Paralogue Annotation for RYR1 residue 1460

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1460
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1460

No paralogue variants have been mapped to residue 1460 for RYR1.

RYR1	TTYYYSVRVFAGQEPSCVWAGWVTPDYHQH>D<MSFDLSKVRVVTVTMGDEQGNVHSSLKCSN	1490
RYR2	STYYYSVRIFPGQEPANVWVGWITSDFHQY>D<TGFDLDRVRTVTVTLGDEKGKVHESIKRSN	1484
RYR3	TQCYYAIRIFAGQDPSCVWVGWVTPDYHLY>S<EKFDLNKNCTVTVTLGDERGRVHESVKRSN	1386
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1460N	c.4378G>A	Putative Benign			SIFT: Polyphen:
p.D1460E	c.4380C>G	Putative Benign			SIFT: Polyphen: