Paralogue Annotation for RYR2 residue 4041

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4041
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4041

No paralogue variants have been mapped to residue 4041 for RYR2.

RYR2	EMILKFFDMFLKLKDLTSSDTFKEYDPDGK>G<VISKRDFHKAMESHKHYTQSETEFLLSCAE	4071
RYR1	EMILKFFDMFLKLKDIVGSEAFQDYVTDPR>G<LISKKDFQKAMDSQKQFSGPEIQFLLSCSE	4115
RYR3	EMILKFFDMFLKLKDLTSSDTFKEYDPDGK>G<IISKKEFQKAMEGQKQYTQSEIDFLLSCAE	3967
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4041R	c.12121G>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977