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.



RYR2TDMALALNRYLCTAVLPLLTRCAPLFAGTE>H<HASLIDSLLHTVYRLSKGCSLTKAQRDSIE2570
RYR1TEMALALNRYLCLAVLPLITKCAPLFAGTE>H<RAIMVDSMLHTVYRLSRGRSLTKAQRDVIE2604
RYR3TEAALALNRYICSAVLPLLTRCAPLFAGTE>H<CTSLIDSTLQTIYRLSKGRSLTKAQRDTIE2467
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.H2540Rc.7619A>G Putative BenignSIFT: deleterious
Polyphen: possibly damaging