Details of mutation DSP:R808C

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSPR808Cc.2422C>Tp.Arg808Cys176p24MissenseUnknown/UV180Affect protein functionProbably damagingSpectrin repeat 8 

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Al-Jasser et al. Journal of Molecular Biology 2011;411:1049-61. Article details 0/1200 TFC+ Causes local conformational alterations while the overall folded structure is maintained.
UNPUBLISHED. Contact curators for more information . Article details 0/0 DCM1Brother SCD at age 46.
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SNP reports

No SNP reports found.