Paralogue Annotation for RYR1 residue 4295

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4295
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4295

No paralogue variants have been mapped to residue 4295 for RYR1.



RYR1AGAAEAGAEGAEEGAAGLEGTAATAAAGAT>A<RVVAAAGRALRGLSYRSLRRRVRRLRRLTA4325
RYR2SEK-----ERPEEQGPRMAFFSILTVRSAL>F<ALRYNILTLMRMLSLKSLKKQMKKVKKMTV4276
RYR3DEDSSYVLEIAGEEEEDGSLEPASAFAMAC>A<SVKRNVTDFLKRATLKNLRKQYRNVKKMTA4177
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4295Vc.12884C>T ConflictSIFT:
Polyphen:
ReportsOther 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.A4295Gc.12884C>G Putative BenignSIFT:
Polyphen: benign