Paralogue Annotation for RYR2 residue 1579

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1579
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1579

No paralogue variants have been mapped to residue 1579 for RYR2.

RYR2	SPNVFQFELGRIKNVMPLSAGLFKSEHKNP>V<PQCPPRLHVQFLSHVLWSRMPNQFLKVDVS	1609
RYR1	HQNVIQFELGKQKNIMPLSAAMFQSERKNP>A<PQCPPRLEMQMLMPVSWSRMPNHFLQVETR	1617
RYR3	STSLFQFELGKLKNAMPLSAAIFRSEEKNP>V<PQCPPRLDVQTIQPVLWSRMPNSFLKVETE	1513
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1579M	c.4735G>A	Putative Benign			SIFT: Polyphen:
p.V1579E	c.4736T>A	Putative Benign			SIFT: Polyphen:
p.V1579A	c.4736T>C	Putative Benign			SIFT: Polyphen: