Paralogue Annotation for RYR2 residue 1004

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1004
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1004

No paralogue variants have been mapped to residue 1004 for RYR2.

RYR2	SGYKPAPMDLSFIKLTPSQEAMVDKLAENA>H<NVWARDRIRQGWTYGIQQDVKNRRNPRLVP	1034
RYR1	NGYKPAPLDLSHVRLTPAQTTLVDRLAENG>H<NVWARDRVGQGWSYSAVQDIPARRNPRLVP	1022
RYR3	NGYKPAPLDLSDVKLLPPQEILVDKLAENA>H<NVWAKDRIKQGWTYGIQQDLKNKRNPRLVP	1021
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1004P	c.3011A>C	Putative Benign			SIFT: Polyphen: