No paralogue variants have been mapped to residue 1583 for RYR1.
RYR1 | VLPTHQNVIQFELGKQKNIMPLSAAMFQSE>R<KNPAPQCPPRLEMQMLMPVSWSRMPNHFLQ | 1613 |
RYR2 | AQATSPNVFQFELGRIKNVMPLSAGLFKSE>H<KNPVPQCPPRLHVQFLSHVLWSRMPNQFLK | 1605 |
RYR3 | LQPTSTSLFQFELGKLKNAMPLSAAIFRSE>E<KNPVPQCPPRLDVQTIQPVLWSRMPNSFLK | 1509 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R1583C | c.4747C>T | Other Myopathy | SIFT: Polyphen: | ||
Reports | Other Myopathy | Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia. Br J Anaesth. 2013 110(1):122-7. doi: 10.1093/bja/aes341. 23035052 | |||
Other Myopathy | Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases. Br J Anaesth. 2009 102(5):642-9. 19346234 | ||||
p.R1583H | c.4748G>A | Putative Benign | SIFT: Polyphen: |