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Gene Symbol STK11
Synonyms hLKB1 | LKB1 | PJS
Gene Description STK11, serine/threonine kinase 11, is a tumor suppressor (PMID: 30562755) involved in cell metabolism, growth, polarity, and tumor suppression through the regulation of AMPK family members (PMID: 26398719). STK11 germline mutations are common in Peutz-Jeghers syndrome and somatic STK11 mutations have been identified in melanoma, lung, pancreatic, cervical, and endometrial cancers (PMID: 26877140, PMID: 29191602) and are often associated with resistance to immune checkpoint blockcade (PMID: 30626603).
ACMG Incidental List v3.0:
Yes, Peutz-Jeghers syndrome (PMID: 34012068)
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
6794 19 19p13.3 NM_000455 Tumor suppressor (PMID: 30606230)

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
A205Rfs*82 frameshift loss of function - predicted STK11 A205Rfs*82 indicates a shift in the reading frame starting at amino acid 205 and terminating 82 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). A205Rfs*82 has not been characterized however, due to the effects of other truncation mutations downstream of A205 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
A205T missense loss of function STK11 A205T lies within the protein kinase domain of the Stk11 protein (UniProt.org). A205T results in decreased Stk11 kinase activity and loss of growth inhibition in cell culture (PMID: 16407837).
A218Sfs*42 frameshift loss of function - predicted STK11 A218Sfs*42 indicates a shift in the reading frame starting at amino acid 218 and terminating 42 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). A218Sfs*42 has not been characterized however, due to the effects of other truncation mutations downstream of A218 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
A241P missense loss of function STK11 A241P lies within the protein kinase domain of the Stk11 protein (UniProt.org). A241P confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
A377P missense unknown STK11 A377P lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). A377P has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
A389T missense unknown STK11 A389T lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). A389T has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
A397S missense no effect - predicted STK11 A397S lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). A397S results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
A417S missense no effect - predicted STK11 A417S lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). A417S results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
amp none no effect STK11 amplification indicates an increased number of copies of the STK11 gene. However, the mechanism causing the increase is unspecified.
C132F missense unknown STK11 C132F lies within the protein kinase domain of the Stk11 protein (UniProt.org). C132F has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
C278fs frameshift loss of function - predicted STK11 C278fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 278 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). C278fs has not been characterized however, due to the effects of other truncation mutations downstream of C278 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
D176A missense unknown STK11 D176A lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176A has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Jan 2023).
D176H missense unknown STK11 D176H lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176H has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Jan 2023).
D176N missense loss of function STK11 D176N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176N results in failure to recruit Smarca2 (Brm) to DNA double strand breaks in cell culture (PMID: 23584481) and results in loss of kinase activity in an vitro assay (PMID: 9837816).
D176Y missense loss of function STK11 D176Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D176Y results in failure to activate the downstream kinase Ampk (PMID: 19892943) and failure to phosphorylate Strada in an vitro assay (PMID: 12805220).
D194E missense unknown STK11 D194E lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194E has been identified in the scientific literature (PMID: 21189378), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Feb 2023).
D194G missense unknown STK11 D194G lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194G has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D194H missense unknown STK11 D194H lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194H has been identified in the scientific literature (PMID: 21816872), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D194N missense unknown STK11 D194N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194N is predicted to result in a change of Stk11 binding energy based on computer modeling (PMID: 27081308), but has not been characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D194V missense unknown STK11 D194V lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194V has been identified in the scientific literature (PMID: 10079245), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D194Y missense loss of function STK11 D194Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D194Y results in decreased Stk11 kinase activity in in vitro assays (PMID: 32647375; PMID: 34849607), decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607), decreased protein stability, aberrant gene expression profile, increased cell motility, failure to inhibit proliferation, colony formation, and cell cycle progression in cultured cells, and promotes tumor growth in mouse models (PMID: 32647375).
D207Gfs*59 frameshift loss of function - predicted STK11 D207Gfs*59 indicates a shift in the reading frame starting at amino acid 207 and terminating 59 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). D207Gfs*59 has not been characterized however, due to the effects of other truncation mutations downstream of D207 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
D208N missense no effect - predicted STK11 D208N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D208N results in kinase activity comparable to wild-type Stk11 in an in vitro assay (PMID: 10676634), and therefore, is predicted to have no effect on Stk11 protein function.
D237N missense unknown STK11 D237N lies within the protein kinase domain of the Stk11 protein (UniProt.org). D237N has been identified in sequencing studies (PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D237Y missense unknown STK11 D237Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D237Y has been identified in the scientific literature (PMID: 32642098), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D277Y missense loss of function - predicted STK11 D277Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). D277Y results in failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
D30N missense loss of function STK11 D30N does not lie within any known functional domains of the Stk11 protein (UniProt.org). D30N confers a loss of function to the Stk11 protein, as demonstrated by increased phosphorylation and activation of mTOR targets, S6K1 and S6, and loss of the ability to suppress cell proliferation in culture (PMID: 29399144).
D343N missense unknown STK11 D343N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D343N has been identified in sequencing studies (PMID: 26354930, PMID: 29325035, PMID: 34746883), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Jan 2023).
