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Gene | MAP2K1 |
Variant | R49L |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | MAP2K1 R49L lies within the negative regulatory region of the Map2k1 protein (PMID: 24241536). R49L confers a gain of function to the Map2k1 protein as demonstrated by transforming ability in culture and in vivo, and phosphorylation of Erk1/2 (PMID: 22327936). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 act mut MAP2K1 R49L |
Transcript | NM_002755.4 |
gDNA | chr15:g.66435092G>T |
cDNA | c.146G>T |
Protein | p.R49L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002755 | chr15:g.66435092G>T | c.146G>T | p.R49L | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66435092G>T | c.146G>T | p.R49L | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66435092G>T | c.146G>T | p.R49L | RefSeq | GRCh38/hg38 |
XM_017022411 | chr15:g.66435092G>T | c.146G>T | p.R49L | RefSeq | GRCh38/hg38 |
XM_017022411.3 | chr15:g.66435092G>T | c.146G>T | p.R49L | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66435092G>T | c.146G>T | p.R49L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRAF V600E MAP2K1 R49L | melanoma | sensitive | Trametinib | Preclinical - Cell culture | Actionable | In a preclinical study, Mekinist (trametinib) inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 R49L in culture (PMID: 36442478). | 36442478 |
BRAF V600E MAP2K1 R49L | melanoma | sensitive | Cobimetinib + Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Zelboraf (vemurafenib) and Cotellic (cobimetinib) synergistically inhibited viability of a melanoma cell line harboring BRAF V600E and expressing MAP2K1 R49L in culture (PMID: 36442478). | 36442478 |