No paralogue variants have been mapped to residue 4057 for RYR1.
RYR1 | LSLLEGNVVNGMIARQMVDMLVESSSNVEM>I<LKFFDMFLKLKDIVGSEAFQDYVTDPRGLI | 4087 |
RYR2 | LSMLEGNVVNGTIGKQMVDMLVESSNNVEM>I<LKFFDMFLKLKDLTSSDTFKEYDPDGKGVI | 4043 |
RYR3 | LSLLEGNVVNGTIGKQMVDTLVESSTNVEM>I<LKFFDMFLKLKDLTSSDTFKEYDPDGKGII | 3939 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I4057F | c.12169A>T | Putative Benign | SIFT: Polyphen: |