Paralogue Annotation for RYR2 residue 3192

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3192
Reference Amino Acid: R - Arginine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3192

No paralogue variants have been mapped to residue 3192 for RYR2.

RYR2	FAGAFPVAFLETHLDKHNIYSIYNTKSSRE>R<AALSLPTNVEDVCPNIPSLEKLMEEIVELA	3222
RYR1	LAAAMPVAFLEPQLNEYNACSVYTTKSPRE>R<AILGLPNSVEEMCPDIPVLERLMADIGGLA	3257
RYR3	LAAAIPVAFLEPTLNRYNPLSVFNTKTPRE>R<SILGMPDTVEDMCPDIPQLEGLMKEINDLA	3118
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R3192I	c.9575G>T	Putative Benign			SIFT: Polyphen: