NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) AND Spastic paraplegia 8
| Significance: | Pathogenic |
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| ClinVar: | RCV000001222 |
Variant: NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) |
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| Type: | Variant |
Allele: NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) 16202 |
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| Gene: | WASHC5 |
| Type: | single nucleotide variant |
| Location: |
Chr8: 125061192
- assembly
GRCh38 Chr8: 126073434 - assembly GRCh37 |
| References: | dbSNP:
80338865 OMIM: 610657.0003 UniProtKB: Q12768#VAR_031955 |
Condition |
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| Disease: | Spastic paraplegia 8 |
Citation |
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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 heterozygous 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 |
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