Paralogue Annotation for RYR1 residue 4294

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4294
Reference Amino Acid: T - Threonine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4294

No paralogue variants have been mapped to residue 4294 for RYR1.



RYR1GAGAAEAGAEGAEEGAAGLEGTAATAAAGA>T<ARVVAAAGRALRGLSYRSLRRRVRRLRRLT4324
RYR2ESEK-----ERPEEQGPRMAFFSILTVRSA>L<FALRYNILTLMRMLSLKSLKKQMKKVKKMT4275
RYR3EDEDSSYVLEIAGEEEEDGSLEPASAFAMA>C<ASVKRNVTDFLKRATLKNLRKQYRNVKKMT4176
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.T4294Mc.12881C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility. Clin Genet. 2009 76(6):564-8. 19807743
p.T4294Ac.12880A>G BenignSIFT:
Polyphen: benign