No paralogue variants have been mapped to residue 499 for RYR2.
RYR2 | HLEHEDKQNRLRALKNRQNLFQEEGMINLV>L<ECIDRLHVYSSAAHFADVAGREAGESWKSI | 529 |
RYR1 | DLQHEEKQSKLRSLRNRQSLFQEEGMLSMV>L<NCIDRLNVYTTAAHFAEFAGEEAAESWKEI | 517 |
RYR3 | EMRHEDKQNKLRSLKNRQNLFKEEGMLALV>L<NCIDRLNVYNSVAHFAGIAREESGMAWKEI | 516 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L499F | c.1495C>T | Putative Benign | SIFT: deleterious Polyphen: benign |