No paralogue variants have been mapped to residue 2487 for RYR1.
RYR1 | LRSLVPLEDLVGIISLPLQIPTLGKDGALV>Q<PKMSASFVPDHKASMVLFLDRVYGIENQDF | 2517 |
RYR2 | LRSLIPLGDLVGVISIAFQMPTIAKDGNVV>E<PDMSAGFCPDHKAAMVLFLDRVYGIEVQDF | 2483 |
RYR3 | LRSLVPTEDLVGIISIPLKLPSLNKDGSVS>E<PDMAANFCPDHKAPMVLFLDRVYGIKDQTF | 2380 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q2487K | c.7459C>A | Putative Benign | SIFT: Polyphen: | ||
p.Q2487H | c.7461G>T | Putative Benign | SIFT: Polyphen: |