Paralogue Annotation for RYR2 residue 4036

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4036
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4036

No paralogue variants have been mapped to residue 4036 for RYR2.

RYR2	SSNNVEMILKFFDMFLKLKDLTSSDTFKEY>D<PDGKGVISKRDFHKAMESHKHYTQSETEFL	4066
RYR1	SSSNVEMILKFFDMFLKLKDIVGSEAFQDY>V<TDPRGLISKKDFQKAMDSQKQFSGPEIQFL	4110
RYR3	SSTNVEMILKFFDMFLKLKDLTSSDTFKEY>D<PDGKGIISKKEFQKAMEGQKQYTQSEIDFL	3962
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4036N	c.12106G>A	Putative Benign			SIFT: Polyphen: