Paralogue Annotation for RYR2 residue 3179

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3179
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3179

No paralogue variants have been mapped to residue 3179 for RYR2.

RYR2	ERQRSALGECLAAFAGAFPVAFLETHLDKH>N<IYSIYNTKSSRERAALSLPTNVEDVCPNIP	3209
RYR1	EKLRPALGECLARLAAAMPVAFLEPQLNEY>N<ACSVYTTKSPRERAILGLPNSVEEMCPDIP	3244
RYR3	ERQRPALGECLASLAAAIPVAFLEPTLNRY>N<PLSVFNTKTPRERSILGMPDTVEDMCPDIP	3105
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3179S	c.9536A>G	Putative Benign			SIFT: Polyphen: