Paralogue Annotation for RYR2 residue 3316

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3316
Reference Amino Acid: K - Lysine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3316

No paralogue variants have been mapped to residue 3316 for RYR2.

RYR2	NNLGIDEGAWMKRLAVFSQPIINKVKPQLL>K<THFLPLMEKLKKKAATVVSEEDHLKAEARG	3346
RYR1	NNLGIDEASWMKRLAVFAQPIVSRARPELL>Q<SHFIPTIGRLRKRAGKVVSEEEQLRLEAKA	3385
RYR3	NNLGIDEASWMKRIAVYAQPIISKARPDLL>R<SHFIPTLEKLKKKAVKTVQEEEQLKADGKG	3242
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K3316E	c.9946A>G	Putative Benign			SIFT: Polyphen: