Paralogue Annotation for RYR1 residue 2573

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2573
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2573

No paralogue variants have been mapped to residue 2573 for RYR1.

RYR1	TTEMALALNRYLCLAVLPLITKCAPLFAGT>E<HRAIMVDSMLHTVYRLSRGRSLTKAQRDVI	2603
RYR2	ATDMALALNRYLCTAVLPLLTRCAPLFAGT>E<HHASLIDSLLHTVYRLSKGCSLTKAQRDSI	2569
RYR3	TTEAALALNRYICSAVLPLLTRCAPLFAGT>E<HCTSLIDSTLQTIYRLSKGRSLTKAQRDTI	2466
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E2573K	c.7717G>A	Putative Benign			SIFT: Polyphen:
p.E2573G	c.7718A>G	Putative Benign			SIFT: Polyphen:
p.E2573V	c.7718A>T	Putative Benign			SIFT: Polyphen: benign