Paralogue Annotation for RYR1 residue 4806

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4806
Reference Amino Acid: N - Asparagine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4806

No paralogue variants have been mapped to residue 4806 for RYR1.



RYR1YQIWKFGVIFTDNSFLYLGWYMVMSLLGHY>N<NFFFAAHLLDIAMGVKTLRTILSSVTHNGK4836
RYR2YQMWKLGVVFTDNSFLYLAWYMTMSVLGHY>N<NFFFAAHLLDIAMGFKTLRTILSSVTHNGK4765
RYR3YHIWKLGVVFTDNSFLYLAWYTTMSVLGHY>N<NFFFAAHLLDIAMGFKTLRTILSSVTHNGK4668
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.N4806Dc.14416A>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene-associated myopathies. Hum Mutat. 2012 33(6):981-8. doi: 10.1002/humu.22056. 22473935