No paralogue variants have been mapped to residue 3757 for RYR1.
RYR1 | DIMAKSCHLEEGGENGEAEEEVEVSFEEKQ>M<EKQRLLYQQARLHTRGAAEMVLQMISACKG | 3787 |
RYR2 | DIMAKSCHDEED-D--DGEEE-VKSFEEKE>M<EKQKLLYQQARLHDRGAAEMVLQTISASKG | 3749 |
RYR3 | SMMAKSCQSGED-E--EEDEDKEKTFEEKE>M<EKQKTLYQQARLHERGAAEMVLQMISASKG | 3639 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M3757V | c.11269A>G | Putative Benign | rs189249768 | SIFT: Polyphen: benign |