No paralogue variants have been mapped to residue 4741 for RYR2.
RYR2 | GVVFTDNSFLYLAWYMTMSVLGHYNNFFFA>A<HLLDIAMGFKTLRTILSSVTHNGKQLVLTV | 4771 |
RYR1 | GVIFTDNSFLYLGWYMVMSLLGHYNNFFFA>A<HLLDIAMGVKTLRTILSSVTHNGKQLVMTV | 4842 |
RYR3 | GVVFTDNSFLYLAWYTTMSVLGHYNNFFFA>A<HLLDIAMGFKTLRTILSSVTHNGKQLVLTV | 4674 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4741V | c.14222C>T | Inherited Arrhythmia | CPVT | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | CPVT | Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS One. 2015 10(6):e0131517. doi: 10.1371/journal.pone.0131517. 26114861 |