Paralogue Annotation for RYR2 residue 3216

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3216
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3216

No paralogue variants have been mapped to residue 3216 for RYR2.

RYR2	TKSSRERAALSLPTNVEDVCPNIPSLEKLM>E<EIVELAESGIRYTQMPHVMEVILPMLCSYM	3246
RYR1	TKSPRERAILGLPNSVEEMCPDIPVLERLM>A<DIGGLAESGARYTEMPHVIEITLPMLCSYL	3281
RYR3	TKTPRERSILGMPDTVEDMCPDIPQLEGLM>K<EINDLAESGARYTEMPHVIEVILPMLCNYL	3142
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3216K	c.9646G>A	Putative Benign			SIFT: Polyphen: