Paralogue Annotation for RYR1 residue 2353

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2353
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2353

No paralogue variants have been mapped to residue 2353 for RYR1.

RYR1	WNPCGGERYLDFLRFAVFVNGESVEENANV>V<VRLLIRKPECFGPALRGEGGSGLLAAIEEA	2383
RYR2	WNPVEGERYLDFLRFAVFCNGESVEENANV>V<VRLLIRRPECFGPALRGEGGNGLLAAMEEA	2350
RYR3	WNPIEGERYLSFLRFAVFVNSESVEENASV>V<VKLLIRRPECFGPALRGEGGNGLLAAMQGA	2247
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2353M	c.7057G>A	Putative Benign			SIFT: Polyphen: