No paralogue variants have been mapped to residue 4751 for RYR2.
RYR2 | YLAWYMTMSVLGHYNNFFFAAHLLDIAMGF>K<TLRTILSSVTHNGKQLVLTVGLLAVVVYLY | 4781 |
RYR1 | YLGWYMVMSLLGHYNNFFFAAHLLDIAMGV>K<TLRTILSSVTHNGKQLVMTVGLLAVVVYLY | 4852 |
RYR3 | YLAWYTTMSVLGHYNNFFFAAHLLDIAMGF>K<TLRTILSSVTHNGKQLVLTVGLLAVVVYLY | 4684 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K4751Q | c.14251A>C | Inherited Arrhythmia | CPVT | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | CPVT | Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. Circ J. 2013 77(7):1705-13. 23595086 |