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Gene | ALK |
Variant | G1128A |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ALK G1128A lies within the protein kinase domain of the Alk protein (UniProt.org). G1128A confers a gain of function to the Alk protein as demonstrated by increased activation in in vitro assays (PMID: 21838707, PMID: 33674381, PMID: 25517749) and transformation in cultured cells (PMID: 21838707, PMID: 33674381, PMID: 25517749). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK act mut ALK G1128A |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222584C>G |
cDNA | c.3383G>C |
Protein | p.G1128A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29222584C>G | c.3383G>C | p.G1128A | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29222584C>G | c.3383G>C | p.G1128A | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222584C>G | c.3383G>C | p.G1128A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK G1128A | Advanced Solid Tumor | sensitive | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, a transformed cell line expressing ALK G1128A was sensitive to Alunbrig (brigatinib) in culture, resulting in cell growth inhibition (PMID: 27049722). | 27049722 |
ALK G1128A | Advanced Solid Tumor | sensitive | Repotrectinib | Preclinical - Cell culture | Actionable | In a preclinical study, Augtyro (repotrectinib) decreased Alk phosphorylation and neurite outgrowth in cells expressing ALK G1128A in culture (PMID: 31852910). | 31852910 |