Paralogue Annotation for RYR1 residue 3903

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3903
Reference Amino Acid: R - Arginine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 3903

No paralogue variants have been mapped to residue 3903 for RYR1.



RYR1VMADDEFTQDLFRFLQLLCEGHNNDFQNYL>R<TQTGNTTTINIIICTVDYLLRLQESISDFY3933
RYR2VLQDDEFTCDLFRFLQLLCEGHNSDFQNYL>R<TQTGNNTTVNIIISTVDYLLRVQESISDFY3889
RYR3VLQNDEFTRDLFRFLQLLCEGHNSDFQNFL>R<TQMGNTTTVNVIISTVDYLLRLQESISDFY3785
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R3903Qc.11708G>A Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia. Hum Mutat. 2006 27(8):830. 16835904