Paralogue Annotation for RYR2 residue 3342

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3342
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3342

No paralogue variants have been mapped to residue 3342 for RYR2.

RYR2	PQLLKTHFLPLMEKLKKKAATVVSEEDHLK>A<EARGDMSEAELLILDEFTTLARDLYAFYPL	3372
RYR1	PELLQSHFIPTIGRLRKRAGKVVSEEEQLR>L<EAKAEAQEGELLVRDEFSVLCRDLYALYPL	3411
RYR3	PDLLRSHFIPTLEKLKKKAVKTVQEEEQLK>A<DGKGDTQEAELLILDEFAVLCRDLYAFYPM	3268
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A3342P	c.10024G>C	Putative Benign			SIFT: Polyphen: