Paralogue Annotation for RYR2 residue 1019

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1019
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1019

No paralogue variants have been mapped to residue 1019 for RYR2.

RYR2	TPSQEAMVDKLAENAHNVWARDRIRQGWTY>G<IQQDVKNRRNPRLVPYTLLDDRTKKSNKDS	1049
RYR1	TPAQTTLVDRLAENGHNVWARDRVGQGWSY>S<AVQDIPARRNPRLVPYRLLDEATKRSNRDS	1037
RYR3	LPPQEILVDKLAENAHNVWAKDRIKQGWTY>G<IQQDLKNKRNPRLVPYALLDERTKKSNRDS	1036
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1019S	c.3055G>A	Putative Benign			SIFT: Polyphen: