No paralogue variants have been mapped to residue 1708 for RYR1.
RYR1 | NRVAHALCSHVDQAQLLHALEDAHLPGPLR>A<GYYDLLISIHLESACRSRRSMLSEYIVPLT | 1738 |
RYR2 | HRVAHALCSHVDEPQLLYAIENKYMPGLLR>A<GYYDLLIDIHLSSYATARLMMNNEYIVPMT | 1730 |
RYR3 | SRVAYALCSHVDLSQLFYAIDNKYLPGLLR>S<GFYDLLISIHLASAKERKLMMKNEYIIPIT | 1634 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A1708S | c.5122G>T | Putative Benign | rs376833141 | SIFT: tolerated Polyphen: benign |