No paralogue variants have been mapped to residue 1746 for RYR1.
RYR1 | SIHLESACRSRRSMLSEYIVPLTPETRAIT>L<FPPGRSTENGHPRHGLPGVGVTTSLRPPHH | 1776 |
RYR2 | DIHLSSYATARLMMNNEYIVPMTEETKSIT>L<FPD------ENKKHGLPGIGLSTSLRPRMQ | 1762 |
RYR3 | SIHLASAKERKLMMKNEYIIPITSTTRNIR>L<FPD------ESKRHGLPGVGLRTCLKPGFR | 1666 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L1746F | c.5236C>T | Putative Benign | SIFT: Polyphen: |