GENETIC ENCYCLOPEDIA
ABOUT US    

   

NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) AND Deafness, autosomal dominant 20

Significance: Pathogenic
ClinVar: RCV000019985

Variant: NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala)

Type: Variant
Allele: NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) 33359
Gene:
Type: single nucleotide variant
Location: Chr17: 81510709 - assembly GRCh38
Chr17: 79477735 - assembly GRCh37
References: dbSNP: 104894547
OMIM: 102560.0006
UniProtKB: P63261#VAR_032439

Condition

Disease: Deafness, autosomal dominant 20

Citation

    In 19 affected members of a large Norwegian family with autosomal dominant DFNA20 (604717), Rendtorff et al. (2006) identified a heterozygous 1109T-C transition in exon 6 of the ACTG1 gene, resulting in a val370-to-ala (V370A) substitution in a highly conserved region. Functional expression studies in yeast showed that the mutant protein suppressed growth; computer modeling suggested that the V370A substitution impaired hydrophobic interactions and destabilized the position of the C-terminal tail of the protein. The family had originally been reported by Teig (1968).
PMID:16773128, PMID:5654493