MAP2K1 K59del
Gene Variant Detail

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Gene MAP2K1
Variant K59del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions MAP2K1 K59del results in the deletion of an amino acid in the protein kinase domain of the Map2k1 protein at amino acid 59 (UniProt.org). K59del results in autophosphorylation levels (PMID: 29753091), and proliferation in low serum conditions in a competition assay similar to wild-type Map2k1 (PMID: 36442478), but demonstrates increased Mek/Erk activation in other studies (PMID: 22389471, PMID: 40274952), increased proliferation in a competition assay in normal serum conditions, increased transformation activity (PMID: 36442478), increased basal cell metabolism, and is associated with decreased sensitivity to some Mek and Raf inhibitors in culture (PMID: 40274952), and therefore, is predicted to lead to a gain of Map2k1 protein function.
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 inact mut MAP2K1 K59del

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Transcript NM_002755.4
gDNA chr15:g.66435121_66435123delAAG
cDNA c.175_177delAAG
Protein p.K59delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022413.1 chr15:g.66485000_66485002delTCC c.176_178delTCC p.L59delL RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_017022412 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
NM_002755 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_011521783 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022413 chr15:g.66485000_66485002delTCC c.176_178delTCC p.L59delL RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
XM_017022411 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66435190_66435192delGTG c.178_180delGTG p.V60delV RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66435121_66435123delAAG c.175_177delAAG p.K59delK RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 K59del Advanced Solid Tumor sensitive Trametinib Preclinical - Cell culture Actionable In a preclinical study, Mekinist (trametinib) inhibited viability of a transformed cell line expressing MAP2K1 K59del in culture (PMID: 36442478). 36442478