No paralogue variants have been mapped to residue 1742 for RYR1.
RYR1 | DLLISIHLESACRSRRSMLSEYIVPLTPET>R<AITLFPPGRSTENGHPRHGLPGVGVTTSLR | 1772 |
RYR2 | DLLIDIHLSSYATARLMMNNEYIVPMTEET>K<SITLFPD------ENKKHGLPGIGLSTSLR | 1758 |
RYR3 | DLLISIHLASAKERKLMMKNEYIIPITSTT>R<NIRLFPD------ESKRHGLPGVGLRTCLK | 1662 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1742H | c.5225G>A | Putative Benign | rs368039436 | SIFT: deleterious Polyphen: possibly damaging |