Paralogue Annotation for RYR2 residue 1580

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1580
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1580

No paralogue variants have been mapped to residue 1580 for RYR2.

RYR2	PNVFQFELGRIKNVMPLSAGLFKSEHKNPV>P<QCPPRLHVQFLSHVLWSRMPNQFLKVDVSR	1610
RYR1	QNVIQFELGKQKNIMPLSAAMFQSERKNPA>P<QCPPRLEMQMLMPVSWSRMPNHFLQVETRR	1618
RYR3	TSLFQFELGKLKNAMPLSAAIFRSEEKNPV>P<QCPPRLDVQTIQPVLWSRMPNSFLKVETER	1514
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1580L	c.4739C>T	Putative Benign			SIFT: Polyphen:
p.P1580Q	c.4739C>A	Putative Benign			SIFT: Polyphen: