Paralogue Annotation for RYR2 residue 2675

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2675
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2675

No paralogue variants have been mapped to residue 2675 for RYR2.

RYR2	FWGIFDALSQKKYEQELFKLALPCLSAVAG>A<LPPDYMESNYVSMMEKQSSMDSEGNFNPQP	2705
RYR1	FWGIFDSLAHKKYDPELYRMAMPCLCAIAG>A<LPPDYVDASYSSKAEKKATVDAEGNFDPRP	2739
RYR3	FWGIFDSLSHKKYDPDLFRMALPCLSAIAG>A<LPPDYLDTRITATLEKQISVDADGNFDPKP	2602
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2675G	c.8024C>G	Putative Benign		rs373767708	SIFT: deleterious Polyphen: probably damaging