Paralogue Annotation for RYR2 residue 1022

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1022
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1022

No paralogue variants have been mapped to residue 1022 for RYR2.

RYR2	QEAMVDKLAENAHNVWARDRIRQGWTYGIQ>Q<DVKNRRNPRLVPYTLLDDRTKKSNKDSLRE	1052
RYR1	QTTLVDRLAENGHNVWARDRVGQGWSYSAV>Q<DIPARRNPRLVPYRLLDEATKRSNRDSLCQ	1040
RYR3	QEILVDKLAENAHNVWAKDRIKQGWTYGIQ>Q<DLKNKRNPRLVPYALLDERTKKSNRDSLRE	1039
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q1022R	c.3065A>G	Putative Benign			SIFT: Polyphen: