Paralogue Annotation for RYR1 residue 2348

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2348
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2348

No paralogue variants have been mapped to residue 2348 for RYR1.

RYR1	YPDIGWNPCGGERYLDFLRFAVFVNGESVE>E<NANVVVRLLIRKPECFGPALRGEGGSGLLA	2378
RYR2	YPDIGWNPVEGERYLDFLRFAVFCNGESVE>E<NANVVVRLLIRRPECFGPALRGEGGNGLLA	2345
RYR3	YPDVGWNPIEGERYLSFLRFAVFVNSESVE>E<NASVVVKLLIRRPECFGPALRGEGGNGLLA	2242
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2348G	c.7043A>G	Other Myopathy		rs193922801	SIFT: Polyphen:
Reports		Other Myopathy		RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene. J Med Genet. 2004 41(3):e33. 14985404