Due to the loss of all known functional domains (UniProt.org), E137* is predicted to lead to a loss of Rb1 protein function.
E268* nonsense loss of function - predicted RB1 E268* results in a premature truncation of the Rb1 protein within domain A at amino acid 268 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E268* is predicted to lead to a loss of Rb1 protein function.
E280* nonsense loss of function - predicted RB1 E280* results in a premature truncation of the Rb1 protein at amino acid 280 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E280* is predicted to lead to a loss of Rb1 protein function.
E30* nonsense loss of function - predicted RB1 E30* results in a premature truncation of the Rb1 protein at amino acid 30 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E30* is predicted to lead to a loss of Rb1 protein function.
E413* nonsense loss of function - predicted RB1 E413* results in a premature truncation of the Rb1 protein at amino acid 413 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E413* is predicted to lead to a loss of Rb1 protein function.
E440K missense unknown RB1 E440K lies within domain A of the Rb1 protein (UniProt.org). E440K has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
E48* nonsense loss of function - predicted RB1 E48* results in a premature truncation of the Rb1 protein at amino acid 48 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), E48* is predicted to lead to a loss of Rb1 protein function.
E545* nonsense loss of function - predicted RB1 E545* results in a premature truncation of the Rb1 protein at amino acid 545 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), E545* is predicted to lead to a loss of Rb1 protein function.
E554* nonsense loss of function - predicted RB1 E554* results in a premature truncation of the Rb1 protein within domain A at amino acid 554 of 928 (UniProt.org). Due to the loss of four major functional domains (UniProt.org), E554* is predicted to lead to a loss of Rb1 protein function.
E748* nonsense loss of function - predicted RB1 E748* results in a premature truncation of the Rb1 protein at amino acid 748 of 928 (UniProt.org). Due to the loss of domain C (UniProt.org), E748* is predicted to lead to a loss of Rb1 protein function.
E843* nonsense loss of function - predicted RB1 E843* results in a premature truncation of the Rb1 protein at amino acid 843 of 928 (UniProt.org). E843* has not been biochemically characterized, however, due to the disruption of Domain C (PMID: 16360038), E843* is predicted to lead to a loss of Rb1 protein function.
F755I missense unknown RB1 F755I lies within domain B of the Rb1 protein (UniProt.org). F755I has been identified in the scientific literature (PMID: 22084214), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
G435* nonsense loss of function - predicted RB1 G435* results in a premature truncation of the Rb1 protein within domain A at amino acid 435 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), G435* is predicted to lead to a loss of Rb1 protein function.
G449E missense unknown RB1 G449E lies within domain A of the Rb1 protein (UniProt.org). G449E has been identified in the scientific literature (PMID: 23532519, PMID: 15605413), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
G449R missense unknown RB1 G449R lies within domain A of the Rb1 protein (UniProt.org). G449R has been identified in sequencing studies (PMID: 26373574, PMID: 30578357), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
H483R missense unknown RB1 H483R lies within domain A of the Rb1 protein (UniProt.org). H483R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
H483Y missense unknown RB1 H483Y lies within domain A of the Rb1 protein (UniProt.org). H483Y has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
I101fs frameshift loss of function - predicted RB1 I101fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 101 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), I101fs is predicted to lead to a loss Rb1 protein function.
I348V missense unknown RB1 I348V does not lie within any known functional domains of the Rb1 protein (UniProt.org). I348V has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
I388S missense unknown RB1 I388S lies within domain A of the Rb1 protein (UniProt.org). I388S has been identified in sequencing studies (PMID: 19593635), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
I724N missense unknown RB1 I724N lies within domain B of the Rb1 protein (UniProt.org). I724N has been identified in sequencing studies (PMID: 24121792), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
I752S missense unknown RB1 I752S lies within domain B of the Rb1 protein (UniProt.org). I752S has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
I782M missense unknown RB1 I782M lies within domain C of the Rb1 protein (UniProt.org). I782M has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
inact mut unknown loss of function RB1 inact mut indicates that this variant results in a loss of function of the Rb1 protein. However, the specific amino acid change has not been identified.
K240Sfs*22 frameshift loss of function - predicted RB1 K240Sfs*22 indicates a shift in the reading frame starting at amino acid 240 and terminating 22 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K240Sfs*22 is predicted to lead to a loss of Rb1 function.
K319Nfs*13 frameshift loss of function - predicted RB1 K319Nfs*13 indicates a shift in the reading frame starting at amino acid 319 and terminating 13 residues downstream causing a premature truncation of the 928 amino acid Rb1 protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), K319Nfs*13 is predicted to lead to a loss of Rb1 function.
K715E missense unknown RB1 K715E lies within domain B of the Rb1 protein (UniProt.org). K715E has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
K740* nonsense loss of function - predicted RB1 K740* results in a premature truncation of the Rb1 protein at amino acid 740 of 928 (UniProt.org). K740* lies within the B domain of the Rb1 protein and is predicted to lead to a loss of function (PMID: 23895135).
K765* nonsense loss of function - predicted RB1 K765* results in a premature truncation of the Rb1 protein at amino acid 765 of 928 (UniProt.org). Due to the loss of Domain C (UniProt.org), K765* is predicted to lead to a loss of Rb1 protein function.
K844S missense unknown RB1 K844S lies within domain C of the Rb1 protein (UniProt.org). K844S has been identified in the scientific literature (PMID: 31045832), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Feb 2020).
K913R missense unknown RB1 K913R lies within domain C of the Rb1 protein (UniProt.org). K913R has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
K94N missense unknown RB1 K94N does not lie within any known functional domains of the Rb1 protein (UniProt.org). K94N has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
L199* nonsense loss of function - predicted RB1 L199* results in a premature truncation of the Rb1 protein at amino acid 199 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), L199* is predicted to lead to a loss of Rb1 protein function.
L523fs frameshift loss of function - predicted RB1 L523fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 523 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), L523fs is predicted to lead to a loss Rb1 protein function.
L550I missense unknown RB1 L550I lies within domain A of the Rb1 protein (UniProt.org). L550I has been identified in sequencing studies (PMID: 27294619, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
L607I missense loss of function - predicted RB1 L607I lies within the spacer region of the Rb1 protein (UniProt.org). L607I has not been biochemically characterized, but is predicted to confer a loss of function to the Rb1 protein as demonstrated by the inability to induce apoptosis in cultured cells (PMID: 20594292).
L657P missense unknown RB1 L657P lies within domain B of the Rb1 protein (UniProt.org). L657P has been identified in the scientific literature (PMID: 10882758), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
L662P missense unknown RB1 L662P lies within domain B of the Rb1 protein (UniProt.org). L662P has been identified in the scientific literature (PMID: 10671068), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
L688R missense unknown RB1 L688R lies within domain B of the Rb1 protein (UniProt.org). L688R has been identified in the scientific literature (PMID: 17960112), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
L797fs frameshift loss of function - predicted RB1 L797fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 797 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of domain C (UniProt.org), L797fs is predicted to lead to a loss of Rb1 protein function.
loss unknown loss of function RB1 loss indicates loss of the RB1 gene, mRNA, and protein.
M148T missense unknown RB1 M148T does not lie within any known functional domains of the Rb1 protein (UniProt.org). M148T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
M379L missense unknown RB1 M379L lies within domain A of the Rb1 protein (UniProt.org). M379L has been identified in sequencing studies (PMID: 27294619), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
M695V missense unknown RB1 M695V lies within domain B of the Rb1 protein (UniProt.org). M695V has been identified in sequencing studies (PMID: 22810696), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
mutant unknown unknown RB1 mutant indicates an unspecified mutation in the RB1 gene.
negative unknown loss of function RB1 negative indicates a lack of the RB1 gene, mRNA, and/or protein.
P374A missense unknown RB1 P374A lies within domain A of the Rb1 protein (UniProt.org). P374A has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
P515L missense unknown RB1 P515L lies within domain A of the Rb1 protein (UniProt.org). P515L has been identified in the scientific literature (PMID: 23243591), but has not been biochemically characterized and therefore its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
P515T missense unknown RB1 P515T lies within domain A of the Rb1 protein (UniProt.org). P515T has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
positive unknown unknown RB1 positive indicates the presence of the RB1 gene, mRNA, and/or protein.
Q121H missense unknown RB1 Q121H does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q121H has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
Q217* nonsense loss of function - predicted RB1 Q217* results in a premature truncation of the Rb1 protein at amino acid 217 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q217* is predicted to lead to a loss of Rb1 protein function.
Q257* nonsense loss of function - predicted RB1 Q257* results in a premature truncation of the Rb1 protein at amino acid 257 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q257* is predicted to lead to a loss of Pten protein function.
Q257R missense unknown RB1 Q257R does not lie within any known functional domains of the Rb1 protein (UniProt.org). Q257R has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
Q266* nonsense loss of function - predicted RB1 R266* results in a premature truncation of the Rb1 protein at amino acid 266 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R266* is predicted to lead to a loss of Rb1 protein function.
Q344* nonsense loss of function - predicted RB1 Q344* results in a premature truncation of the Rb1 protein at amino acid 344 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344* is predicted to lead to a loss of Rb1 protein function.
Q344fs frameshift loss of function - predicted RB1 Q344fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 344 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q344fs is predicted to lead to a loss of Rb1 protein function.
Q354* nonsense loss of function - predicted RB1 Q354* results in a premature truncation of the Rb1 protein at amino acid 354 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q354* is predicted to lead to a loss of Rb1 protein function.
Q444H missense unknown RB1 Q444H lies within domain A of the Rb1 protein (UniProt.org). Q444H has been identified in sequencing studies (PMID: 24791139), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
Q444L missense unknown RB1 Q444L lies within domain A of the Rb1 protein (UniProt.org). Q444L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
Q504* nonsense loss of function - predicted RB1 Q504* results in a premature truncation of the Rb1 protein at amino acid 504 of 928 and is a known break point for the formation of Pcm1/Jak2 fusion proteins (UniProt.org). Due to the loss of multiple functional domains, Q504* is predicted to lead to a loss of Rb1 protein function (PMID: 23895135, UniProt.org).
Q575* nonsense loss of function - predicted RB1 Q575* results in a premature truncation of the Rb1 protein within domain A at amino acid 575 of 928. Due to the loss of all known functional domains (UniProt.org), Q575* is predicted to lead to a loss of Rb1 protein function.
Q62* nonsense loss of function - predicted RB1 Q62* results in a premature truncation of the Rb1 protein at amino acid 62 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), Q62* is predicted to lead to a loss of Rb1 protein function.
Q639* nonsense loss of function - predicted RB1 Q639* results in a premature truncation of the Rb1 protein within the spacer domain at amino acid 639 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Q639* is predicted to lead to a loss of Rb1 protein function.
Q702K missense unknown RB1 Q702K lies within domain B of the Rb1 protein (UniProt.org). Q702K has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R251* nonsense loss of function - predicted RB1 R251* results in a premature truncation of the Rb1 protein at amino acid 251 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R251* is predicted to lead to a loss of Rb1 protein function.
R254K missense unknown RB1 R254K does not lie within any known functional domains of the Rb1 protein (UniProt.org). R254K has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R255* nonsense loss of function - predicted RB1 R255* results in a premature truncation of the Rb1 protein at amino acid 255 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R255* is predicted to lead to a loss of Rb1 protein function.
R255Q missense unknown RB1 R255Q does not lie within any known functional domains of the Rb1 protein (UniProt.org). R255Q has been identified in sequencing studies (PMID: 30610106), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R272* nonsense loss of function - predicted RB1 R272* results in a premature truncation of the Rb1 protein at amino acid 272 of 928 (UniProt.org). Due to the loss of all functional domains (UniProt.org), R272* is predicted to lead to a loss of Rb1 protein function.
R272I missense unknown RB1 R272I does not lie within any known functional domains of the Rb1 protein (UniProt.org). R272I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R320* nonsense loss of function - predicted RB1 R320* results in a premature truncation of the Rb1 protein at amino acid 320 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R320* is predicted to lead to a loss of Rb1 protein function.
R320L missense unknown RB1 R320L does not lie within any known functional domains of the Rb1 protein (UniProt.org). R320L has been identified in sequencing studies (PMID: 26343386, PMID: 28167203), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R358* nonsense loss of function - predicted RB1 R358* results in a premature truncation of the Rb1 protein at amino acid 358 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R358* is predicted to lead to a loss of Rb1 protein function.
R445* nonsense loss of function - predicted RB1 R445* results in a premature truncation of the Rb1 protein within domain A at amino acid 445 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R445* is predicted to lead to a loss of Rb1 protein function.
R451C missense unknown RB1 R451C lies within domain A of the Rb1 protein (UniProt.org). R451C has been identified in sequencing studies (PMID: 26373574, PMID: 25801821, PMID: 24376576), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R451H missense unknown RB1 R451H lies within domain A of the Rb1 protein (UniProt.org). R451H has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R455* nonsense loss of function - predicted RB1 R455* results in a premature truncation of the Rb1 protein within domain A at amino acid 455 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R455* is predicted to lead to a loss of Rb1 protein function.
R467* nonsense loss of function - predicted RB1 R467* results in a premature truncation of the Rb1 protein within domain A at amino acid 467 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R467* is predicted to lead to a loss of Rb1 protein function.
R552* nonsense loss of function - predicted RB1 R552* results in a premature truncation of the Rb1 protein within domain A at amino acid 552 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), R552* is predicted to lead to a loss of Rb1 protein function.
R552fs frameshift loss of function - predicted RB1 R552fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 552 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R552fs is predicted to lead to a loss Rb1 protein function.
R556* nonsense loss of function - predicted RB1 R556* results in a premature truncation of the Rb1 protein at amino acid 556 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R556* is predicted to lead to a loss of Rb1 protein function.
R579* nonsense loss of function - predicted RB1 R579* results in a premature truncation of the Rb1 protein within domain A at amino acid 579 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R579* is predicted to lead to a loss of Rb1 protein function.
R621C missense loss of function - predicted RB1 R621C lies within the spacer region of the Rb1 protein (UniProt.org). R621C has not been biochemically characterized, but is predicted to confer a loss of function to the Rb1 protein as demonstrated by the inability to induce apoptosis in cultured cells (PMID: 20594292).
R621P missense unknown RB1 R621P lies within the spacer region of the Rb1 protein (UniProt.org). R621P has been identified in sequencing studies (PMID: 21720365), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R621S missense unknown RB1 R621S lies within the spacer region of the Rb1 protein (UniProt.org). R621S has been identified in the scientific literature (PMID: 24791139), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R661W missense no effect - predicted RB1 R661W lies within the B domain of the Rb1 protein (UniProt.org). R661W is unable to bind E2F, however tumor suppression function is similar to wild-type Rb1 (PMID: 15688068) and therefore, R661W is predicted to have no effect on Rb1 protein function.
R698I missense unknown RB1 R698I lies within domain B of the Rb1 protein (UniProt.org). R698I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R698W missense loss of function RB1 R698W lies within domain B of the Rb1 protein (UniProt.org). R698W confers a loss of function to the Rb1 protein as demonstrated by decreased apoptotic function, reduced protein stability, and some evidence for transformation ability (PMID: 20594292).
R787* nonsense loss of function - predicted RB1 R787* results in a premature truncation of the Rb1 protein within domain B at amino acid 787 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), R787* is predicted to lead to a loss of Rb1 protein function.
R787Q missense unknown RB1 R787Q lies within domain C of the Rb1 protein (UniProt.org). R787Q has been identified in the scientific literature (PMID: 15605413, PMID: 16269091), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R798Q missense unknown RB1 R798Q lies within domain C of the Rb1 protein (UniProt.org). R798Q has been identified in sequencing studies (PMID: 27149842), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R798W missense unknown RB1 R798W lies within domain C of the Rb1 protein (UniProt.org). R798W has been identified in the scientific literature (PMID: 9194486), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
R7fs frameshift loss of function - predicted RB1 R7fs results in a change in the amino acid sequence of the Rb1 protein beginning at 7 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domain (UniProt.org), R7fs is predicted to lead to a loss of Rb1 protein function.
R876C missense unknown RB1 R876C lies within domain C of the Rb1 protein (UniProt.org). R876C has been identified in sequencing studies (PMID: 19372580), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2019).
