Paralogue Annotation for RYR1 residue 2346

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2346
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2346

No paralogue variants have been mapped to residue 2346 for RYR1.

RYR1	KGYPDIGWNPCGGERYLDFLRFAVFVNGES>V<EENANVVVRLLIRKPECFGPALRGEGGSGL	2376
RYR2	KGYPDIGWNPVEGERYLDFLRFAVFCNGES>V<EENANVVVRLLIRRPECFGPALRGEGGNGL	2343
RYR3	KGYPDVGWNPIEGERYLSFLRFAVFVNSES>V<EENASVVVKLLIRRPECFGPALRGEGGNGL	2240
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2346M	c.7036G>A	Other Myopathy		rs193922799	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