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Gene | SF3B1 |
Variant | K666E |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | SF3B1 K666E lies within HEAT repeat 4 of the Sf3b1 protein (UniProt.org). K666E results in reduced growth when expressed in the context of a human/yeast Sf3b1 chimeric protein in yeast (PMID: 29752352), and aberrant splicing of Sf3b1 in cell culture (PMID: 32168916), and therefore, is predicted to lead to a loss of Sf3b1 protein function. |
Associated Drug Resistance |
Transcript | NM_012433.3 |
gDNA | chr2:g.197402637T>C |
cDNA | c.1996A>G |
Protein | p.K666E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_012433 | chr2:g.197402637T>C | c.1996A>G | p.K666E | RefSeq | GRCh38/hg38 |
NM_012433.3 | chr2:g.197402637T>C | c.1996A>G | p.K666E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
SF3B1 K666E | chronic lymphocytic leukemia | predicted - sensitive | Sudemycin D1 | Preclinical - Patient cell culture | Actionable | In a preclinical study, Sudemycin D1 treatment resulted in increased cytotoxicity (p<0.05) in chronic lymphocytic leukemia cells derived from patients harboring mutations in SF3B1 (n=14) or other RNA splicing/processing genes (n=8) compared to cells derived from patients without mutations (n=10) in culture, including 1 cell line harboring SF3B1 K666E (PMID: 26068951). | 26068951 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
SF3B1 K666E | loss of function - predicted |