Paralogue Annotation for RYR1 residue 554

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 554
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 554

No paralogue variants have been mapped to residue 554 for RYR1.

RYR1	LLASLIRGNRSNCALFSTNLDWLVSKLDRL>E<ASSGILEVLYCVLIESPEVLNIIQENHIKS	584
RYR2	LLAALIRGNRKNCAQFSGSLDWLISRLERL>E<ASSGILEVLHCVLVESPEALNIIKEGHIKS	596
RYR3	LLAALIRGNRNNCAQFSNNLDWLISKLDRL>E<SSSGILEVLHCILTESPEALNLIAEGHIKS	583
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Glu554Gly	c.1661A>G	Unknown			SIFT: Polyphen: