Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | ALK |
Variant | L1152P |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK L1152P lies within the protein kinase domain of the Alk protein (UniProt.org). L1152P has been demonstrated to confer drug resistance in the context of ALK rearrangement in culture (PMID: 24675041), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ALK mutant ALK L1152P |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222404A>G |
cDNA | c.3455T>C |
Protein | p.L1152P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222404A>G | c.3455T>C | p.L1152P | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222404A>G | c.3455T>C | p.L1152P | RefSeq | GRCh38/hg38 |
NM_004304 | chr2:g.29222404A>G | c.3455T>C | p.L1152P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK L1152P | Advanced Solid Tumor | sensitive | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Alunbrig (brigatinib) inhibited growth of transformed cells expressing ALK L1152P in the context of EML4-ALK in culture (PMID: 27780853). | 27780853 |
EML4 - ALK ALK L1152P | Advanced Solid Tumor | sensitive | Brigatinib | Preclinical - Cell culture | Actionable | In a preclinical study, Alunbrig (brigatinib) treatment inhibited viability of transformed cells expressing EML4-ALK with ALK L1152P in culture (PMID: 35421578). | 35421578 |
EML4 - ALK ALK L1152P | Advanced Solid Tumor | resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ALK L1152P in the context of EML4-ALK demonstrated reduced sensitivity to Xalkori (crizotinib) compared to cells expressing EML4-ALK in culture (PMID: 27780853). | 27780853 |
EML4 - ALK ALK L1152P | Advanced Solid Tumor | resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK L1152P demonstrated resistance to Xalkori (crizotinib) in culture (PMID: 24675041). | 24675041 |
EML4 - ALK ALK L1152P | Advanced Solid Tumor | resistant | Ceritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing ALK L1152P in the context of EML4-ALK demonstrated reduced sensitivity to Zykadia (ceritinib) compared to cells expressing EML4-ALK in culture (PMID: 27780853). | 27780853 |
EML4 - ALK ALK L1152P | Advanced Solid Tumor | sensitive | Iruplinalkib | Preclinical - Cell culture | Actionable | In a preclinical study, Iruplinalkib (WX-0593) treatment inhibited viability of transformed cells expressing EML4-ALK with ALK L1152P in culture (PMID: 35421578). | 35421578 |