Paralogue Annotation for RYR1 residue 4868

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4868
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4868

No paralogue variants have been mapped to residue 4868 for RYR1.

RYR1	LVMTVGLLAVVVYLYTVVAFNFFRKFYNKS>E<DEDEPDMKCDDMMTCYLFHMYVGVRAGGGI	4898
RYR2	LVLTVGLLAVVVYLYTVVAFNFFRKFYNKS>E<DGDTPDMKCDDMLTCYMFHMYVGVRAGGGI	4827
RYR3	LVLTVGLLAVVVYLYTVVAFNFFRKFYNKS>E<DDDEPDMKCDDMMTCYLFHMYVGVRAGGGI	4730
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4868K	c.14602G>A	Putative Benign		rs187569997	SIFT: Polyphen: