Paralogue Annotation for RYR2 residue 3017

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3017
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3017

No paralogue variants have been mapped to residue 3017 for RYR2.

RYR2	SRPLCSGGHASNKEKEMVTSLFCKLGVLVR>H<RISLFGNDATSIVNCLHILGQTLDARTVMK	3047
RYR1	AKVLGSGGHASNKEKEMITSLFCKLAALVR>H<RVSLFGTDAPAVVNCLHILARSLDARTVMK	3082
RYR3	LKPLSSSGYASHKEKEMVAGLFCKLAALVR>H<RISLFGSDSTTMVSCLHILAQTLDTRTVMK	2943
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H3017R	c.9050A>G	Putative Benign			SIFT: Polyphen: