D86H (p.Asp86His) variant of DCX (O43602)
D86H (p.Asp86His) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in SBHX. The record also includes published literature and structural context.
D86H (p.Asp86His) variant details
- p.Asp86His
- UniProt VAR 007825
- Pathogenic
- in SBHX
- Missense
- EBI: Pathogenic (in SBHX)
- UniProt: Pathogenic (in SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band… (PMID 10369164)