No paralogue variants have been mapped to residue 4762 for RYR1.
RYR1 | YGRERIAELLGMDLATLEITAHNER-KPNP>P<PGLLTWLMSIDVKYQIWKFGVIFTDNSFLY | 4792 |
RYR2 | YGRDRISELLGMDKAALDFSDAREKKKPKK>D<SSLSAVLNSIDVKYQMWKLGVVFTDNSFLY | 4721 |
RYR3 | YGAERIAELLGLDKNALDFSPVEET-KA-E>A<ASLVSWLSSIDMKYHIWKLGVVFTDNSFLY | 4624 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P4762L | c.14285C>T | Putative Benign | rs146793368 | SIFT: Polyphen: | |
p.P4762A | c.14284C>G | Putative Benign | SIFT: Polyphen: |