Paralogue Annotation for RYR2 residue 364

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 364
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 364

No paralogue variants have been mapped to residue 364 for RYR2.

RYR2	SKEKLDVGVRKEVDGMGTSEIKYGDSVCYI>Q<HVDTGLWLTYQSVDVKSVRMGSIQRKAIMH	394
RYR1	SKEKLDVAPKRDVEGMGPPEIKYGESLCFV>Q<HVASGLWLTYAAPDPKALRLGVLKKKAMLH	378
RYR3	LKEKLDSSHKRDIEGMGVPEIKYGDSVCFV>Q<HIASGLWVTYKAQDAKTSRLGPLKRKVILH	386
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q364H	c.1092A>C	Putative Benign			SIFT: Polyphen: