Paralogue Annotation for RYR1 residue 1464

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1464
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1464

No paralogue variants have been mapped to residue 1464 for RYR1.

RYR1	YSVRVFAGQEPSCVWAGWVTPDYHQHDMSF>D<LSKVRVVTVTMGDEQGNVHSSLKCSNCYMV	1494
RYR2	YSVRIFPGQEPANVWVGWITSDFHQYDTGF>D<LDRVRTVTVTLGDEKGKVHESIKRSNCYMV	1488
RYR3	YAIRIFAGQDPSCVWVGWVTPDYHLYSEKF>D<LNKNCTVTVTLGDERGRVHESVKRSNCYMV	1390
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1464N	c.4390G>A	Putative Benign		rs368396727	SIFT: tolerated Polyphen: probably damaging