Paralogue Annotation for RYR2 residue 3992

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3992
Reference Amino Acid: N - Asparagine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3992

No paralogue variants have been mapped to residue 3992 for RYR2.

RYR2	SSQIELLKELMDLQKDMVVMLLSMLEGNVV>N<GTIGKQMVDMLVESSNNVEMILKFFDMFLK	4022
RYR1	SSQIELLKELLDLQKDMVVMLLSLLEGNVV>N<GMIARQMVDMLVESSSNVEMILKFFDMFLK	4066
RYR3	SSQIELLKELLDLLQDMVVMLLSLLEGNVV>N<GTIGKQMVDTLVESSTNVEMILKFFDMFLK	3918
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N3992H	c.11974A>C	Putative Benign			SIFT: Polyphen: