No paralogue variants have been mapped to residue 4716 for RYR2.
RYR2 | KKPKKDSSLSAVLNSIDVKYQMWKLGVVFT>D<NSFLYLAWYMTMSVLGHYNNFFFAAHLLDI | 4746 |
RYR1 | -KPNPPPGLLTWLMSIDVKYQIWKFGVIFT>D<NSFLYLGWYMVMSLLGHYNNFFFAAHLLDI | 4817 |
RYR3 | -KA-EAASLVSWLSSIDMKYHIWKLGVVFT>D<NSFLYLAWYTTMSVLGHYNNFFFAAHLLDI | 4649 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Asp4716Glu | c.14148C>A | Unknown | SIFT: Polyphen: |