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Gene | ALK |
Variant | S1206C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK S1206C lies within the protein kinase domain of the Alk protein (UniProt.org). S1206C has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 25421750), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK S1206C |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220734G>C |
cDNA | c.3617C>G |
Protein | p.S1206C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304 | chr2:g.29220734G>C | c.3617C>G | p.S1206C | RefSeq | GRCh38/hg38 |
NM_004304.4 | chr2:g.29220734G>C | c.3617C>G | p.S1206C | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220734G>C | c.3617C>G | p.S1206C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK S1206C ALK E1210K | lung non-small cell carcinoma | resistant | Brigatinib | Case Reports/Case Series | Actionable | In a clinical study, a non-small cell lung carcinoma patient harboring EML4-ALK and ALK E1210K eventually progressed on treatment with Alunbrig (brigatinib) and was subsequently found to have acquired another resistance mutation, ALK S1206C in cis (PMID: 29636358). | 29636358 |
ALK S1206C ALK E1210K | Advanced Solid Tumor | predicted - sensitive | TPX-0131 | Preclinical - Biochemical | Actionable | In a preclinical study, TPX-0131 inhibited kinase activity of ALK S1206C and ALK E1210K compound mutation in an in vitro assay (PMID: 34158340). | 34158340 |