D350E missense unknown STK11 D350E lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D350E has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D355N missense unknown STK11 D355N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D355N has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D358N missense unknown STK11 D358N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D358N has been identified in sequencing studies (PMID: 26319365), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D359Y missense unknown STK11 D359Y lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). D359Y has not been characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
D53Gfs*110 frameshift loss of function - predicted STK11 D53Gfs*110 indicates a shift in the reading frame starting at amino acid 53 and terminating 110 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). D53Gfs*110 has not been characterized however, due to the effects of other truncation mutations downstream of D53 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
D53Tfs*11 frameshift loss of function - predicted STK11 D53Tfs*11 indicates a shift in the reading frame starting at amino acid 53 and terminating 11 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). D53Tfs*11 has not been characterized however, due to the effects of other truncation mutations downstream of D53 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
dec exp none no effect STK11 dec exp indicates decreased expression of the Stk11 protein and/or mRNA. However, the mechanism causing the decreased expression is unspecified
del deletion loss of function STK11 del indicates a deletion of the STK11 gene.
E120* nonsense loss of function - predicted STK11 E120* results in a premature truncation of the Stk11 protein at amino acid 120 of 433 (UniProt.org). E120* has not been characterized however, due to the effects of other truncation mutations downstream of E120 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E121* nonsense loss of function - predicted STK11 E121* results in a premature truncation of the Stk11 protein at amino acid 121 of 433 (UniProt.org). E121* has not been characterized however, due to the effects of other truncation mutations downstream of E121 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E138* nonsense loss of function - predicted STK11 E138* results in a premature truncation of the Stk11 protein at amino acid 138 of 433 (UniProt.org). E138* has not been characterized however, due to the effects of other truncation mutations downstream of E138 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E165* nonsense loss of function - predicted STK11 E165* results in a premature truncation of the Stk11 protein at amino acid 165 of 433 (UniProt.org). E165* has not been characterized however, due to the effects of other truncation mutations downstream of E165 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E165K missense unknown STK11 E165K lies within the protein kinase domain of the Stk11 protein (UniProt.org). E165K has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
E165Q missense unknown STK11 E165Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). E165Q has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
E199* nonsense loss of function - predicted STK11 E199* results in a premature truncation of the Stk11 protein at amino acid 199 of 433 (UniProt.org). E199* has not been characterized however, due to the effects of other truncation mutations downstream of E199 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E199K missense unknown STK11 E199K lies within the protein kinase domain of the Stk11 protein (UniProt.org). E199K fails to activate the downstream kinase Ampk in cell culture (PMID: 19892943), but results in kinase activity comparable to wild-type Stk11 in an in vitro assay (PMID: 10676634), and therefore, its effect on Stk11 protein function is unknown.
E199Q missense no effect - predicted STK11 E199Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). E199Q demonstrates kinase activity similar to wild-type Stk11 in culture (PMID: 19892943), and therefore, is predicted to have no effect on Stk11 protein function.
E223* nonsense loss of function - predicted STK11 E223* results in a premature truncation of the Stk11 protein at amino acid 223 of 433 (UniProt.org). E223* has not been characterized however, due to the effects of other truncation mutations downstream of E223 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E223K missense unknown STK11 E223K lies within the protein kinase domain of the Stk11 protein (UniProt.org). E223K has been identified in sequencing studies (PMID: 31555481), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
E223V missense loss of function - predicted STK11 E223V lies within the protein kinase domain of the Stk11 protein (UniProt.org). E223V results in failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
E256* nonsense loss of function - predicted STK11 E256* results in a premature truncation of the Stk11 protein at amino acid 256 of 433 (UniProt.org). E256* has not been characterized however, due to the effects of other truncation mutations downstream of E256 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E317* nonsense unknown STK11 E317* results in a premature truncation of the Stk11 protein at amino acid 317 of 433 (UniProt.org). E317* has been identified in the scientific literature (PMID: 31658955), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
E317K missense unknown STK11 E317K lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). E317K has not been characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
E33* nonsense loss of function - predicted STK11 E33* results in a premature truncation of the Stk11 protein at amino acid 33 of 433 (UniProt.org). E33* has not been characterized however, due to the effects of other truncation mutations downstream of E33 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E357K missense unknown STK11 E357K lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). E357K has been identified in sequencing studies (PMID: 28642281), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
E57fs frameshift loss of function - predicted STK11 E57fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 57 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). E57fs has not been characterized however, due to the effects of other truncation mutations downstream of E57 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E57Sfs*107 frameshift loss of function - predicted STK11 E57Sfs*107 indicates a shift in the reading frame starting at amino acid 57 and terminating 107 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). E57Sfs*107 has not been characterized however, due to the effects of other truncation mutations downstream of E57 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E65* nonsense loss of function - predicted STK11 E65* results in a premature truncation of the Stk11 protein at amino acid 65 of 433 (UniProt.org). E65* results in decreased Tp53 activity in culture (PMID: 30092773), and therefore, is predicted to lead to a loss of Stk11 protein function.
E70* nonsense loss of function - predicted STK11 E70* results in a premature truncation of the Stk11 protein at amino acid 70 of 433 (UniProt.org). E70* has not been characterized however, due to the effects of other truncation mutations downstream of E70 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
E98_G155del deletion loss of function STK11 E98_G155del results in the deletion of 58 amino acids in the protein kinase domain of the Stk11 protein from amino acids 98 to 155 (UniProt.org). E98_G155del confers a loss of function to the Stk11 protein, as demonstrated by the loss of autophosphorylation, lack of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571).
F148S missense loss of function STK11 F148S lies within the protein kinase domain of the Stk11 protein (UniProt.org). F148S confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
F157S missense loss of function - predicted STK11 F157S lies within the protein kinase domain of the Stk11 protein (UniProt.org). F157S results in failure to activate the downstream kinase Ampk (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
F298L missense unknown STK11 F298L lies within the protein kinase domain of the Stk11 protein (UniProt.org). F298L has been identified in the scientific literature (PMID: 27615706), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
F309* nonsense loss of function STK11 F309* results in a premature truncation of the Stk11 protein at amino acid 309 of 433 (UniProt.org). F309* results in loss of Stk11 kinase activity and reduced phosphorylation of Ampk and its downstream effectors in in vitro assays (PMID: 23612973).
F354L missense loss of function - predicted STK11 F354L lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). F354L results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and does not disrupt Stk11 autophosphorylation or growth suppression by Stk11, but results in decreased AMPK phosphorylation and increased mTOR signaling, and alters cell polarization in culture (PMID: 15800014), and therefore, is predicted to lead to a loss of Stk11 protein function.
G135R missense loss of function STK11 G135R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G135R results in decreased Stk11 kinase activity in an in vitro assay, defective mitochondria function, aberrant gene expression profile, failure to inhibit proliferation, colony formation, and cell cycle progression in cultured cells, and promotes tumor growth in mouse models (PMID: 32647375).
G155R missense no effect - predicted STK11 G155R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G155R results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
G163D missense loss of function STK11 G163D lies within the protein kinase domain of the Stk11 protein (UniProt.org). G163D results in failure to activate the downstream kinase Ampk (PMID: 19892943) and failure to suppress cell growth in culture (PMID: 10430928).
G163R missense loss of function STK11 G163R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G163R confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
G171S missense unknown STK11 G171S lies within the protein kinase domain of the Stk11 protein (UniProt.org). G171S fails to activate the downstream kinase Ampk in cell culture (PMID: 19892943), but results in kinase activity comparable to wild-type Stk11 in an in vitro assay (PMID: 10676634), and therefore, its effect on Stk11 protein function is unknown.
G196R missense unknown STK11 G196R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G196R has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G196V missense unknown STK11 G196V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G196V has been identified in the scientific literature (PMID: 29184675, PMID: 32205293), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G215D missense loss of function - predicted STK11 G215D lies within the protein kinase domain of the Stk11 protein (UniProt.org). G215D results in a loss of kinase activity in an in vitro assay (PMID: 10676634), and therefore, is predicted to lead to a loss of Stk11 protein function.
G242R missense unknown STK11 G242R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G242R has been identified in sequencing studies (PMID: 17676035), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G242V missense loss of function STK11 G242V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G242V confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
G242W missense unknown STK11 G242W lies within the protein kinase domain of the Stk11 protein (UniProt.org). G242W has been identified in the scientific literature (PMID: 11389158), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G251C missense loss of function STK11 G251C lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251C confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
G251F missense unknown STK11 G251F lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251F has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G251R missense unknown STK11 G251R lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251R has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G251V missense unknown STK11 G251V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G251V has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G288S missense no effect - predicted STK11 G288S lies within the protein kinase domain of the Stk11 protein (UniProt.org). G288S results in Tp53 activation to similar levels of wild-type Stk11 in culture (PMID: 30092773), and therefore, is predicted to have no effect on Stk11 protein function.
G56Tfs*4 frameshift loss of function - predicted STK11 G56Tfs*4 indicates a shift in the reading frame starting at amino acid 56 and terminating 4 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). G56Tfs*4 has not been characterized however, due to the effects of other truncation mutations downstream of G56 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
G56V missense unknown STK11 G56V lies within the protein kinase domain of the Stk11 protein (UniProt.org). G56V has been identified in sequencing studies (PMID: 27478040), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
G56W missense loss of function STK11 G56W lies within the protein kinase domain of the Stk11 protein (UniProt.org). G56W confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
G61Afs*3 frameshift loss of function - predicted STK11 G61Afs*3 indicates a shift in the reading frame starting at amino acid 61 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). G61Afs*3 has not been characterized however, due to the effects of other truncation mutations downstream of G61 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
H107L missense unknown STK11 H107L lies within the protein kinase domain of the Stk11 protein (UniProt.org). H107L has been identified in sequencing studies (PMID: 28884744), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
H168R missense unknown STK11 H168R lies within the protein kinase domain of the Stk11 protein (UniProt.org). H168R has been identified in sequencing studies (PMID: 25567908), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
H174D missense unknown STK11 H174D lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
H174L missense unknown STK11 H174L lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174L has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
H174R missense loss of function STK11 H174R lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174R results in failure to activate the downstream kinase Ampk (PMID: 19892943, PMID: 25960268) and loss of inhibitory control leading to increased colony formation in cell culture (PMID: 25960268).
H174Y missense unknown STK11 H174Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). H174Y has been identified in sequencing studies (PMID: 24292813), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
H202R missense loss of function - predicted STK11 H202R lies within the protein kinase domain of the Stk11 protein (UniProt.org). H202R demonstrates autophosphorylation similar to wild-type Stk11 in an in vitro assay, but results in decreased Stk11-dependent Tp53-mediated transcriptional activation in a reporter assay (PMID: 34849607), and therefore, is predicted to lead to a loss of Stk11 protein function.
I111N missense unknown STK11 I111N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I111N has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
I177N missense loss of function STK11 I177N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I177N confers a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943), lack of autophosphorylation, loss of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571).
I177T missense unknown STK11 I177T lies within the protein kinase domain of the Stk11 protein (UniProt.org). I177T has been identified in the scientific literature (PMID: 24816253, PMID: 35211616), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
I248T missense unknown STK11 I248T lies within the protein kinase domain of the Stk11 protein (UniProt.org). I248T has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
I303N missense unknown STK11 I303N lies within the protein kinase domain of the Stk11 protein (UniProt.org). I303N has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
I303S missense unknown STK11 I303S lies within the protein kinase domain of the Stk11 protein (UniProt.org). I303S has been identified in sequencing studies (PMID: 24185509), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
I35Lfs*127 frameshift loss of function - predicted STK11 I35Lfs*127 indicates a shift in the reading frame starting at amino acid 35 and terminating 127 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). I35Lfs*127 has not been characterized however, due to the effects of other truncation mutations downstream of I35 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
inact mut unknown loss of function STK11 inact mut indicates that this variant results in a loss of function of the Stk11 protein. However, the specific amino acid change has not been identified.
K175_D176del deletion loss of function STK11 K175_D176del results in the deletion of two amino acids in the protein kinase domain of the Stk11 protein from amino acids 175 to 176 (UniProt.org). K175_D176del confers a loss of function to the Stk11 protein, as demonstrated by the loss of autophosphorylation and the inability to suppress growth of cells in culture (PMID: 12552571).
K262Sfs*25 frameshift loss of function - predicted STK11 K262Sfs*25 indicates a shift in the reading frame starting at amino acid 262 and terminating 257 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K262Sfs*25 has not been characterized however, due to the effects of other truncation mutations downstream of K262 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K311N missense no effect - predicted STK11 K311N lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). K311N results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
K311Nfs*41 frameshift unknown STK11 K311Nfs*41 indicates a shift in the reading frame starting at amino acid 311 and terminating 41 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K311Nfs*41 has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Mar 2023).
K41* nonsense loss of function - predicted STK11 K41* results in a premature truncation of the Stk11 protein at amino acid 41 of 433 (UniProt.org). K41* has not been characterized however, due to the effects of other truncation mutations downstream of K41 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K44* nonsense loss of function - predicted STK11 K44* results in a premature truncation of the Stk11 protein at amino acid 44 of 433 (UniProt.org). K44* has not been characterized however, due to the effects of other truncation mutations downstream of K44 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K48fs frameshift loss of function - predicted STK11 K48fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 48 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). K48fs has not been characterized however, due to the effects of other truncation mutations downstream of K48 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K62* nonsense loss of function - predicted STK11 K62* results in a premature truncation of the Stk11 protein at amino acid 62 of 433 (UniProt.org). K62* has not been characterized however, due to the effects of other truncation mutations downstream of K62 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K62Sfs*100 frameshift loss of function - predicted STK11 K62Sfs*100 indicates a shift in the reading frame starting at amino acid 62 and terminating 100 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K62Sfs*100 has not been characterized however, due to the effects of other truncation mutations downstream of K62 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K64Vfs*90 frameshift loss of function - predicted STK11 K64Vfs*90 indicates a shift in the reading frame starting at amino acid 64 and terminating 90 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). K64Vfs*90 has not been characterized however, due to the effects of other truncation mutations downstream of K64 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K78A missense loss of function STK11 K78A lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78A results in loss of kinase activity (PMID: 15800014), loss of Ampk activation, loss of apicobasal cell polarization and increased colony formation and anchorage-independent growth in culture (PMID: 24998845).
K78E missense unknown STK11 K78E lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78E has been identified in sequencing studies (PMID: 23630207, PMID: 25234657), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
K78fs frameshift loss of function - predicted STK11 K78fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 78 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). K78fs has not been characterized however, due to the effects of other truncation mutations downstream of K78 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
K78I missense loss of function STK11 K78I lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78I confers a loss of function to the Stk11 protein, as demonstrated by loss of kinase activity in cell culture (PMID: 15731909, PMID: 9837816), and an in vitro assay (PMID: 34849607), and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607), and is considered a kinase-dead mutation (PMID: 26864623).
