No paralogue variants have been mapped to residue 2458 for RYR2.
RYR2 | PLGDLVGVISIAFQMPTIAKDGNVVEPDMS>A<GFCPDHKAAMVLFLDRVYGIEVQDFLLHLL | 2488 |
RYR1 | PLEDLVGIISLPLQIPTLGKDGALVQPKMS>A<SFVPDHKASMVLFLDRVYGIENQDFLLHVL | 2522 |
RYR3 | PTEDLVGIISIPLKLPSLNKDGSVSEPDMA>A<NFCPDHKAPMVLFLDRVYGIKDQTFLLHLL | 2385 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A2458V | c.7373C>T | Putative Benign | SIFT: Polyphen: |