No paralogue variants have been mapped to residue 2512 for RYR2.
RYR2 | DFLLHLLEVGFLPDLRAAASLDTAALSATD>M<ALALNRYLCTAVLPLLTRCAPLFAGTEHHA | 2542 |
RYR1 | DFLLHVLDVGFLPDMRAAASLDTATFSTTE>M<ALALNRYLCLAVLPLITKCAPLFAGTEHRA | 2576 |
RYR3 | TFLLHLLEVGFLPDLRASASLDTVSLSTTE>A<ALALNRYICSAVLPLLTRCAPLFAGTEHCT | 2439 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2512T | c.7535T>C | Putative Benign | SIFT: Polyphen: |