No paralogue variants have been mapped to residue 4160 for RYR1.
RYR1 | RFQEPARDIGFNVAVLLTNLSEHVPHDPRL>H<NFLELAESILEYFRPYLGRIEIMGASRRIE | 4190 |
RYR2 | RFHEPAKDIGFNVAVLLTNLSEHMPNDTRL>Q<TFLELAESVLNYFQPFLGRIEIMGSAKRIE | 4146 |
RYR3 | RFHEPAKDIGFNVAVLLTNLSEHMPNDSRL>K<CLLDPAESVLNYFEPYLGRIEIMGGAKKIE | 4042 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.H4160L | c.12479A>T | Putative Benign | SIFT: Polyphen: |