No paralogue variants have been mapped to residue 1077 for RYR2.
RYR2 | KDSLREAVRTLLGYGYNLEAPDQDHAARAE>V<CSGTGERFRIFRAEKTYAVKAGRWYFEFET | 1107 |
RYR1 | RDSLCQAVRTLLGYGYNIEPPDQEP-SQVE>N<-QSRCDRVRIFRAEKSYTVQSGRWYFEFEA | 1093 |
RYR3 | RDSLREAVRTFVGYGYNIEPSDQEL-ADSA>V<EKVSIDKIRFFRVERSYAVRSGKWYFEFEV | 1093 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1077A | c.3230T>C | Putative Benign | rs202176504 | SIFT: tolerated Polyphen: benign |