No paralogue variants have been mapped to residue 1300 for RYR2.
RYR2 | VTRIDGTIDSSPCLKVTQKSFGSQNSNTDI>M<FYRLSMPIECAEVFSKTV-AGGLPGAGLFG | 1329 |
RYR1 | VSRVDGTVDTPPCLRLTHRTWGSQNSLVEM>L<FLRLSLPVQFHQHFRCTAGATPLAPPGLQP | 1316 |
RYR3 | VMRIDGTMDSPPCLKVTHKTFGTQNSNADM>I<YCRLSMPVECHSSFSH-------------- | 1302 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M1300L | c.3898A>C | Putative Benign | SIFT: Polyphen: | ||
p.M1300T | c.3899T>C | Putative Benign | SIFT: Polyphen: | ||
p.M1300I | c.3900G>A | Putative Benign | SIFT: Polyphen: |