Paralogue Annotation for RYR2 residue 2703

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2703
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2703

No paralogue variants have been mapped to residue 2703 for RYR2.

RYR2	AGALPPDYMESNYVSMMEKQSSMDSEGNFN>P<QPVDTSNITIPEKLEYFINKYAEHSHDKWS	2733
RYR1	AGALPPDYVDASYSSKAEKKATVDAEGNFD>P<RPVETLNVIIPEKLDSFINKFAEYTHEKWA	2767
RYR3	AGALPPDYLDTRITATLEKQISVDADGNFD>P<KPINTMNFSLPEKLEYIVTKYAEHSHDKWA	2630
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2703T	c.8107C>A	Putative Benign			SIFT: Polyphen: