G100A (p.Gly100Ala) variant of DCX (O43602)
G100A (p.Gly100Ala) in DCX (O43602) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LISX1 and SBHX. The record also includes published literature and structural context.
G100A (p.Gly100Ala) variant details
- p.Gly100Ala
- UniProt VAR 007826
- Pathogenic
- in LISX1 and SBHX
- Missense
- EBI: Pathogenic (in LISX1 and SBHX)
- UniProt: Pathogenic (in LISX1 and SBHX)
- Structural context available
- Cited in: Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia. (PMID 11175293)
- Cited in: Human doublecortin (DCX) and the homologous gene in mouse encode a putative Ca2+-dependent signaling protein which is… (PMID 9668176)