No paralogue variants have been mapped to residue 4216 for RYR2.
RYR2 | MELFVNFCEDTIFEMQLAAQISESDLNERS>A<NKEESEK-----ERPEEQGPRMAFFSILTV | 4241 |
RYR1 | MELFVSFCEDTIFEMQIAAQISEPEGEPET>D<EDEGAGAAEAGAEGAEEGAAGLEGTAATAA | 4290 |
RYR3 | MELFVNFCEDTIFEMQLASQISESDSADRP>E<EEEEDEDSSYVLEIAGEEEEDGSLEPASAF | 4142 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4216V | c.12647C>T | Putative Benign | rs375950722 | SIFT: tolerated Polyphen: benign |