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Gene | MAP2K1 |
Variant | I139N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | MAP2K1 I139N lies within the protein kinase domain of the Map2k1 protein (UniProt.org). I139N is predicted to have no effect on Map2k1 protein function as demonstrated by basal kinase activity similar to wild-type Map2k1 in an in vitro assay, and is associated with decreased sensitivity to Mek inhibition (PMID: 12370306). |
Associated Drug Resistance | |
Category Variants Paths |
MAP2K1 mutant MAP2K1 I139N |
Transcript | NM_002755.4 |
gDNA | chr15:g.66436870T>A |
cDNA | c.416T>A |
Protein | p.I139N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017022411.3 | chr15:g.66436870T>A | c.416T>A | p.I139N | RefSeq | GRCh38/hg38 |
NM_002755.3 | chr15:g.66436870T>A | c.416T>A | p.I139N | RefSeq | GRCh38/hg38 |
NM_002755.4 | chr15:g.66436870T>A | c.416T>A | p.I139N | RefSeq | GRCh38/hg38 |
XM_011521783.4 | chr15:g.66443323T>A | c.416T>A | p.I139N | RefSeq | GRCh38/hg38 |
XM_017022411.2 | chr15:g.66436870T>A | c.416T>A | p.I139N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
MAP2K1 I139N | Advanced Solid Tumor | decreased response | CI-1040 | Preclinical - Biochemical | Actionable | In a preclinical study, MAP2K1 I139N demonstrated decreased sensitivity to CI-1040 (PD184352) in an in vitro kinase assay (PMID: 12370306). | 12370306 |