Paralogue Annotation for RYR1 residue 1588

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1588
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1588

No paralogue variants have been mapped to residue 1588 for RYR1.

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

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1588L	c.4763C>T	Putative Benign		rs151029675	SIFT: Polyphen: probably damaging