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Gene | ALK |
Variant | L1198H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1198H lies within the protein kinase domain of the Alk protein (UniProt.org). L1198H has been demonstrated to occur as a secondary drug resistance mutation in the context of ALK compound mutations (PMID: 29650534), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Nov 2023). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1198X ALK L1198H |
Transcript | NM_004304.5 |
gDNA | chr2:g.29220758A>T |
cDNA | c.3593T>A |
Protein | p.L1198H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29220758A>T | c.3593T>A | p.L1198H | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29220758A>T | c.3593T>A | p.L1198H | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29220758A>T | c.3593T>A | p.L1198H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | predicted - resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and L1198H demonstrated resistance to treatment with Xalkori (crizotinib) in culture (PMID: 33627640). | 33627640 |
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | resistant | Alectinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and L1198H were resistant to treatment with Alecensa (alectinib) in culture (PMID: 33627640). | 33627640 |
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | resistant | Ceritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and L1198H were resistant to treatment with Zykadia (ceritinib) in culture (PMID: 33627640). | 33627640 |
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | predicted - resistant | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and L1198H demonstrated resistance to treatment with Alunbrig (brigatinib) in culture (PMID: 33627640). | 33627640 |
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | resistant | Entrectinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and L1198H were resistant to treatment with Rozlytrek (entrectinib) in culture (PMID: 33627640). | 33627640 |
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | resistant | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and L1198H were resistant to treatment with Lorbrena (lorlatinib) in culture (PMID: 33627640). | 33627640 |
EML4 - ALK ALK I1171N ALK L1198H | Advanced Solid Tumor | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xospata (gilteritinib) inhibited viability of transformed cells expressing EML4-ALK with ALK I1171N and ALK L1198H in culture (PMID: 33627640). | 33627640 |