Paralogue Annotation for RYR2 residue 3988

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3988
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3988

No paralogue variants have been mapped to residue 3988 for RYR2.

RYR2	LSQDSSQIELLKELMDLQKDMVVMLLSMLE>G<NVVNGTIGKQMVDMLVESSNNVEMILKFFD	4018
RYR1	LAQDSSQIELLKELLDLQKDMVVMLLSLLE>G<NVVNGMIARQMVDMLVESSSNVEMILKFFD	4062
RYR3	LSQDSSQIELLKELLDLLQDMVVMLLSLLE>G<NVVNGTIGKQMVDTLVESSTNVEMILKFFD	3914
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G3988S	c.11962G>A	Putative Benign			SIFT: deleterious Polyphen: probably damaging