Paralogue Annotation for RYR2 residue 2533

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2533
Reference Amino Acid: P - Proline
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2533

No paralogue variants have been mapped to residue 2533 for RYR2.

RYR2	DTAALSATDMALALNRYLCTAVLPLLTRCA>P<LFAGTEHHASLIDSLLHTVYRLSKGCSLTK	2563
RYR1	DTATFSTTEMALALNRYLCLAVLPLITKCA>P<LFAGTEHRAIMVDSMLHTVYRLSRGRSLTK	2597
RYR3	DTVSLSTTEAALALNRYICSAVLPLLTRCA>P<LFAGTEHCTSLIDSTLQTIYRLSKGRSLTK	2460
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P2533L	c.7598C>T	Inherited Arrhythmia	BrS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	BrS	Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders. Electrophoresis. 2014 35(21-22):3111-6. doi: 10.1002/elps.201400148. 24981977