Paralogue Annotation for RYR2 residue 2541

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2541
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2541

No paralogue variants have been mapped to residue 2541 for RYR2.

RYR2	DMALALNRYLCTAVLPLLTRCAPLFAGTEH>H<ASLIDSLLHTVYRLSKGCSLTKAQRDSIEV	2571
RYR1	EMALALNRYLCLAVLPLITKCAPLFAGTEH>R<AIMVDSMLHTVYRLSRGRSLTKAQRDVIED	2605
RYR3	EAALALNRYICSAVLPLLTRCAPLFAGTEH>C<TSLIDSTLQTIYRLSKGRSLTKAQRDTIEE	2468
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H2541N	c.7621C>A	Putative Benign			SIFT: Polyphen: