No paralogue variants have been mapped to residue 4295 for RYR1.
RYR1 | AGAAEAGAEGAEEGAAGLEGTAATAAAGAT>A<RVVAAAGRALRGLSYRSLRRRVRRLRRLTA | 4325 |
RYR2 | SEK-----ERPEEQGPRMAFFSILTVRSAL>F<ALRYNILTLMRMLSLKSLKKQMKKVKKMTV | 4276 |
RYR3 | DEDSSYVLEIAGEEEEDGSLEPASAFAMAC>A<SVKRNVTDFLKRATLKNLRKQYRNVKKMTA | 4177 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A4295V | c.12884C>T | Conflict | rs193922855 | SIFT: Polyphen: | |
Reports | Other Myopathy | A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy. J Clin Neurol. 2008 4(3):123-30. 19513315 | |||
Other Myopathy | Genetic analysis of the rhabdomyolysis-associated genes in forensic autopsy cases of methamphetamine abusers. Leg Med (Tokyo). 2011 13(1):7-11. doi: 10.1016/j.legalmed.2010.08.007. 20952238 | ||||
Other Disease Phenotype | 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 | ||||
p.A4295G | c.12884C>G | Putative Benign | SIFT: Polyphen: benign |