No paralogue variants have been mapped to residue 2558 for RYR1.
RYR1 | PDMRAAASLDTATFSTTEMALALNRYLCLA>V<LPLITKCAPLFAGTEHRAIMVDSMLHTVYR | 2588 |
RYR2 | PDLRAAASLDTAALSATDMALALNRYLCTA>V<LPLLTRCAPLFAGTEHHASLIDSLLHTVYR | 2554 |
RYR3 | PDLRASASLDTVSLSTTEAALALNRYICSA>V<LPLLTRCAPLFAGTEHCTSLIDSTLQTIYR | 2451 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2558M | c.7672G>A | Putative Benign | SIFT: Polyphen: | ||
p.V2558A | c.7673T>C | Putative Benign | SIFT: Polyphen: |