No paralogue variants have been mapped to residue 1109 for RYR1.
RYR1 | SYTVQSGRWYFEFEAVTTGEMRVGWARPEL>R<PDVELGADELAYVFNGHRGQRWHLGSEPFG | 1139 |
RYR2 | TYAVKAGRWYFEFETVTAGDMRVGWSRPGC>Q<PDQELGSDERAFAFDGFKAQRWHQGNEHYG | 1153 |
RYR3 | SYAVRSGKWYFEFEVVTGGDMRVGWARPGC>R<PDVELGADDQAFVFEGNRGQRWHQGSGYFG | 1139 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1109K | c.3326G>A | Benign | rs35719391 | SIFT: Polyphen: possibly damaging |