No paralogue variants have been mapped to residue 1730 for RYR2.
RYR2 | AGYYDLLIDIHLSSYATARLMMNNEYIVPM>T<EETKSITLFPD------ENKKHGLPGIGLS | 1754 |
RYR1 | AGYYDLLISIHLESACRSRRSMLSEYIVPL>T<PETRAITLFPPGRSTENGHPRHGLPGVGVT | 1768 |
RYR3 | SGFYDLLISIHLASAKERKLMMKNEYIIPI>T<STTRNIRLFPD------ESKRHGLPGVGLR | 1658 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1730M | c.5189C>T | Putative Benign | SIFT: Polyphen: |