No paralogue variants have been mapped to residue 1753 for RYR1.
RYR1 | CRSRRSMLSEYIVPLTPETRAITLFPPGRS>T<ENGHPRHGLPGVGVTTSLRPPHHFSPPCFV | 1783 |
RYR2 | ATARLMMNNEYIVPMTEETKSITLFPD--->-<--ENKKHGLPGIGLSTSLRPRMQFSSPSFV | 1769 |
RYR3 | KERKLMMKNEYIIPITSTTRNIRLFPD--->-<--ESKRHGLPGVGLRTCLKPGFRFSTPCFV | 1673 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1753I | c.5258C>T | Putative Benign | rs376701953 | SIFT: tolerated Polyphen: benign |