Paralogue Annotation for RYR2 residue 2540

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2540
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2540

No paralogue variants have been mapped to residue 2540 for RYR2.

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

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2540R	c.7619A>G	Putative Benign		rs200105499	SIFT: deleterious Polyphen: possibly damaging