Paralogue Annotation for RYR1 residue 4514

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4514
Reference Amino Acid: V - Valine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 4514

No paralogue variants have been mapped to residue 4514 for RYR1.



RYR1EEELPPEPEPEPEPELEPEKADAENGEKEE>V<PEPTPEPPKKQ---------APPSPPPKKE4535
RYR2---KEEEKEEKEETKSEPEKAEGEDGEKEE>K<AKEDKGKQKLR--------QLHTHRYGEPE4474
RYR3---AEMKAANEAEGKVESEKADMEDGEKED>K<DKEEEQAEYLWTEVTKKKKRRCGQKVEKPE4385
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.V4514Fc.13540G>T Putative BenignSIFT:
Polyphen: