No paralogue variants have been mapped to residue 2530 for RYR1.
RYR1 | ASMVLFLDRVYGIENQDFLLHVLDVGFLPD>M<RAAASLDTATFSTTEMALALNRYLCLAVLP | 2560 |
RYR2 | AAMVLFLDRVYGIEVQDFLLHLLEVGFLPD>L<RAAASLDTAALSATDMALALNRYLCTAVLP | 2526 |
RYR3 | APMVLFLDRVYGIKDQTFLLHLLEVGFLPD>L<RASASLDTVSLSTTEAALALNRYICSAVLP | 2423 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M2530L | c.7588A>C | Putative Benign | SIFT: Polyphen: |