Y63C (p.Tyr63Cys) variant of KIF5A (Kinesin heavy chain isoform 5A)
Y63C (p.Tyr63Cys) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SPG10. The record also includes published literature and structural context.
Y63C (p.Tyr63Cys) variant details
- p.Tyr63Cys
- UniProt VAR 058741
- Pathogenic
- in SPG10
- Missense
- EBI: Pathogenic (in SPG10)
- UniProt: Pathogenic (in SPG10)
- Structural context available
- Cited in: Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10. (PMID 18853458)
- Cited in: A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). (PMID 12355402)