Details of mutation DSP:K470E

GeneMutationDNA changeProtein changeExonLocusTypeReported ClassificationGrantham ScoreSIFTPolyPhenDomainNotesLOVD ID
DSPK470Ec.1408A>Gp.Lys470Glu116p24MissensePathogenic56Affect protein functionBenignPKP1 and JUP interacting domain; spectrin repeat 5  DSP_00021

Clinical reports of this mutation in patients and controls

ArticleArticle detailsControlsPatient# Affected RelativesNotes
Rigato et al. Circulation Cardiovascular Genetics 2013;6:533-42. Article details 0/0 TFC+; N=2 See Basso et al. 2006
Al-Jasser et al. Journal of Molecular Biology 2011;411:1049-61. Article details 0/0   Causes local conformational alterations while the overall folded structure is maintained.
Bauce et al. Heart Rhythm 2011;8:1686-95. Article details 0/0   See Basso et al.
Rampazzo et al. European Heart Journal 2008;29:Suppl; 737. Article details 0/0   See Basso et al. Reported as "probably pathogenic mutation"
Basso et al. European Heart Journal 2006;27:1847-54. Article details 0/200 TFC+ Compound heterozygote: DSP A556T
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SNP reports

No SNP reports found.