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NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) AND Deafness, autosomal recessive 48

Significance: Pathogenic
ClinVar: RCV000032888

Variant: NM_006383.4(CIB2):c.297C>G (p.Cys99Trp)

Type: Variant
Allele: NM_006383.4(CIB2):c.297C>G (p.Cys99Trp) 48285
Gene:
Type: single nucleotide variant
Location: Chr15: 78401626 - assembly GRCh37
Chr15: 78109284 - assembly GRCh38
References: dbSNP: 370965183
OMIM: 605564.0002
UniProtKB: O75838#VAR_069088

Condition

Disease: Deafness, autosomal recessive 48

Citation

    In affected members of 2 Pakistani families with DFNB48 (609439), Riazuddin et al. (2012) identified a homozygous 297C-G transversion in the CIB2 gene, resulting in a cys99-to-trp (C99W) substitution at a highly conserved residue. Haplotype analysis was consistent with a founder effect. The C99W mutation was found in 5 of 1,068 Pakistani control chromosomes, but not in several large exome databases. Transfection of the mutation into COS-7 cells abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell.
PMID:23023331