Paralogue Annotation for RYR2 residue 4039

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4039
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4039

No paralogue variants have been mapped to residue 4039 for RYR2.

RYR2	NVEMILKFFDMFLKLKDLTSSDTFKEYDPD>G<KGVISKRDFHKAMESHKHYTQSETEFLLSC	4069
RYR1	NVEMILKFFDMFLKLKDIVGSEAFQDYVTD>P<RGLISKKDFQKAMDSQKQFSGPEIQFLLSC	4113
RYR3	NVEMILKFFDMFLKLKDLTSSDTFKEYDPD>G<KGIISKKEFQKAMEGQKQYTQSEIDFLLSC	3965
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4039V	c.12116G>T	Putative Benign			SIFT: Polyphen: