No paralogue variants have been mapped to residue 3412 for RYR1.
RYR1 | EAKAEAQEGELLVRDEFSVLCRDLYALYPL>L<IRYVDNNRAQWLTEPNPSAEELFRMVGEIF | 3442 |
RYR2 | EARGDMSEAELLILDEFTTLARDLYAFYPL>L<IRFVDYNRAKWLKEPNPEAEELFRMVAEVF | 3403 |
RYR3 | DGKGDTQEAELLILDEFAVLCRDLYAFYPM>L<IRYVDNNRSNWLKSPDADSDQLFRMVAEVF | 3299 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L3412F | c.10234C>T | Putative Benign | rs146754065 | SIFT: Polyphen: benign |