No paralogue variants have been mapped to residue 1299 for RYR2.
RYR2 | EVTRIDGTIDSSPCLKVTQKSFGSQNSNTD>I<MFYRLSMPIECAEVFSKTV-AGGLPGAGLF | 1328 |
RYR1 | EVSRVDGTVDTPPCLRLTHRTWGSQNSLVE>M<LFLRLSLPVQFHQHFRCTAGATPLAPPGLQ | 1315 |
RYR3 | EVMRIDGTMDSPPCLKVTHKTFGTQNSNAD>M<IYCRLSMPVECHSSFSH------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1299T | c.3896T>C | Putative Benign | SIFT: Polyphen: | ||
p.I1299S | c.3896T>G | Putative Benign | SIFT: Polyphen: | ||
p.I1299M | c.3897C>G | Putative Benign | SIFT: Polyphen: |