Paralogue Annotation for RYR1 residue 4816

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4816
Reference Amino Acid: D - Aspartate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4816

No paralogue variants have been mapped to residue 4816 for RYR1.



RYR1TDNSFLYLGWYMVMSLLGHYNNFFFAAHLL>D<IAMGVKTLRTILSSVTHNGKQLVMTVGLLA4846
RYR2TDNSFLYLAWYMTMSVLGHYNNFFFAAHLL>D<IAMGFKTLRTILSSVTHNGKQLVLTVGLLA4775
RYR3TDNSFLYLAWYTTMSVLGHYNNFFFAAHLL>D<IAMGFKTLRTILSSVTHNGKQLVLTVGLLA4678
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.D4816Hc.14446G>C Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013 80(17):1584-9. doi: 10.1212/WNL.0b013e3182900380. 23553484