No paralogue variants have been mapped to residue 2371 for RYR1.
RYR1 | VNGESVEENANVVVRLLIRKPECFGPALRG>E<GGSGLLAAIEEAIRISEDPARDGPGIRRDR | 2401 |
RYR2 | CNGESVEENANVVVRLLIRRPECFGPALRG>E<GGNGLLAAMEEAIKIAEDPSRDGPSPNS-G | 2367 |
RYR3 | VNSESVEENASVVVKLLIRRPECFGPALRG>E<GGNGLLAAMQGAIKISENPALDLPSQGY-K | 2264 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E2371G | c.7112A>G | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Hum Mutat. 2009 30(4):E575-90. 19191333 |