Paralogue Annotation for RYR2 residue 2692

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2692
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2692

No paralogue variants have been mapped to residue 2692 for RYR2.

RYR2	FKLALPCLSAVAGALPPDYMESNYVSMMEK>Q<SSMDSEGNFNPQPVDTSNITIPEKLEYFIN	2722
RYR1	YRMAMPCLCAIAGALPPDYVDASYSSKAEK>K<ATVDAEGNFDPRPVETLNVIIPEKLDSFIN	2756
RYR3	FRMALPCLSAIAGALPPDYLDTRITATLEK>Q<ISVDADGNFDPKPINTMNFSLPEKLEYIVT	2619
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q2692R	c.8075A>G	Putative Benign		rs370072276	SIFT: tolerated Polyphen: benign