Paralogue Annotation for RYR2 residue 670

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 670
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 670

No paralogue variants have been mapped to residue 670 for RYR2.

RYR2	RDLLLQTRLVNHVSSMRPNIFLGVSEGSAQ>Y<KKWYYELMVDHTEPFVTAEATHLRVGWAST	700
RYR1	RELLLQTNLINYVTSIRPNIFVGRAEGTTQ>Y<SKWYFEVMVDEVTPFLTAQATHLRVGWALT	688
RYR3	RNLLLQTRLINDVTSIRPNIFLGVAEGSAQ>Y<KKWYFELIIDQVDPFLTAEPTHLRVGWASS	687
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y670C	c.2009A>G	Putative Benign			SIFT: deleterious Polyphen: probably damaging