Paralogue Annotation for RYR1 residue 3402

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3402
Reference Amino Acid: C - Cysteine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3402

No paralogue variants have been mapped to residue 3402 for RYR1.



RYR1VVSEEEQLRLEAKAEAQEGELLVRDEFSVL>C<RDLYALYPLLIRYVDNNRAQWLTEPNPSAE3432
RYR2VVSEEDHLKAEARGDMSEAELLILDEFTTL>A<RDLYAFYPLLIRFVDYNRAKWLKEPNPEAE3393
RYR3TVQEEEQLKADGKGDTQEAELLILDEFAVL>C<RDLYAFYPMLIRYVDNNRSNWLKSPDADSD3289
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.C3402Gc.10204T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion. Hum Mutat. 2010 31(7):E1544-50. 20583297
Unknown 20301436
p.C3402Fc.10205G>T Putative BenignSIFT:
Polyphen: