No paralogue variants have been mapped to residue 3414 for RYR1.
RYR1 | KAEAQEGELLVRDEFSVLCRDLYALYPLLI>R<YVDNNRAQWLTEPNPSAEELFRMVGEIFIY | 3444 |
RYR2 | RGDMSEAELLILDEFTTLARDLYAFYPLLI>R<FVDYNRAKWLKEPNPEAEELFRMVAEVFIY | 3405 |
RYR3 | KGDTQEAELLILDEFAVLCRDLYAFYPMLI>R<YVDNNRSNWLKSPDADSDQLFRMVAEVFIL | 3301 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R3414C | c.10240C>T | Putative Benign | rs148892609 | SIFT: Polyphen: possibly damaging | |
p.R3414H | c.10241G>A | Putative Benign | rs142618623 | SIFT: Polyphen: benign |