Paralogue Annotation for RYR1 residue 2487

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2487
Reference Amino Acid: Q - Glutamine
Protein Domain:


Paralogue Variants mapped to RYR1 residue 2487

No paralogue variants have been mapped to residue 2487 for RYR1.



RYR1LRSLVPLEDLVGIISLPLQIPTLGKDGALV>Q<PKMSASFVPDHKASMVLFLDRVYGIENQDF2517
RYR2LRSLIPLGDLVGVISIAFQMPTIAKDGNVV>E<PDMSAGFCPDHKAAMVLFLDRVYGIEVQDF2483
RYR3LRSLVPTEDLVGIISIPLKLPSLNKDGSVS>E<PDMAANFCPDHKAPMVLFLDRVYGIKDQTF2380
cons                              > <                              

See full Alignment of Paralogues


Known Variants in RYR1

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q2487Kc.7459C>A Putative BenignSIFT:
Polyphen:
p.Q2487Hc.7461G>T Putative BenignSIFT:
Polyphen: