Paralogue Annotation for RYR2 residue 4000

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4000
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4000

No paralogue variants have been mapped to residue 4000 for RYR2.

RYR2	ELMDLQKDMVVMLLSMLEGNVVNGTIGKQM>V<DMLVESSNNVEMILKFFDMFLKLKDLTSSD	4030
RYR1	ELLDLQKDMVVMLLSLLEGNVVNGMIARQM>V<DMLVESSSNVEMILKFFDMFLKLKDIVGSE	4074
RYR3	ELLDLLQDMVVMLLSLLEGNVVNGTIGKQM>V<DTLVESSTNVEMILKFFDMFLKLKDLTSSD	3926
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V4000M	c.11998G>A	Putative Benign			SIFT: Polyphen: