No paralogue variants have been mapped to residue 1296 for RYR2.
RYR2 | EHIEVTRIDGTIDSSPCLKVTQKSFGSQNS>N<TDIMFYRLSMPIECAEVFSKTV-AGGLPGA | 1325 |
RYR1 | PHYEVSRVDGTVDTPPCLRLTHRTWGSQNS>L<VEMLFLRLSLPVQFHQHFRCTAGATPLAPP | 1312 |
RYR3 | PHIEVMRIDGTMDSPPCLKVTHKTFGTQNS>N<ADMIYCRLSMPVECHSSFSH---------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.N1296D | c.3886A>G | Putative Benign | rs371442957 | SIFT: tolerated Polyphen: benign | |
p.N1296K | c.3888C>A | Putative Benign | SIFT: Polyphen: |