Paralogue Annotation for RYR2 residue 2743

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2743
Reference Amino Acid: Y - Tyrosine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2743

No paralogue variants have been mapped to residue 2743 for RYR2.

RYR2	IPEKLEYFINKYAEHSHDKWSMDKLANGWI>Y<GEIYSDSSKVQPLMKPYKLLSEKEKEIYRW	2773
RYR1	IPEKLDSFINKFAEYTHEKWAFDKIQNNWS>Y<GENIDEELKTHPMLRPYKTFSEKDKEIYRW	2807
RYR3	LPEKLEYIVTKYAEHSHDKWACDKSQSGWK>Y<GISLDENVKTHPLIRPFKTLTEKEKEIYRW	2670
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y2743C	c.8228A>G	Putative Benign		rs368952500	SIFT: deleterious Polyphen: probably damaging