No paralogue variants have been mapped to residue 1372 for RYR2.
RYR2 | DFEVLMKTAHGHLVPDRVDKDKEATKPEFN>N<HK--------------DYAQEKP-SR--LK | 1385 |
RYR1 | DYENLRRSAGGWSEAENGKEGTAKEGAPGG>T<PQAGGEAQPARAENEKDATTEKNKKRGFLF | 1390 |
RYR3 | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1372S | c.4115A>G | Putative Benign | SIFT: Polyphen: |