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NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) AND Spastic paraplegia 8

Significance: Pathogenic
ClinVar: RCV000001222

Variant: NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp)

Type: Variant
Allele: NM_014846.3(WASHC5):c.1411A>G (p.Asn471Asp) 16202
Gene:
Type: single nucleotide variant
Location: Chr8: 126073434 - assembly GRCh37
Chr8: 125061192 - assembly GRCh38
References: dbSNP: 80338865
OMIM: 610657.0003
UniProtKB: Q12768#VAR_031955

Condition

Disease: Spastic paraplegia 8

Citation

    In a small family of European origin, Valdmanis et al. (2007) found that hereditary spastic paraplegia (SPG8; 603563) segregated with an N471D mutation in the KIAA0196 gene. The amino acid substitution arose from a 1491A-G transition in exon 11. In cellular studies, Clemen et al. (2010) found that the mutant N471D protein had normal subcellular localization and colocalization with VCP (601023). Expression of the N471D protein showed no effect on the velocity of wound healing compared to wildtype in an vitro-based assay.
PMID:17160902, PMID:20833645