Paralogue Annotation for RYR1 residue 3193

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3193
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3193

No paralogue variants have been mapped to residue 3193 for RYR1.



RYR1VSCYRTLCSIYSLGTTKNTYVEKLRPALGE>C<LARLAAAMPVAFLEPQLNEYNACSVYTTKS3223
RYR2VSCYRILTSLYALGTSKSIYVERQRSALGE>C<LAAFAGAFPVAFLETHLDKHNIYSIYNTKS3188
RYR3ISCYHILCSLYSLGTGKNIYVERQRPALGE>C<LASLAAAIPVAFLEPTLNRYNPLSVFNTKT3084
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C3193Wc.9579C>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