Paralogue Annotation for RYR2 residue 4457

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4457
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region


Paralogue Variants mapped to RYR2 residue 4457

No paralogue variants have been mapped to residue 4457 for RYR2.



RYR2EEKEEKEETKSEPEKAEGEDGEKEEKAKED>K<GKQKLR--------QLHTHRYGEPEVPESA4479
RYR1PEPEPEPEPELEPEKADAENGEKEEVPEPT>P<EPPKKQ---------APPSPPPKKEEAGGE4540
RYR3MKAANEAEGKVESEKADMEDGEKEDKDKEE>E<QAEYLWTEVTKKKKRRCGQKVEKPEAFTAN4390
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR2

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K4457Rc.13370A>G Putative BenignSIFT:
Polyphen:
p.K4457Nc.13371G>T Putative BenignSIFT:
Polyphen: