No paralogue variants have been mapped to residue 3717 for RYR1.
RYR1 | EEEVEEKKPDPLHQLVLHFSRTALTEKSKL>D<EDYLYMAYADIMAKSCHLEEGGENGEAEEE | 3747 |
RYR2 | EEDEGTKRVDPLHQLILLFSRTALTEKCKL>E<EDFLYMAYADIMAKSCHDEED-D--DGEEE | 3710 |
RYR3 | EEEETEKQPDPLHQIILYFSRNALTERSKL>E<DDPLYTSYSSMMAKSCQSGED-E--EEDED | 3599 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D3717H | c.11149G>C | Putative Benign | SIFT: Polyphen: |