Paralogue Annotation for RYR1 residue 3253

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3253
Reference Amino Acid: I - Isoleucine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3253

No paralogue variants have been mapped to residue 3253 for RYR1.



RYR1SPRERAILGLPNSVEEMCPDIPVLERLMAD>I<GGLAESGARYTEMPHVIEITLPMLCSYLPR3283
RYR2SSRERAALSLPTNVEDVCPNIPSLEKLMEE>I<VELAESGIRYTQMPHVMEVILPMLCSYMSR3248
RYR3TPRERSILGMPDTVEDMCPDIPQLEGLMKE>I<NDLAESGARYTEMPHVIEVILPMLCNYLSY3144
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I3253Tc.9758T>C Other MyopathySIFT: deleterious
Polyphen: benign
ReportsOther Myopathy An integrated diagnosis strategy for congenital myopathies. PLoS One. 2013 8(6):e67527. doi: 10.1371/journal.pone.0067527. Pr 23826317
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381