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Gene BTK
Variant C481A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BTK C481A lies within the protein kinase domain of the Btk protein (UniProt.org). C481A interferes with drug binding, leading to ibrutinib resistance (PMID: 24869597), but has not been biochemically characterized and therefore, its effect on Btk protein function is unknown (PubMed, Apr 2022).
Associated Drug Resistance Y

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Transcript NM_000061.2
gDNA chrX:g.101356176_101356177delTGinsGC
cDNA c.1441_1442delTGinsGC
Protein p.C481A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000061 chrX:g.101356176_101356177delCAinsGC c.1441_1442delTGinsGC p.C481A RefSeq GRCh38/hg38
NM_000061.2 chrX:g.101356176_101356177delTGinsGC c.1441_1442delTGinsGC p.C481A RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK C481A chronic lymphocytic leukemia predicted - resistant Ibrutinib Preclinical Actionable In a preclinical study, patients with BTK C481 were predicted to have resistance to Imbruvica (ibrutinib) since C481 is in the covalent binding site of the BTK inhibitor and C481A interferes with drug binding (PMID: 24869597). 24869597
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BTK C481X chronic lymphocytic leukemia predicted - resistant Ibrutinib Phase II Actionable In a Phase II trial, BTK C481X and/or PLCG2 mutations were identified in 80% (8/10) of patients with progressive disease and in 20% (1/5) of patients with prolymphocytic transformation of chronic lymphocytic leukemia while on Imbruvica (ibrutinib) treatment (PMID: 28049639, NCT01500733). 28049639
Molecular Profile Protein Effect Treatment Approaches
BTK C481A unknown