Paralogue Annotation for RYR2 residue 3207

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3207
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3207

No paralogue variants have been mapped to residue 3207 for RYR2.

RYR2	KHNIYSIYNTKSSRERAALSLPTNVEDVCP>N<IPSLEKLMEEIVELAESGIRYTQMPHVMEV	3237
RYR1	EYNACSVYTTKSPRERAILGLPNSVEEMCP>D<IPVLERLMADIGGLAESGARYTEMPHVIEI	3272
RYR3	RYNPLSVFNTKTPRERSILGMPDTVEDMCP>D<IPQLEGLMKEINDLAESGARYTEMPHVIEV	3133
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3207D	c.9619A>G	Putative Benign		rs372601642	SIFT: tolerated Polyphen: benign