No paralogue variants have been mapped to residue 498 for RYR2.
RYR2 | EHLEHEDKQNRLRALKNRQNLFQEEGMINL>V<LECIDRLHVYSSAAHFADVAGREAGESWKS | 528 |
RYR1 | EDLQHEEKQSKLRSLRNRQSLFQEEGMLSM>V<LNCIDRLNVYTTAAHFAEFAGEEAAESWKE | 516 |
RYR3 | EEMRHEDKQNKLRSLKNRQNLFKEEGMLAL>V<LNCIDRLNVYNSVAHFAGIAREESGMAWKE | 515 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V498M | c.1492G>A | Putative Benign | SIFT: Polyphen: |