Paralogue Annotation for RYR2 residue 3214

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3214
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3214

No paralogue variants have been mapped to residue 3214 for RYR2.

RYR2	YNTKSSRERAALSLPTNVEDVCPNIPSLEK>L<MEEIVELAESGIRYTQMPHVMEVILPMLCS	3244
RYR1	YTTKSPRERAILGLPNSVEEMCPDIPVLER>L<MADIGGLAESGARYTEMPHVIEITLPMLCS	3279
RYR3	FNTKTPRERSILGMPDTVEDMCPDIPQLEG>L<MKEINDLAESGARYTEMPHVIEVILPMLCN	3140
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3214H	c.9641T>A	Putative Benign			SIFT: Polyphen: