Paralogue Annotation for RYR1 residue 1729

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1729
Reference Amino Acid: M - Methionine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 1729

No paralogue variants have been mapped to residue 1729 for RYR1.



RYR1DAHLPGPLRAGYYDLLISIHLESACRSRRS>M<LSEYIVPLTPETRAITLFPPGRSTENGHPR1759
RYR2NKYMPGLLRAGYYDLLIDIHLSSYATARLM>M<NNEYIVPMTEETKSITLFPD------ENKK1745
RYR3NKYLPGLLRSGFYDLLISIHLASAKERKLM>M<KNEYIIPITSTTRNIRLFPD------ESKR1649
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M1729Rc.5186T>G Other MyopathySIFT:
Polyphen:
ReportsOther Myopathy Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943