No paralogue variants have been mapped to residue 2494 for RYR1.
RYR1 | EDLVGIISLPLQIPTLGKDGALVQPKMSAS>F<VPDHKASMVLFLDRVYGIENQDFLLHVLDV | 2524 |
RYR2 | GDLVGVISIAFQMPTIAKDGNVVEPDMSAG>F<CPDHKAAMVLFLDRVYGIEVQDFLLHLLEV | 2490 |
RYR3 | EDLVGIISIPLKLPSLNKDGSVSEPDMAAN>F<CPDHKAPMVLFLDRVYGIKDQTFLLHLLEV | 2387 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F2494I | c.7480T>A | Putative Benign | SIFT: Polyphen: | ||
p.F2494L | c.7482C>G | Putative Benign | SIFT: Polyphen: |