Annotation Detail
Information
- Associated Genes
- PCSK9
- Associated Variants
-
PCSK9 p.Arg46Leu (p.R46L)
(
ENST00000302118.5,
ENST00000713786.1,
ENST00000710286.1 )
PCSK9 p.Ser127Arg (p.S127R) ( ENST00000713786.1, ENST00000710286.1, ENST00000673903.1, ENST00000302118.5 )
PCSK9 p.Asp374Asn (p.D374N) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Asp374Tyr (p.D374Y) ( ENST00000713786.1, ENST00000673903.1, ENST00000710286.1, ENST00000302118.5 )
PCSK9 p.Arg46Leu (p.R46L) ( ENST00000302118.5, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Ser127Arg (p.S127R) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Asp374Asn (p.D374N) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 )
PCSK9 p.Asp374Tyr (p.D374Y) ( ENST00000302118.5, ENST00000673903.1, ENST00000710286.1, ENST00000713786.1 ) - Associated Disease
- Hypercholesterolemia
- Source Database
- DisGeNET
- Description
- Using this cell-based assay of PCSK9 activity, we found that the relative potencies of several PCSK9 missense mutants (S127R and D374Y, associated with hypercholesterolemia, and R46L, associated with hypocholesterolemia) correlate with LDL cholesterol levels in humans carrying such mutations.
- Pubmed
- 17493938
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.162405859306164
- Year of publication
- 2007
Drugs