Details of mutation DES:P419S

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DESP419Sc.1255C>Tp.Pro419Ser72q35MissensePathogenic   Tail 

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Hedberg et al. European Journal of Human Genetics 2012;20:984-5. Article details 0/0 TFC+7For clinical description see Melberg et al.
Melberg et al. Annals of Neurology 1999;46:984-692. Article details TFC+; N=3 Suggested linkage to chromosome 10q22.3
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SNP reports

No SNP reports found.