No paralogue variants have been mapped to residue 4123 for RYR2.
RYR2 | DIGFNVAVLLTNLSEHMPNDTRLQTFLELA>E<SVLNYFQPFLGRIEIMGSAKRIERVYFEIS | 4153 |
RYR1 | DIGFNVAVLLTNLSEHVPHDPRLHNFLELA>E<SILEYFRPYLGRIEIMGASRRIERIYFEIS | 4197 |
RYR3 | DIGFNVAVLLTNLSEHMPNDSRLKCLLDPA>E<SVLNYFEPYLGRIEIMGGAKKIERVYFEIS | 4049 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4123D | c.12369G>C | Putative Benign | SIFT: Polyphen: |