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NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) AND Deafness, autosomal dominant 20

Significance: Pathogenic
ClinVar: RCV000019980

Variant: NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile)

Type: Variant
Allele: NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) 33354
Gene:
Type: single nucleotide variant
Location: Chr17: 81512000 - assembly GRCh38
Chr17: 79479026 - assembly GRCh37
References: dbSNP: 28999111
OMIM: 102560.0001
UniProtKB: P63261#VAR_032434

Condition

Disease: Deafness, autosomal dominant 20

Citation

    In 17 affected members of a family segregating autosomal dominant progressive sensorineural hearing loss (604717), Zhu et al. (2003) identified a 340C-T transition in exon 3 of the processed ACTG1 mRNA, resulting in a thr89-to-ile (T89I) substitution in subdomain 1. The mutation is in an alpha helix that is thought to participate in the binding of fimbrin (PLS3; 300131), a bundling protein. This amino acid is perfectly conserved in cytoplasmic actin, in species ranging from nematodes to mammals. The mutation was not identified in 220 control chromosomes.
PMID:13680526