Paralogue Annotation for RYR1 residue 1888

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1888
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1888

No paralogue variants have been mapped to residue 1888 for RYR1.

RYR1	DVKQILKMIEPEVFTEEEEEEDEEEEGEEE>D<EEEKEEDEEETAQEKEDEEKEEEEAAEGEK	1918
RYR2	DLKHILQLIEPSVFKEAATPEEESDTL--E>-<K---ELS----VDDAK-LQGAGEE--EAKG	1885
RYR3	DVRQILLLIDPSVFGEHSAGTEEGAEK--E>-<E---VTQ----VEEKA-VEAG-----EKAG	1786
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1888V	c.5663A>T	Putative Benign			SIFT: Polyphen: