Paralogue Annotation for RYR1 residue 3290

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3290
Reference Amino Acid: E - Glutamate
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3290

No paralogue variants have been mapped to residue 3290 for RYR1.



RYR1GARYTEMPHVIEITLPMLCSYLPRWWERGP>E<APPSALPAGAPPPCTAVTSDHLNSLLGNIL3320
RYR2GIRYTQMPHVMEVILPMLCSYMSRWWEHGP>E<NNPE----RAEMCCTALNSEHMNTLLGNIL3281
RYR3GARYTEMPHVIEVILPMLCNYLSYWWERGP>E<NLPP----STGPCCTKVTSEHLSLILGNIL3177
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E3290Kc.9868G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Increasing the number of diagnostic mutations in malignant hyperthermia. Hum Mutat. 2009 30(4):590-8. 19191329