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Gene MAP2K1
Variant E102_I103del
Impact List deletion
Protein Effect gain of function
Gene Variant Descriptions MAP2K1 E102_I103del results in the deletion of two amino acids in the protein kinase domain of the Map2k1 protein from amino acids 102 to 103 (UniProt.org). E102_I103del confers a gain of function to the Map2k1 protein as demonstrated by activity independent of Raf and increased phosphorylation of Mek and Erk relative to wild-type Map2k1 (PMID: 29483135), increased Erk phosphorylation (PMID: 32036070, PMID: 25202140) and Mek homodimerization in culture (PMID: 30377225), increased proliferation in a competition assay, and increased transformation activity in culture (PMID: 36442478).
Associated Drug Resistance
Category Variants Paths

MAP2K1 mutant MAP2K1 act mut MAP2K1 E102_I103del

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Transcript NM_002755.4
gDNA chr15:g.66436758_66436763delGAGATC
cDNA c.304_309delGAGATC
Protein p.E102_I103delEI
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017022413 chr15:g.66485128_66485133delCAGGTG c.304_309delCAGGTG p.Q102_V103delQV RefSeq GRCh38/hg38
NM_002755.3 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
NM_002755.4 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_017022411.2 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_017022411.3 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_011521783.3 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_017022412.1 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
NM_002755 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_017022411 chr15:g.66436758_66436763delGAGATC c.304_309delGAGATC p.E102_I103delEI RefSeq GRCh38/hg38
XM_011521783 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
NM_001411065.1 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_017022412 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_011521783.4 chr15:g.66436824_66436829delCCGTAC c.304_309delCCGTAC p.P102_Y103delPY RefSeq GRCh38/hg38
XM_017022413.1 chr15:g.66485128_66485133delCAGGTG c.304_309delCAGGTG p.Q102_V103delQV RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
MAP2K1 E102_I103del Advanced Solid Tumor resistant Trametinib Preclinical - Biochemical Actionable In a preclinical study, transformed cells expressing MAP2K1 E102_I103del were less sensitive to Mekinist (trametinib) compared to to similar mutations in the negative regulatory domain of the Map2k1 protein in culture (PMID: 32641410). 32641410
MAP2K1 E102_I103del Advanced Solid Tumor resistant Trametinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells expressing MAP2K1 E102_I103del were resistant to Mekinist (trametinib) in culture (PMID: 36442478). 36442478
MAP2K1 E102_I103del histiocytosis predicted - sensitive Cobimetinib Case Reports/Case Series Actionable In a clinical case study, Cotellic (cobimetinib) resulted in dramatic clinical improvement and decreased variant allele frequency in a patient with mixed histiocytosis harboring MAP2K1 E102_I103del, with the patient remaining disease free at least 3 years after treatment initiation (PMID: 36406830). 36406830
MAP2K1 E102_I103del Advanced Solid Tumor predicted - sensitive SCH772984 Preclinical - Biochemical Actionable In a preclinical study, SCH772984 inhibited downstream signaling in transformed cells expressing MAP2K1 E102_I103del in culture (PMID: 32641410). 32641410
MAP2K1 E102_I103del histiocytosis predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) treatment resulted in complete remission of cutaneous lesions and resolution of the pituitary gland enlargement and associated symptoms in a patient with Langerhans cell histiocytosis harboring MAP2K1 E102_I103del (PMID: 35172489). 35172489
MAP2K1 E102_I103del histiocytosis predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, Mekinist (trametinib) treatment resulted in symptom improvement, resolution of the partial pneumothorax, and reduction in cystic lesions in a patient with pulmonary Langerhans cell histiocytosis harboring MAP2K1 E102_I103del (PMID: 29694792). 29694792
MAP2K1 E102_I103del histiocytosis predicted - sensitive Trametinib Case Reports/Case Series Actionable In a clinical case study, treatment with Mekinist (trametinib) resulted in complete remission in a pediatric patient with Langerhans cell histiocytosis harboring MAP2K1 E102_I103del, with treatment ongoing for at least 10 months (PMID: 36730444). 36730444