No paralogue variants have been mapped to residue 3081 for RYR1.
RYR1 | RHRVSLFGTDAPAVVNCLHILARSLDARTV>M<KSGPEIVKAGLRSFFESASEDIEKMVENLR | 3111 |
RYR2 | RHRISLFGNDATSIVNCLHILGQTLDARTV>M<KTGLESVKSALRAFLDNAAEDLEKTMENLK | 3076 |
RYR3 | RHRISLFGSDSTTMVSCLHILAQTLDTRTV>M<KSGSELVKAGLRAFFENAAEDLEKTSENLK | 2972 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M3081T | c.9242T>C | Conflict | rs147012990 | SIFT: Polyphen: | |
Reports | Other Myopathy | RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol. 2010 68(5):717-26. 20839240 | |||
Other Myopathy | Using exome data to identify malignant hyperthermia susceptibility mutations. Anesthesiology. 2013 119(5):1043-53. doi: 10.1097/ALN.0b013e3182a8a8e7. 24195946 | ||||
Other Myopathy | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395 | ||||
p.M3081V | c.9241A>G | Putative Benign | rs375292503 | SIFT: tolerated Polyphen: benign | |
p.M3081I | c.9243G>A | Putative Benign | SIFT: Polyphen: |