Preferred Label : CXCR4 WHIM-Like Mutation;
NCIt synonyms : C-X-C Chemokine Receptor Type 4 WHIM-Like Mutation; CXCR-4 WHIM-Like Mutation; Chemokine (C-X-C Motif) Receptor 4 WHIM-Like Mutation;
NCIt definition : Somatic point mutations or frameshift mutations in the CXCR4 gene that result in the
truncation of between 10 and 19 amino acid residues from the carboxyl terminus of
C-X-C chemokine receptor type 4 protein (CXCR-4) and are associated with Waldenstrom
Macroglobulinemia. These mutations are similar to those found in the hereditary disease
WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome and encode
a constitutively active form of the CXCR-4 protein.;
NCIt note : The most well characterized CXCR4 WHIM-like mutation is a nonsense mutation where
cytosine has been substituted with guanine in position of 1013 of the CXCR4 gene (NM_003467.2:c.1013C
G). This results in substitution of the serine at codon 338 in the C-X-C chemokine
receptor type 4 protein with a stop codon (NP_003458.1:p.Ser338Ter).;
Origin ID : C124130;
UMLS CUI : C4086112;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
