No paralogue variants have been mapped to residue 3598 for RYR1.
RYR1 | GREEDADDPEKIVRRV-------------Q>E<VSAVLYYLDQTEHPYKSKKAVWHKLLSKQR | 3628 |
RYR2 | NRTDDTSDPEKTVERVLDIANVLFHLEQKS>K<RVGRRHYCL-VEHPQRSKKAVWHKLLSKQR | 3595 |
RYR3 | K-SEEPFNPEKTVERV-------------Q>R<ISAAVFHLEQVEQPLRSKKAVWHKLLSKQR | 3483 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E3598V | c.10793A>T | Putative Benign | rs139834926 | SIFT: Polyphen: benign |