No paralogue variants have been mapped to residue 2793 for RYR2.
RYR2 | LSEKEKEIYRWPIKESLKTMLAWGWRIERT>R<EGDSMALYNRTRRISQTSQV--SVDAAHGY | 2821 |
RYR1 | FSEKDKEIYRWPIKESLKAMIAWEWTIEKA>R<EGEEEK--TEKKKTRKISQSAQTYDPREGY | 2855 |
RYR3 | LTEKEKEIYRWPARESLKTMLAVGWTVERT>K<EGEALVQQRENEKLRSVSQA--NQ--GNSY | 2716 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2793W | c.8377C>T | Putative Benign | rs373172640 | SIFT: deleterious Polyphen: probably damaging | |
p.R2793Q | c.8378G>A | Putative Benign | SIFT: tolerated Polyphen: benign |