No paralogue variants have been mapped to residue 4097 for RYR1.
RYR1 | LKDIVGSEAFQDYVTDPRGLISKKDFQKAM>D<SQKQFSGPEIQFLLSCSEADENEMINCEEF | 4127 |
RYR2 | LKDLTSSDTFKEYDPDGKGVISKRDFHKAM>E<SHKHYTQSETEFLLSCAETDENETLDYEEF | 4083 |
RYR3 | LKDLTSSDTFKEYDPDGKGIISKKEFQKAM>E<GQKQYTQSEIDFLLSCAEADENDMFNYVDF | 3979 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.D4097E | c.12291C>A | Putative Benign | SIFT: Polyphen: |