No paralogue variants have been mapped to residue 1371 for RYR1.
RYR1 | WSEAENGKEGTAKEGAPGGTPQAGGEAQPA>R<AENEKDATTEKNKKRGFLFKAKKVAMMTQP | 1401 |
RYR2 | HLVPDRVDKDKEATKPEFNNHK-------->-<-----DYAQEKP-SR--LKQRFLLRRTKPD | 1396 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1371S | c.4113G>C | Putative Benign | SIFT: tolerated Polyphen: benign |