Paralogue Annotation for RYR2 residue 4443

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4443
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4443

No paralogue variants have been mapped to residue 4443 for RYR2.



RYR2KFQEQ--KA---KEEEKEEKEETKSEPEKA>E<GEDGEKEEKAKEDKGKQKLR--------QL4465
RYR1KRKLGVDGVEEELPPEPEPEPEPELEPEKA>D<AENGEKEEVPEPTPEPPKKQ---------A4526
RYR3KRKA---QA---AEMKAANEAEGKVESEKA>D<MEDGEKEDKDKEEEQAEYLWTEVTKKKKRR4376
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4443Dc.13329G>T Putative BenignSIFT: tolerated
Polyphen: possibly damaging