S127I missense unknown RB1 S127I does not lie within any known functional domains of the Rb1 protein (UniProt.org). S127I has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
S463fs frameshift loss of function - predicted RB1 S463fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 463 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known functional domains (UniProt.org), S463fs is predicted to lead to a loss of Rb1 protein function.
S567L missense unknown RB1 S567L lies within domain A of the Rb1 protein (UniProt.org). S567L has been identified in the scientific literature (PMID: 10671068, PMID: 28580595), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
S612C missense unknown RB1 S612C lies within the spacer region of the Rb1 protein (UniProt.org). S612C has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
S634* nonsense loss of function - predicted RB1 S634* results in a premature truncation of the Rb1 protein within the spacer domain at amino acid 634 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), S634* is predicted to lead to a loss of Rb1 protein function.
S751Y missense unknown RB1 S751Y lies within domain B of the Rb1 protein (UniProt.org). S751Y has not been characterized in the scientific literature and therefore, its effect on Rb1 protein function is unknown (PubMed, Oct 2019).
S758L missense unknown RB1 S758L lies within domain B of the Rb1 protein (UniProt.org). S758L has been identified in the scientific literature (PMID: 26324360), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
S816* nonsense loss of function - predicted RB1 S816* results in a premature truncation of the Rb1 protein at amino acid 816 of 928 (UniProt.org). Due to the loss of domain C and nuclear localization signal (UniProt.org), S816* is predicted to lead to a loss of Rb1 protein function.
T738_R775del deletion unknown RB1 T738_R775del results in the deletion of 38 amino acids in domain B of the Rb1 protein from amino acids 738 to 775 (UniProt.org). T738_R775del has been identified in the scientific literature (PMID: 29236940), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
V375F missense unknown RB1 V375F lies within domain A of the Rb1 protein (UniProt.org). V375F has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
V654fs frameshift loss of function - predicted RB1 V654fs results in a change in the amino acid sequence of the Rb1 protein beginning at aa 654 of 928, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), V654fs is predicted to lead to a loss Rb1 protein function.
V654L missense unknown RB1 V654L lies within domain B of the Rb1 protein (UniProt.org). V654L has been identified in sequencing studies (PMID: 21615945, PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
V654M missense unknown RB1 V654M lies within domain B of the Rb1 protein (UniProt.org). V654M has been identified in sequencing studies (PMID: 22622578, PMID: 27283993), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
W195* nonsense loss of function - predicted RB1 W195* results in a premature truncation of the Rb1 protein at amino acid 195 of 928 (UniProt.org). Due to the loss of all known functional domains (UniProt.org), W195* is predicted to lead to a loss of Rb1 protein function.
W563L missense unknown RB1 W563L lies within domain A of the Rb1 protein (UniProt.org). W563L has been identified in sequencing studies (PMID: 10882758), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
W681* nonsense loss of function - predicted RB1 W681* results in a premature truncation of the Rb1 protein at amino acid 681 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), W681* is predicted to lead to a loss of Rb1 protein function.
W99* nonsense loss of function - predicted RB1 W99* results in a premature truncation of the Rb1 protein at amino acid 99 of 928 (UniProt.org). Due to the loss of all functional domains (UniProt.org), W99* leads to loss of Rb1 protein function (PMID: 24406863).
wild-type none no effect Wild-type RB1 indicates that no mutations have been detected within the RB1 gene.
Y659F missense unknown RB1 Y659F lies within domain B of the Rb1 protein (UniProt.org). Y659F has not been characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
Y728* nonsense loss of function - predicted RB1 Y728* results in a premature truncation of the Rb1 protein within domain B at amino acid 728 of 928 (UniProt.org). Due to the loss of multiple functional domains (UniProt.org), Y728* is predicted to lead to a loss of Rb1 protein function.
Y728C missense unknown RB1 Y728C lies within domain B of the Rb1 protein (UniProt.org). Y728C has been identified in sequencing studies (PMID: 18772396), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).
Y756C missense unknown RB1 Y756C lies within domain B of the Rb1 protein (UniProt.org). Y756C has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Rb1 protein function is unknown (PubMed, Mar 2020).