Paralogue Annotation for RYR2 residue 3176

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3176
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3176

No paralogue variants have been mapped to residue 3176 for RYR2.

RYR2	IYVERQRSALGECLAAFAGAFPVAFLETHL>D<KHNIYSIYNTKSSRERAALSLPTNVEDVCP	3206
RYR1	TYVEKLRPALGECLARLAAAMPVAFLEPQL>N<EYNACSVYTTKSPRERAILGLPNSVEEMCP	3241
RYR3	IYVERQRPALGECLASLAAAIPVAFLEPTL>N<RYNPLSVFNTKTPRERSILGMPDTVEDMCP	3102
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D3176Y	c.9526G>T	Putative Benign			SIFT: Polyphen: