Paralogue Annotation for RYR2 residue 3343

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3343
Reference Amino Acid: E - Glutamate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3343

No paralogue variants have been mapped to residue 3343 for RYR2.

RYR2	QLLKTHFLPLMEKLKKKAATVVSEEDHLKA>E<ARGDMSEAELLILDEFTTLARDLYAFYPLL	3373
RYR1	ELLQSHFIPTIGRLRKRAGKVVSEEEQLRL>E<AKAEAQEGELLVRDEFSVLCRDLYALYPLL	3412
RYR3	DLLRSHFIPTLEKLKKKAVKTVQEEEQLKA>D<GKGDTQEAELLILDEFAVLCRDLYAFYPML	3269
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E3343Q	c.10027G>C	Putative Benign			SIFT: Polyphen: