Paralogue Annotation for RYR2 residue 3321

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3321
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3321

No paralogue variants have been mapped to residue 3321 for RYR2.

RYR2	DEGAWMKRLAVFSQPIINKVKPQLLKTHFL>P<LMEKLKKKAATVVSEEDHLKAEARGDMSEA	3351
RYR1	DEASWMKRLAVFAQPIVSRARPELLQSHFI>P<TIGRLRKRAGKVVSEEEQLRLEAKAEAQEG	3390
RYR3	DEASWMKRIAVYAQPIISKARPDLLRSHFI>P<TLEKLKKKAVKTVQEEEQLKADGKGDTQEA	3247
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P3321L	c.9962C>T	Putative Benign			SIFT: Polyphen: