Paralogue Annotation for RYR2 residue 378

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 378
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 378

No paralogue variants have been mapped to residue 378 for RYR2.

RYR2	GMGTSEIKYGDSVCYIQHVDTGLWLTYQSV>D<VKSVRMGSIQRKAIMHHEGHMDDGISLSRS	408
RYR1	GMGPPEIKYGESLCFVQHVASGLWLTYAAP>D<PKALRLGVLKKKAMLHQEGHMDDALSLTRC	392
RYR3	GMGVPEIKYGDSVCFVQHIASGLWVTYKAQ>D<AKTSRLGPLKRKVILHQEGHMDDGLTLQRC	400
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D378A	c.1133A>C	Putative Benign			SIFT: Polyphen: