Paralogue Annotation for RYR1 residue 1457

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1457
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1457

No paralogue variants have been mapped to residue 1457 for RYR1.

RYR1	LNTTTYYYSVRVFAGQEPSCVWAGWVTPDY>H<QHDMSFDLSKVRVVTVTMGDEQGNVHSSLK	1487
RYR2	QT-STYYYSVRIFPGQEPANVWVGWITSDF>H<QYDTGFDLDRVRTVTVTLGDEKGKVHESIK	1481
RYR3	HTTTQCYYAIRIFAGQDPSCVWVGWVTPDY>H<LYSEKFDLNKNCTVTVTLGDERGRVHESVK	1383
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1457R	c.4370A>G	Putative Benign			SIFT: Polyphen: