No paralogue variants have been mapped to residue 4712 for RYR2.
RYR2 | AREKKKPKKDSSLSAVLNSIDVKYQMWKLG>V<VFTDNSFLYLAWYMTMSVLGHYNNFFFAAH | 4742 |
RYR1 | HNER-KPNPPPGLLTWLMSIDVKYQIWKFG>V<IFTDNSFLYLGWYMVMSLLGHYNNFFFAAH | 4813 |
RYR3 | VEET-KA-EAASLVSWLSSIDMKYHIWKLG>V<VFTDNSFLYLAWYTTMSVLGHYNNFFFAAH | 4645 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4712F | c.14134G>T | Putative Benign | rs368627292 | SIFT: deleterious Polyphen: probably damaging |