No paralogue variants have been mapped to residue 4782 for RYR1.
RYR1 | AHNER-KPNPPPGLLTWLMSIDVKYQIWKF>G<VIFTDNSFLYLGWYMVMSLLGHYNNFFFAA | 4812 |
RYR2 | DAREKKKPKKDSSLSAVLNSIDVKYQMWKL>G<VVFTDNSFLYLAWYMTMSVLGHYNNFFFAA | 4741 |
RYR3 | PVEET-KA-EAASLVSWLSSIDMKYHIWKL>G<VVFTDNSFLYLAWYTTMSVLGHYNNFFFAA | 4644 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G4782R | c.14344G>A | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. Prenat Diagn. 2015 35(10):1022-9. doi: 10.1002/pd.4674. 26275793 | |||
p.G4782V | c.14345G>T | Putative Benign | SIFT: Polyphen: |