Paralogue Annotation for RYR1 residue 1900

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1900
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1900

No paralogue variants have been mapped to residue 1900 for RYR1.

RYR1	VFTEEEEEEDEEEEGEEEDEEEKEEDEEET>A<QEKEDEEKEEEEAAEGEKEEGLEEGLLQMK	1930
RYR2	VFKEAATPEEESDTL--E-K---ELS---->V<DDAK-LQGAGEE--EAKGGKRPKEGLLQMK	1897
RYR3	VFGEHSAGTEEGAEK--E-E---VTQ---->V<EEKA-VEAG-----EKAGKEAPVKGLLQTR	1798
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1900V	c.5699C>T	Putative Benign			SIFT: tolerated Polyphen: benign