Paralogue Annotation for RYR2 residue 379

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 379
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 379

No paralogue variants have been mapped to residue 379 for RYR2.

RYR2	MGTSEIKYGDSVCYIQHVDTGLWLTYQSVD>V<KSVRMGSIQRKAIMHHEGHMDDGISLSRSQ	409
RYR1	MGPPEIKYGESLCFVQHVASGLWLTYAAPD>P<KALRLGVLKKKAMLHQEGHMDDALSLTRCQ	393
RYR3	MGVPEIKYGDSVCFVQHIASGLWVTYKAQD>A<KTSRLGPLKRKVILHQEGHMDDGLTLQRCQ	401
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V379M	c.1135G>A	Putative Benign		rs199693714	SIFT: deleterious Polyphen: possibly damaging
p.V379L	c.1135G>T	Putative Benign			SIFT: Polyphen: