No paralogue variants have been mapped to residue 3316 for RYR2.
RYR2 | NNLGIDEGAWMKRLAVFSQPIINKVKPQLL>K<THFLPLMEKLKKKAATVVSEEDHLKAEARG | 3346 |
RYR1 | NNLGIDEASWMKRLAVFAQPIVSRARPELL>Q<SHFIPTIGRLRKRAGKVVSEEEQLRLEAKA | 3385 |
RYR3 | NNLGIDEASWMKRIAVYAQPIISKARPDLL>R<SHFIPTLEKLKKKAVKTVQEEEQLKADGKG | 3242 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.K3316E | c.9946A>G | Putative Benign | SIFT: Polyphen: |