No paralogue variants have been mapped to residue 1691 for RYR1.
RYR1 | FHSHTLRLYRAVCALGNNRVAHALCSHVDQ>A<QLLHALEDAHLPGPLRAGYYDLLISIHLES | 1721 |
RYR2 | FHYHTLRLYSAVCALGNHRVAHALCSHVDE>P<QLLYAIENKYMPGLLRAGYYDLLIDIHLSS | 1713 |
RYR3 | FHYHTLRLYSAVCALGNSRVAYALCSHVDL>S<QLFYAIDNKYLPGLLRSGFYDLLISIHLAS | 1617 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1691V | c.5072C>T | Putative Benign | SIFT: Polyphen: |