Paralogue Annotation for RYR1 residue 1577

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1577
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1577

No paralogue variants have been mapped to residue 1577 for RYR1.



RYR1LFPAVFVLPTHQNVIQFELGKQKNIMPLSA>A<MFQSERKNPAPQCPPRLEMQMLMPVSWSRM1607
RYR2LFPAVFAQATSPNVFQFELGRIKNVMPLSA>G<LFKSEHKNPVPQCPPRLHVQFLSHVLWSRM1599
RYR3VFPAVFLQPTSTSLFQFELGKLKNAMPLSA>A<IFRSEEKNPVPQCPPRLDVQTIQPVLWSRM1503
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1577Tc.4729G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Characterization of recessive RYR1 mutations in core myopathies. Hum Mol Genet. 2006 15(18):2791-803. 16940308
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146