Paralogue Annotation for RYR1 residue 4846

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4846
Reference Amino Acid: A - Alanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4846

No paralogue variants have been mapped to residue 4846 for RYR1.



RYR1DIAMGVKTLRTILSSVTHNGKQLVMTVGLL>A<VVVYLYTVVAFNFFRKFYNKSEDEDEPDMK4876
RYR2DIAMGFKTLRTILSSVTHNGKQLVLTVGLL>A<VVVYLYTVVAFNFFRKFYNKSEDGDTPDMK4805
RYR3DIAMGFKTLRTILSSVTHNGKQLVLTVGLL>A<VVVYLYTVVAFNFFRKFYNKSEDDDEPDMK4708
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A4846Vc.14537C>T Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1. Clin Genet. 2007 71(1):93-4. 17204054
Unknown Clinical utility gene card for: Multi-minicore disease. Eur J Hum Genet. 2012 20(2). doi: 10.1038/ejhg.2011.180. 22009146
p.A4846Gc.14537C>G Putative BenignSIFT:
Polyphen: