Paralogue Annotation for RYR2 residue 2687

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2687
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2687

No paralogue variants have been mapped to residue 2687 for RYR2.

RYR2	YEQELFKLALPCLSAVAGALPPDYMESNYV>S<MMEKQSSMDSEGNFNPQPVDTSNITIPEKL	2717
RYR1	YDPELYRMAMPCLCAIAGALPPDYVDASYS>S<KAEKKATVDAEGNFDPRPVETLNVIIPEKL	2751
RYR3	YDPDLFRMALPCLSAIAGALPPDYLDTRIT>A<TLEKQISVDADGNFDPKPINTMNFSLPEKL	2614
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2687N	c.8060G>A	Putative Benign		rs202020477	SIFT: tolerated Polyphen: benign