No paralogue variants have been mapped to residue 4054 for RYR1.
RYR1 | VMLLSLLEGNVVNGMIARQMVDMLVESSSN>V<EMILKFFDMFLKLKDIVGSEAFQDYVTDPR | 4084 |
RYR2 | VMLLSMLEGNVVNGTIGKQMVDMLVESSNN>V<EMILKFFDMFLKLKDLTSSDTFKEYDPDGK | 4040 |
RYR3 | VMLLSLLEGNVVNGTIGKQMVDTLVESSTN>V<EMILKFFDMFLKLKDLTSSDTFKEYDPDGK | 3936 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V4054M | c.12160G>A | Putative Benign | SIFT: Polyphen: | ||
p.V4054L | c.12160G>T | Putative Benign | SIFT: Polyphen: | ||
p.V4054G | c.12161T>G | Putative Benign | SIFT: Polyphen: |