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Gene | ALK |
Variant | G1269A |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK G1269A lies within the protein kinase domain of the Alk protein (UniProt.org). G1269A has been demonstrated to occur as a secondary resistance mutation in the context of ALK rearrangement (PMID: 30675302, PMID: 35123209, PMID: 29872693), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK G1269A |
Transcript | NM_004304.5 |
gDNA | chr2:g.29209816C>G |
cDNA | c.3806G>C |
Protein | p.G1269A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29209816C>G | c.3806G>C | p.G1269A | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29209816C>G | c.3806G>C | p.G1269A | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29209816C>G | c.3806G>C | p.G1269A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ALK G1269A | Advanced Solid Tumor | sensitive | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, a transformed cell line expressing ALK G1269A was sensitive to Alunbrig (brigatinib) in culture, resulting in cell growth inhibition (PMID: 27049722). | 27049722 |
ALK G1269A | Advanced Solid Tumor | sensitive | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Lorbrena (lorlatinib) treatment inhibited Alk phosphorylation and viability in transformed cells expressing ALK G1269A in culture (PMID: 27483357). | 27483357 |
ALK G1269A | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK G1269A in an in vitro assay (PMID: 34158340). | 34158340 |
ALK G1269A | Advanced Solid Tumor | predicted - sensitive | APG-2449 | Preclinical - Biochemical | Actionable | In a preclinical study, APG-2449 inhibited the kinase activity of ALK G1269A in culture (PMID: 35820889). | 35820889 |