NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) AND Deafness, autosomal dominant 20
| Significance: | Pathogenic |
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| ClinVar: | RCV000019980 |
Variant: NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) |
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| Type: | Variant |
Allele: NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) 33354 |
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| Gene: | ACTG1 |
| Type: | single nucleotide variant |
| Location: |
Chr17: 81512000
- assembly
GRCh38 Chr17: 79479026 - assembly GRCh37 |
| References: | dbSNP:
28999111 OMIM: 102560.0001 UniProtKB: P63261#VAR_032434 |
Condition |
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| Disease: | Deafness, autosomal dominant 20 |
Citation |
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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 |
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