No paralogue variants have been mapped to residue 2676 for RYR1.
RYR1 | NHYERCWKYYCLPTGWANFGVTSEEELHLT>R<KLFWGIFDSLAHKKYDPELYRMAMPCLCAI | 2706 |
RYR2 | NHYERCWKYYCLPGGWGNFGAASEEELHLS>R<KLFWGIFDALSQKKYEQELFKLALPCLSAV | 2672 |
RYR3 | NHYEQCWKYYCLPSGWGSYGLAVEEELHLT>E<KLFWGIFDSLSHKKYDPDLFRMALPCLSAI | 2569 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R2676W | c.8026C>T | Other Myopathy | rs193922826 | SIFT: Polyphen: | |
Reports | Other Myopathy | Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization. Arch Neurol. 2004 61(1):106-13. 14732627 | |||
p.R2676Q | c.8027G>A | Putative Benign | SIFT: Polyphen: |