No paralogue variants have been mapped to residue 2480 for RYR1.
RYR1 | ALRIRAILRSLVPLEDLVGIISLPLQIPTL>G<KDGALVQPKMSASFVPDHKASMVLFLDRVY | 2510 |
RYR2 | AIRIRSILRSLIPLGDLVGVISIAFQMPTI>A<KDGNVVEPDMSAGFCPDHKAAMVLFLDRVY | 2476 |
RYR3 | AIRIRSILRSLVPTEDLVGIISIPLKLPSL>N<KDGSVSEPDMAANFCPDHKAPMVLFLDRVY | 2373 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G2480S | c.7438G>A | Putative Benign | SIFT: Polyphen: |