Paralogue Annotation for RYR1 residue 4809

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4809
Reference Amino Acid: F - Phenylalanine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4809

No paralogue variants have been mapped to residue 4809 for RYR1.



RYR1WKFGVIFTDNSFLYLGWYMVMSLLGHYNNF>F<FAAHLLDIAMGVKTLRTILSSVTHNGKQLV4839
RYR2WKLGVVFTDNSFLYLAWYMTMSVLGHYNNF>F<FAAHLLDIAMGFKTLRTILSSVTHNGKQLV4768
RYR3WKLGVVFTDNSFLYLAWYTTMSVLGHYNNF>F<FAAHLLDIAMGFKTLRTILSSVTHNGKQLV4671
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F4809Lc.14427C>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. J Med Genet. 2015 52(3):208-16. doi: 10.1136/jmedgenet-2014-102819. 25635128