No paralogue variants have been mapped to residue 512 for RYR2.
RYR2 | LKNRQNLFQEEGMINLVLECIDRLHVYSSA>A<HFADVAGREAGESWKSILNSLYELLAALIR | 542 |
RYR1 | LRNRQSLFQEEGMLSMVLNCIDRLNVYTTA>A<HFAEFAGEEAAESWKEIVNLLYELLASLIR | 530 |
RYR3 | LKNRQNLFKEEGMLALVLNCIDRLNVYNSV>A<HFAGIAREESGMAWKEILNLLYKLLAALIR | 529 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A512P | c.1534G>C | Putative Benign | SIFT: Polyphen: |