Paralogue Annotation for RYR2 residue 446

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 446
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 446

No paralogue variants have been mapped to residue 446 for RYR2.

RYR2	RSTVFLFNRFIRGLDALSKKAKA----STV>D<LPIESVSLSLQDLIGYFHPPDEHLEHEDKQ	476
RYR1	HSTNGLYNQFIKSLDSFSGKPRGSGPPAGT>A<LPIEGVILSLQDLIIYFEPPSEDLQHEEKQ	464
RYR3	RNTTALFSQFVSGN-----NRTA----API>T<LPIEEVLQTLQDLIAYFQPPEEEMRHEDKQ	463
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D446N	c.1336G>A	Putative Benign			SIFT: Polyphen: