Paralogue Annotation for RYR2 residue 1017

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1017
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1017

No paralogue variants have been mapped to residue 1017 for RYR2.

RYR2	KLTPSQEAMVDKLAENAHNVWARDRIRQGW>T<YGIQQDVKNRRNPRLVPYTLLDDRTKKSNK	1047
RYR1	RLTPAQTTLVDRLAENGHNVWARDRVGQGW>S<YSAVQDIPARRNPRLVPYRLLDEATKRSNR	1035
RYR3	KLLPPQEILVDKLAENAHNVWAKDRIKQGW>T<YGIQQDLKNKRNPRLVPYALLDERTKKSNR	1034
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Thr1017Ala	c.3049A>G	Unknown			SIFT: Polyphen: