No paralogue variants have been mapped to residue 4011 for RYR2.
RYR2 | MLLSMLEGNVVNGTIGKQMVDMLVESSNNV>E<MILKFFDMFLKLKDLTSSDTFKEYDPDGKG | 4041 |
RYR1 | MLLSLLEGNVVNGMIARQMVDMLVESSSNV>E<MILKFFDMFLKLKDIVGSEAFQDYVTDPRG | 4085 |
RYR3 | MLLSLLEGNVVNGTIGKQMVDTLVESSTNV>E<MILKFFDMFLKLKDLTSSDTFKEYDPDGKG | 3937 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E4011Q | c.12031G>C | Putative Benign | SIFT: Polyphen: |