Paralogue Annotation for RYR2 residue 4421

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4421
Reference Amino Acid: E - Glutamate
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4421

No paralogue variants have been mapped to residue 4421 for RYR2.



RYR2IPHNPNAGLSDLMSN-PVPMPE-V-QEKFQ>E<Q--KA---KEEEKEEKEETKSEPEKAEGED4446
RYR1EGAGGLGDMGDTTPAEPPTPEGSP-ILKRK>L<GVDGVEEELPPEPEPEPEPELEPEKADAEN4508
RYR3GPEVGLGDLSEIIGKDEPPTLESTVQKKRK>A<---QA---AEMKAANEAEGKVESEKADMED4349
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E4421Ac.13262A>C Putative BenignSIFT:
Polyphen: