No paralogue variants have been mapped to residue 2503 for RYR1.
RYR1 | PLQIPTLGKDGALVQPKMSASFVPDHKASM>V<LFLDRVYGIENQDFLLHVLDVGFLPDMRAA | 2533 |
RYR2 | AFQMPTIAKDGNVVEPDMSAGFCPDHKAAM>V<LFLDRVYGIEVQDFLLHLLEVGFLPDLRAA | 2499 |
RYR3 | PLKLPSLNKDGSVSEPDMAANFCPDHKAPM>V<LFLDRVYGIKDQTFLLHLLEVGFLPDLRAS | 2396 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V2503A | c.7508T>C | Putative Benign | SIFT: Polyphen: |