No paralogue variants have been mapped to residue 501 for RYR1.
RYR1 | RNRQSLFQEEGMLSMVLNCIDRLNVYTTAA>H<FAEFAGEEAAESWKEIVNLLYELLASLIRG | 531 |
RYR2 | KNRQNLFQEEGMINLVLECIDRLHVYSSAA>H<FADVAGREAGESWKSILNSLYELLAALIRG | 543 |
RYR3 | KNRQNLFKEEGMLALVLNCIDRLNVYNSVA>H<FAGIAREESGMAWKEILNLLYKLLAALIRG | 530 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H501R | c.1502A>G | Putative Benign | SIFT: Polyphen: |