Paralogue Annotation for RYR1 residue 2574

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2574
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2574

No paralogue variants have been mapped to residue 2574 for RYR1.

RYR1	TEMALALNRYLCLAVLPLITKCAPLFAGTE>H<RAIMVDSMLHTVYRLSRGRSLTKAQRDVIE	2604
RYR2	TDMALALNRYLCTAVLPLLTRCAPLFAGTE>H<HASLIDSLLHTVYRLSKGCSLTKAQRDSIE	2570
RYR3	TEAALALNRYICSAVLPLLTRCAPLFAGTE>H<CTSLIDSTLQTIYRLSKGRSLTKAQRDTIE	2467
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2574Y	c.7720C>T	Putative Benign		rs144203769	SIFT: Polyphen: benign