K78N missense unknown STK11 K78N lies within the protein kinase domain of the Stk11 protein (UniProt.org). K78N has been identified in sequencing studies (PMID: 27767028, PMID: 29409051), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
K84* nonsense loss of function - predicted STK11 K84* results in a premature truncation of the Stk11 protein at amino acid 84 of 433 (UniProt.org). K84* results in decreased Tp53 activity in culture (PMID: 30092773), and therefore, is predicted to lead to a loss of Stk11 protein function.
K84del deletion no effect - predicted STK11 K84del results in the deletion of an amino acid in the protein kinase domain of the Stk11 protein at amino acid 84 (UniProt.org). K84del results in Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type Stk11 in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
L160P missense unknown STK11 L160P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L160P is predicted to affect the enzyme function of Stk11 based on structural modeling (PMID: 27081308), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
L182P missense loss of function - predicted STK11 L182P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L182P is predicted to lead to a loss of catalytic activity based on structural modeling (PMID: 29447078), and demonstrates reduced association with the Strad-Mo25 complex (PMID: 26212320), and therefore, is predicted to lead to a loss of Stk11 protein function.
L183V missense unknown STK11 L183V lies within the protein kinase domain of the Stk11 protein (UniProt.org). L183V has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
L195M missense unknown STK11 L195M lies within the protein kinase domain of the Stk11 protein (UniProt.org). L195M has been identified in sequencing studies (PMID: 33272240), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
L245F missense unknown STK11 L245F lies within the protein kinase domain of the Stk11 protein (UniProt.org). L245F has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
L245R missense loss of function - predicted STK11 L245R lies within the protein kinase domain of the Stk11 protein (UniProt.org). L245R is predicted to confer a loss of function to the Stk11 protein, as demonstrated by its inability to activate the downstream kinase, Ampk (PMID: 19892943).
L263fs frameshift loss of function STK11 L263fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 263 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). L263fs confers a loss of function to the Stk11 protein, as demonstrated by the loss of autophosphorylation, lack of cytoplasmic localization, and the inability to suppress growth of cells in culture (PMID: 12552571).
L282Afs*3 frameshift loss of function - predicted STK11 L282Afs*3 indicates a shift in the reading frame starting at amino acid 282 and terminating 3 residues downstream causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). L282Afs*3 has not been characterized however, due to the effects of other truncation mutations downstream of L282 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
L285Lfs*2 frameshift loss of function - predicted STK11 L285Lfs*2 indicates a shift in the reading frame starting at amino acid 285 and terminating 2 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). L285Lfs*2 results in decreased Tp53 activity in culture (PMID: 30092773), and therefore, is predicted to lead to a loss of Stk11 protein function.
L285Q missense loss of function - predicted STK11 L285Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). L285Q results in failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
L290P missense loss of function STK11 L290P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L290P confers a loss of function to the Stk11 protein, as demonstrated by increased phosphorylation and activation of mTOR targets, S6K1 and S6, and loss of the ability to suppress cell proliferation in culture (PMID: 29399144).
L45fs frameshift loss of function - predicted STK11 L45fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 45 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). L45fs has not been characterized however, due to the effects of other truncation mutations downstream of L45 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
L67P missense loss of function - predicted STK11 L67P lies within the protein kinase domain of the Stk11 protein (UniProt.org). L67P results in loss of kinase activity in cell culture (PMID: 9837816), and therefore, is predicted to lead to a loss of Stk11 protein function.
loss unknown loss of function STK11 loss indicates loss of the STK11 gene, mRNA, and protein.
M136R missense loss of function - predicted STK11 M136R lies within the protein kinase domain of the Stk11 protein (UniProt.org). M136R demonstrates a loss of autophosphorylation in cell culture (PMID: 14668798), and therefore, is predicted to result in a loss of Stk11 protein function.
mutant unknown unknown STK11 mutant indicates an unspecified mutation in the STK11 gene.
N181E missense loss of function STK11 N181E lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181E results in failure to activate the downstream kinase Ampk in an vitro assay (PMID: 19892943) and demonstrates reduced association with the Strad-Mo25 complex (PMID: 26212320).
N181I missense unknown STK11 N181I lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181I has been identified in the scientific literature (PMID: 30689838), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
N181S missense unknown STK11 N181S lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181S has been identified in the scientific literature (PMID: 31173881), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
N181T missense unknown STK11 N181T lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181T has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
N181Y missense unknown STK11 N181Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). N181Y has been identified in the scientific literature (PMID: 15121768, PMID: 35356154), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
N259K missense unknown STK11 N259K lies within the protein kinase domain of the Stk11 protein (UniProt.org). N259K has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Feb 2023).
