No paralogue variants have been mapped to residue 4431 for RYR2.
RYR2 | -PVPMPE-V-QEKFQEQ--KA---KEEEKE>E<KEETKSEPEKAEGEDGEKEEKAKEDKGKQK | 4461 |
RYR1 | EPPTPEGSP-ILKRKLGVDGVEEELPPEPE>P<EPEPELEPEKADAENGEKEEVPEPTPEPPK | 4523 |
RYR3 | DEPPTLESTVQKKRKA---QA---AEMKAA>N<EAEGKVESEKADMEDGEKEDKDKEEEQAEY | 4364 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4431K | c.13291G>A | Inherited Arrhythmia | CPVT | SIFT: tolerated Polyphen: possibly damaging | |
Reports | Inherited Arrhythmia | CPVT | Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest. 2008 68(5):362-8. 18752142 | ||
Inherited Arrhythmia | CPVT | New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013 6(5):481-9. doi: 10.1161/CIRCGENETICS.113.000118. 24025405 |