No paralogue variants have been mapped to residue 493 for RYR1.
RYR1 | KQSKLRSLRNRQSLFQEEGMLSMVLNCIDR>L<NVYTTAAHFAEFAGEEAAESWKEIVNLLYE | 523 |
RYR2 | KQNRLRALKNRQNLFQEEGMINLVLECIDR>L<HVYSSAAHFADVAGREAGESWKSILNSLYE | 535 |
RYR3 | KQNKLRSLKNRQNLFKEEGMLALVLNCIDR>L<NVYNSVAHFAGIAREESGMAWKEILNLLYK | 522 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L493P | c.1478T>C | Putative Benign | SIFT: deleterious Polyphen: probably damaging |