negative unknown loss of function STK11 negative indicates a lack of the STK11 gene, mRNA, and/or protein
P179L missense unknown STK11 P179L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179L has been identified in the scientific literature (PMID: 28104619, PMID: 30851333, PMID: 24419424), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
P179Q missense unknown STK11 P179Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179Q has been identified in sequencing studies (PMID: 28481359), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
P179R missense loss of function STK11 P179R lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179R confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
P179S missense unknown STK11 P179S lies within the protein kinase domain of the Stk11 protein (UniProt.org). P179S has been identified in sequencing studies (PMID: 22722839), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
P221L missense unknown STK11 P221L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P221L has been identified in sequencing studies (PMID: 22980975, PMID: 29615459), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
P221R missense loss of function STK11 P221R lies within the protein kinase domain of the Stk11 protein (UniProt.org). P221R confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
P221S missense unknown STK11 P221S lies within the protein kinase domain of the Stk11 protein (UniProt.org). P221S has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
P275L missense no effect - predicted STK11 P275L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P275L results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
P280A missense no effect - predicted STK11 P280A lies within the protein kinase domain of the Stk11 protein (UniProt.org). P280A results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
P281fs frameshift loss of function - predicted STK11 P281fs likely results in a premature truncation of the Stk11 protein at amino acid 281 of 433 (UniProt.org). STK11 P281fs has not been characterized however, due to the effects of other truncation mutations downstream of P281 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
P281L missense loss of function - predicted STK11 P281L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P281L results in a loss of kinase activity in an in vitro assay (PMID: 10676634), and therefore, is predicted to lead to a loss of Stk11 protein function.
P281Pfs*4 frameshift loss of function - predicted STK11 P281Pfs*4 indicates a shift in the reading frame starting at amino acid 281 and terminating 4 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P281Pfs*4 results in decreased Tp53 activity in culture (PMID: 30092773), and therefore, is predicted to lead to a loss of Stk11 protein function.
P281Rfs*6 frameshift loss of function - predicted STK11 P281Rfs*6 indicates a shift in the reading frame starting at amino acid 281 and terminating 6 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P281Rfs*6 results in decreased Tp53 activity in culture (PMID: 30092773), and therefore, is predicted to lead to a loss of Stk11 protein function.
P294L missense unknown STK11 P294L lies within the protein kinase domain of the Stk11 protein (UniProt.org). P294L has been identified in sequencing studies (PMID: 28350084), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
P314H missense unknown STK11 P314H lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). P314H has been identified in sequencing studies (PMID: 9809980), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
P321Hfs*38 frameshift unknown STK11 P321Hfs*38 indicates a shift in the reading frame starting at amino acid 321 and terminating 38 residues downstream, causing a premature truncation of the 433 amino acid Stk11 protein (UniProt.org). P321Hfs*38 results in Tp53 activation levels similar to wild-type Stk11 protein in culture (PMID: 30092773), but has not been fully biochemically characterized and therefore, its effect on Stk11 protein function is unknown.
P369S missense unknown STK11 P369S lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). P369S has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
Q100* nonsense loss of function - predicted STK11 Q100* results in a premature truncation of the Stk11 protein at amino acid 100 of 430 (UniProt.org). Q100* has not been characterized however, due to the effects of other truncation mutations downstream of Q100 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q112E missense no effect - predicted STK11 Q112E lies within the protein kinase domain of the Stk11 protein (UniProt.org). Q112E results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
Q123* nonsense loss of function - predicted STK11 Q123* results in a premature truncation of the Stk11 protein at amino acid 123 of 433 (UniProt.org). Q123* has not been characterized however, due to the effects of other truncation mutations downstream of Q123 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q123R missense no effect STK11 Q123R lies within the protein kinase domain of the Stk11 protein (UniProt.org). Q123R demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
Q137* nonsense loss of function - predicted STK11 Q137* results in a premature truncation of the Stk11 protein at amino acid 137 of 433 (UniProt.org). Q137* has not been characterized however, due to the effects of other truncation mutations downstream of Q137 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q159* nonsense loss of function - predicted STK11 Q159* results in a premature truncation of the Stk11 protein at amino acid 159 of 433 (UniProt.org). Q159* has not been characterized however, due to the effects of other truncation mutations downstream of Q159 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q170* nonsense loss of function - predicted STK11 Q170* results in a premature truncation of the Stk11 protein at amino acid 170 of 433 (UniProt.org). Q170* has not been characterized however, due to the effects of other truncation mutations downstream of Q170 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q170P missense loss of function - predicted STK11 Q170P lies within the protein kinase domain of the Stk11 protein (UniProt.org). Q170P results in failure to activate the downstream kinase Ampk (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
Q214* nonsense loss of function - predicted STK11 Q214* results in a premature truncation of the Stk11 protein at amino acid 214 of 433 (UniProt.org). Q214* has not been characterized however, due to the effects of other truncation mutations downstream of Q214 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q220* nonsense loss of function - predicted STK11 Q220* results in a premature truncation of the Stk11 protein at amino acid 220 of 433 (UniProt.org). Q220* has not been characterized however, due to the effects of other truncation mutations downstream of Q220 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q220P missense unknown STK11 Q220P lies within the protein kinase domain of the Stk11 protein (UniProt.org). Q220P has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
Q302* nonsense loss of function - predicted STK11 Q302* results in a premature truncation of the Stk11 protein at amino acid 302 of 433 (UniProt.org). Q302* has not been characterized however, due to the effects of other truncation mutations downstream of Q302 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q364K missense unknown STK11 Q364K lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). Q364K has been identified in sequencing studies (PMID: 25855536), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
Q37* nonsense loss of function - predicted STK11 Q37* results in a premature truncation of the Stk11 protein at amino acid 37 of 433 (UniProt.org). Q37* has not been characterized however, due to the effects of other truncation mutations downstream of Q37 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Q37L missense unknown STK11 Q37L does not lie within any known functional domains of the Stk11 protein (UniProt.org). Q37L has been identified in sequencing studies (PMID: 18948947), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
R104G missense no effect - predicted STK11 R104G lies within the protein kinase domain of the Stk11 protein (UniProt.org). R104G results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
R211Q missense no effect - predicted STK11 R211Q lies within the protein kinase domain of the Stk11 protein (UniProt.org). R211Q results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
R297M missense loss of function STK11 R297M lies within the protein kinase domain of the Stk11 protein (UniProt.org). R297M confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
R297S missense loss of function STK11 R297S lies within the protein kinase domain of the Stk11 protein (UniProt.org). R297S confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
R304G missense unknown STK11 R304G lies within the protein kinase domain of the Stk11 protein (UniProt.org). R304G has been identified in sequencing studies (PMID: 21532627), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
R304P missense no effect - predicted STK11 R304P lies within the protein kinase domain of the Stk11 protein (UniProt.org). R304P results in Tp53 activation to similar levels as wild-type Stk11 in culture (PMID: 30092773), and therefore, is predicted to have no effect on Stk11 protein function.
R304W missense loss of function STK11 R304W lies within the protein kinase domain of the Stk11 protein (UniProt.org). R304W confers a loss of function to the Stk11 protein as demonstrated by loss of autophosphorylation, lack of cytoplasmic localization, and the inability to suppress growth in culture (PMID: 12552571).
R310P missense unknown STK11 R310P lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R310P has been identified in sequencing studies (PMID: 32205293), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
R333C missense unknown STK11 R333C lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R333C has been identified in sequencing studies (PMID: 27027238), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
R409W missense no effect - predicted STK11 R409W lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R409W results in Tp53 activation similar to wild-type Stk11 in culture (PMID: 30092773) and a reporter assay (PMID: 34849607), and kinase activity similar to wild-type in an in vitro assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
R426W missense unknown STK11 R426W lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). R426W has been identified in the scientific literature (PMID: 18594528), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
R86G missense no effect STK11 R86G lies within the protein kinase domain of the Stk11 protein (UniProt.org). R86G demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
R87K missense loss of function - predicted STK11 R87K lies within the protein kinase domain of the Stk11 protein (UniProt.org). R87K demonstrates kinase activity, subcellular localization, ability to inhibit proliferation, cell cycle progression, and colony formation similar to wild-type protein in cultured cells, inhibits tumor growth in mouse models, but results in decreased protein stability, aberrant gene expression profile, failure to inhibit Fak phosphorylation, and leads to increased cell motility in cultured cells (PMID: 32647375), and therefore, is predicted to lead to a loss of Stk11 protein function.
S193F missense unknown STK11 S193F lies within the protein kinase domain of the Stk11 protein (UniProt.org). S193F has been identified in sequencing studies (PMID: 26010451), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Nov 2022).
S193Y missense loss of function STK11 S193Y lies within the protein kinase domain of the Stk11 protein (UniProt.org). S193Y confers a loss of function to Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
S19P missense unknown STK11 S19P does not lie within any known functional domains of the Stk11 protein (UniProt.org). S19P has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
S19W missense no effect - predicted STK11 S19W does not lie within any known functional domains of the Stk11 protein (UniProt.org). S19W results in Tp53 activation to similar levels of wild-type Stk11 protein in culture (PMID: 30092773), and therefore, is predicted to have no effect on Stk11 protein function.
S216F missense loss of function STK11 S216F lies within the protein kinase domain of the Stk11 protein (UniProt.org). S216F confers a loss of function to Stk11 as demonstrated by failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), loss of kinase activity in an in vitro assay, and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
S232P missense no effect STK11 S232P lies within the protein kinase domain of the Stk11 protein (UniProt.org). S232P demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
S240* nonsense loss of function - predicted STK11 S240* results in a premature truncation of the Stk11 protein at amino acid 240 of 433 (UniProt.org). S240* has not been characterized however, due to the effects of other truncation mutations downstream of S240 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
S31F missense no effect - predicted STK11 S31F does not lie within any known functional domains of the Stk11 protein (UniProt.org). S31F results in kinase activity similar to wild-type Stk11 in an in vitro assay and Stk11-dependent Tp53-mediated transcriptional activity similar to wild-type in a reporter assay (PMID: 34849607), and therefore, is predicted to have no effect on Stk11 protein function.
S419F missense unknown STK11 S419F lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). S419F has been identified in sequencing studies (PMID: 27320919), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
T230P missense no effect STK11 T230P lies within the protein kinase domain of the Stk11 protein (UniProt.org). T230P demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
T250P missense loss of function - predicted STK11 T250P lies within the protein kinase domain of the Stk11 protein (UniProt.org). T250P results in failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
T367M missense no effect - predicted STK11 T367M lies within the C-terminal domain of the Stk11 protein (PMID: 23612973). T367M results in kinase activity comparable to wild-type Stk11 in an in vitro assay (PMID: 10676634), and therefore, is predicted to have no effect on Stk11 protein function.
V236A missense unknown STK11 V236A lies within the protein kinase domain of the Stk11 protein (UniProt.org). V236A has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
V320fs frameshift unknown STK11 V320fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 320 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). V320fs has been identified in sequencing studies (PMID: 28884744, PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
V66M missense no effect STK11 V66M lies within the protein kinase domain of the Stk11 protein (UniProt.org). V66M demonstrates complex formation and kinase activity similar to wild-type Stk11 in cell culture (PMID: 19892943).
W239* nonsense loss of function - predicted STK11 W239* results in a premature truncation of the Stk11 protein at amino acid 239 of 433 (UniProt.org). W239* has not been characterized however, due to the effects of other truncation mutations downstream of W239 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
W239C missense unknown STK11 W239C lies within the protein kinase domain of the Stk11 protein (UniProt.org). W239C has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
W239S missense unknown STK11 W239S lies within the protein kinase domain of the Stk11 protein (UniProt.org). W239S has not been characterized in the scientific literature and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
W308* nonsense loss of function - predicted STK11 W308* results in a premature truncation of the Stk11 protein at amino acid 308 of 433 (UniProt.org). W308* results in Tp53 activation to similar levels as wild-type Stk11 in cell culture (PMID: 30092773), however, due to the effects of other truncation mutations downstream of W308 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
W308C missense loss of function - predicted STK11 W308C lies within the protein kinase domain of the Stk11 protein (UniProt.org). W308C results in a loss of kinase activity in cultured cells (PMID: 9837816), and therefore, is predicted to lead to a loss of Stk11 protein function.
W308L missense unknown STK11 W308L lies within the protein kinase domain of the Stk11 protein (UniProt.org). W308L has been identified in the scientific literature (PMID: 21521776, PMID: 17711506), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
W308R missense loss of function STK11 W308R lies within the protein kinase domain of the Stk11 protein (UniProt.org). W308R confers a loss of function on Stk11 as demonstrated by loss of kinase activity in an in vitro assay and decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607).
W332* nonsense unknown STK11 W332* results in a premature truncation of the Stk11 protein at amino acid 332 of 433 (UniProt.org). W332* has been identified in sequencing studies (PMID: 17711506, PMID: 27923066, PMID: 28978051), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
wild-type none no effect Wild-type STK11 indicates that no mutation has been detected within the STK11 gene.
Y118* nonsense loss of function - predicted STK11 Y118* results in a premature truncation of the Stk11 protein at amino acid 118 of 433 (UniProt.org). Y118* results in decreased Tp53 activity in culture (PMID: 30092773), and therefore, is predicted to lead to a loss of Stk11 protein function.
Y246* nonsense loss of function - predicted STK11 Y246* results in a premature truncation of the Stk11 protein at amino acid 246 of 433 (UniProt.org). Y246* has not been characterized however, due to the effects of other truncation mutations downstream of Y246 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Y253* nonsense loss of function - predicted STK11 Y253* results in a premature truncation of the Stk11 protein at amino acid 253 of 433 (UniProt.org). Y253* results in reduced Stk11 protein expression in cultured cells (PMID: 32236518), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of Y253 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.
Y272H missense loss of function - predicted STK11 Y272H lies within the protein kinase domain of the Stk11 protein (UniProt.org). Y272H results in failure to activate the downstream kinase Ampk in an in vitro assay (PMID: 19892943), and therefore, is predicted to lead to a loss of Stk11 protein function.
Y36D missense unknown STK11 Y36D does not lie within any known functional domains of the Stk11 protein (UniProt.org). Y36D has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Stk11 protein function is unknown (PubMed, Oct 2022).
Y49D missense loss of function STK11 Y49D lies within the protein kinase domain of the Stk11 protein (UniProt.org). Y49D results in decreases Stk11 kinase activity in an in vitro assay, decreased protein stability and predominant nuclear localization, aberrant gene expression profile, failure to inhibit proliferation, colony formation, and cell cycle progression in cultured cells, and promotes tumor growth in mouse models (PMID: 32647375).
Y60* nonsense loss of function - predicted STK11 Y60* results in a premature truncation of the Stk11 protein at amino acid 60 of 433 (UniProt.org). Y60* results in decreased Tp53-mediated transcriptional activity in a reporter assay (PMID: 34849607), and therefore, is predicted to lead to a loss of Stk11 protein function.
Y60fs frameshift loss of function - predicted STK11 Y60fs results in a change in the amino acid sequence of the Stk11 protein beginning at aa 60 of 433, likely resulting in premature truncation of the functional protein (UniProt.org). Y60fs has not been characterized however, due to the effects of other truncation mutations downstream of Y60 (PMID: 23612973), is predicted to lead to a loss of Stk11 protein function.