No paralogue variants have been mapped to residue 3740 for RYR1.
RYR1 | LTEKSKLDEDYLYMAYADIMAKSCHLEEGG>E<NGEAEEEVEVSFEEKQMEKQRLLYQQARLH | 3770 |
RYR2 | LTEKCKLEEDFLYMAYADIMAKSCHDEED->D<--DGEEE-VKSFEEKEMEKQKLLYQQARLH | 3732 |
RYR3 | LTERSKLEDDPLYTSYSSMMAKSCQSGED->E<--EEDEDKEKTFEEKEMEKQKTLYQQARLH | 3622 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3740K | c.11218G>A | Putative Benign | SIFT: Polyphen: |