No paralogue variants have been mapped to residue 4230 for RYR1.
RYR1 | NRAQWEMPQVKESKRQFIFDVVNEGGEAEK>M<ELFVSFCEDTIFEMQIAAQISEPEGEPETD | 4260 |
RYR2 | SRTQWEKPQVKESKRQFIFDVVNEGGEKEK>M<ELFVNFCEDTIFEMQLAAQISESDLNERSA | 4216 |
RYR3 | SRTQWEKPQVKESKRQFIFDVVNEGGEQEK>M<ELFVNFCEDTIFEMQLASQISESDSADRPE | 4112 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M4230V | c.12688A>G | Putative Benign | SIFT: Polyphen: | ||
p.M4230R | c.12689T>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Next-generation Sequencing of RYR1 and CACNA1S in Malignant Hyperthermia and Exertional Heat Illness. Anesthesiology. 2015 122(5):1033-46. doi: 10.1097/ALN.0000000000000610. 25658027 |