No paralogue variants have been mapped to residue 4154 for RYR1.
RYR1 | CEEFANRFQEPARDIGFNVAVLLTNLSEHV>P<HDPRLHNFLELAESILEYFRPYLGRIEIMG | 4184 |
RYR2 | YEEFVKRFHEPAKDIGFNVAVLLTNLSEHM>P<NDTRLQTFLELAESVLNYFQPFLGRIEIMG | 4140 |
RYR3 | YVDFVDRFHEPAKDIGFNVAVLLTNLSEHM>P<NDSRLKCLLDPAESVLNYFEPYLGRIEIMG | 4036 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4154L | c.12461C>T | Putative Benign | SIFT: Polyphen: |