Paralogue Annotation for RYR1 residue 4329

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4329
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4329

No paralogue variants have been mapped to residue 4329 for RYR1.



RYR1AAAGRALRGLSYRSLRRRVRRLRRLTAREA>A<TAVAALLWAAVTRAGAAGAGAAAGALGLLW4359
RYR2YNILTLMRMLSLKSLKKQMKKVKKMTVKDM>V<TAFFSSYWSIFMTLLHFVASVFRGFFRIIC4310
RYR3RNVTDFLKRATLKNLRKQYRNVKKMTAKEL>V<KVLFSFFWMLFVGLFQLLFTILGGIFQILW4211
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4329Dc.12986C>A Other Myopathyrs118192129SIFT:
Polyphen:
ReportsOther Myopathy Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies. Brain. 2007 130(Pt 8):2024-36. 17483490
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146