Paralogue Annotation for RYR2 residue 4428

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4428
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4428

No paralogue variants have been mapped to residue 4428 for RYR2.



RYR2MSN-PVPMPE-V-QEKFQEQ--KA---KEE>E<KEEKEETKSEPEKAEGEDGEKEEKAKEDKG4458
RYR1TPAEPPTPEGSP-ILKRKLGVDGVEEELPP>E<PEPEPEPELEPEKADAENGEKEEVPEPTPE4520
RYR3IGKDEPPTLESTVQKKRKA---QA---AEM>K<AANEAEGKVESEKADMEDGEKEDKDKEEEQ4361
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4428Dc.13284A>C Putative BenignSIFT: tolerated
Polyphen: benign