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Gene | ABL1 |
Variant | M351T |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ABL1 M351T lies within the protein kinase domain of the Abl1 protein (UniProt.org). M351T results in loss of inhibitor binding (PMID: 24456693) and decreased kinase activity in cell culture (PMID: 33820471), has been demonstrated to occur as a secondary resistance mutation (PMID: 16046538, PMID: 16880519), and in the context of BCR-ABL1 leads to decreased transformation activity and kinase activity compared to wild-type BCR-ABL1 (PMID: 16046538, PMID: 16880519), and therefore, is predicted to lead to a loss of Abl1 protein function. |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 inact mut ABL1 M351T |
Transcript | NM_005157.6 |
gDNA | chr9:g.130873004T>C |
cDNA | c.1052T>C |
Protein | p.M351T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130873004T>C | c.1052T>C | p.M351T | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130873004T>C | c.1052T>C | p.M351T | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130873004T>C | c.1052T>C | p.M351T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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