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Gene | ALK |
Variant | E1129V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ALK E1129V lies within the protein kinase domain of the Alk protein (UniProt.org). E1129V has been identified in the scientific literature (PMID: 34890832, PMID: 36093526, PMID: 33161228), but has not been biochemically characterized and therefore, its effect on Alk protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
ALK mutant ALK E1129V |
Transcript | NM_004304.5 |
gDNA | chr2:g.29222581T>A |
cDNA | c.3386A>T |
Protein | p.E1129V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_004304.4 | chr2:g.29222581T>A | c.3386A>T | p.E1129V | RefSeq | GRCh38/hg38 |
NM_004304.5 | chr2:g.29222581T>A | c.3386A>T | p.E1129V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
EML4 - ALK ALK E1129V ALK I1171T ALK F1174C ALK F1174L ALK F1174V ALK G1269A | lung adenocarcinoma | predicted - resistant | Crizotinib | Case Reports/Case Series | Actionable | In a clinical case study, ALK E1129V, F1174C, F1174L, F1174V, I1171T, and G1269A were identified in the post-progression biopsy of a patient with metastatic lung adenocarcinoma harboring EML4-ALK (e13:e20), who previously responded to Xalkori (crizotinib) treatment (PMID: 36093526). | 36093526 |
EML4 - ALK ALK E1129V ALK I1171T ALK F1174C ALK F1174L ALK F1174V ALK G1269A | lung adenocarcinoma | predicted - sensitive | Brigatinib | Case Reports/Case Series | Actionable | In a clinical case study, Alunbrig (brigatinib) treatment resulted in stable disease with a progression-free survival of 10 months in a patient with lung adenocarcinoma harboring EML4-ALK (e13:e20), ALK E1129V, F1174C, F1174L, F1174V, I1171T, and G1269A (PMID: 36093526). | 36093526 |
ALK rearrange ALK E1129V | lung non-small cell carcinoma | predicted - resistant | Alectinib | Case Reports/Case Series | Actionable | In a clinical study, ALK E1129V was identified in 4% (2/56) of patients with non-small cell lung cancer harboring an ALK rearrangement after progression on second-line Alecensa (alectinib) treatment following Xalkori (crizotinib) resistance (Ann of Oncol (2022) 33 (suppl_7): S448-S554). | detail... |
EML4 - ALK ALK E1129V | lung non-small cell carcinoma | predicted - sensitive | Ceritinib | Case Reports/Case Series | Actionable | In a Phase I trial, Zykadia (ceritinib) treatment resulted in a partial response with a progression-free survival lasting at least 400 days in a patient with non-small cell lung cancer harboring EML4-ALK (e6:e20) and ALK E1129V (PMID: 34890832; NCT01283516). | 34890832 |
EML4 - ALK ALK E1129V ALK G1202R | Advanced Solid Tumor | resistant | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK G1202R and E1129V were resistant to Lorbrena (lorlatinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK G1202R | Advanced Solid Tumor | resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK G1202R and E1129V were resistant to Xalkori (crizotinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK G1202R | Advanced Solid Tumor | resistant | Alectinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK G1202R and E1129V were resistant to Alecensa (alectinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK G1202R | Advanced Solid Tumor | sensitive | TPX-0131 | Preclinical - Cell culture | Actionable | In a preclinical study, TPX-0131 treatment inhibited Alk phosphorylation and viability of transformed cells expressing EML4-ALK with ALK G1202R and E1129V in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK G1202R | Advanced Solid Tumor | resistant | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK G1202R and E1129V were resistant to Xospata (gilteritinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK I1171N | Advanced Solid Tumor | resistant | Lorlatinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and E1129V were resistant to Lorbrena (lorlatinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK I1171N | Advanced Solid Tumor | resistant | Crizotinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and E1129V were resistant to Xalkori (crizotinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK I1171N | Advanced Solid Tumor | resistant | Alectinib | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and E1129V were resistant to Alecensa (alectinib) in culture (PMID: 36201110). | 36201110 |
EML4 - ALK ALK E1129V ALK I1171N | Advanced Solid Tumor | resistant | TPX-0131 | Preclinical - Cell culture | Actionable | In a preclinical study, transformed cells expressing EML4-ALK with ALK I1171N and E1129V were resistant to TPX-0131 in culture (PMID: 36201110). | 36201110 |