Annotation Detail
Information
- Associated Genes
- NUBP1
- Associated Variants
-
NUBP1 MUTATION
NUBP1 MUTATION
MC4R p.Cys271Tyr (p.C271Y) ( ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 )
MC4R p.Gly98Arg (p.G98R) ( ENST00000299766.5 )
MC4R p.Pro78Leu (p.P78L) ( ENST00000299766.5 )
MC4R p.Asn62Ser (p.N62S) ( ENST00000299766.5 )
MC4R p.Glu61Lys (p.E61K) ( ENST00000299766.5 )
MC4R p.Ser58Cys (p.S58C) ( ENST00000299766.5 )
MC4R p.Cys271Tyr (p.C271Y) ( ENST00000299766.5 )
MC4R p.Arg165Trp (p.R165W) ( ENST00000299766.5 )
MC4R p.Gly98Arg (p.G98R) ( ENST00000299766.5 )
MC4R p.Pro78Leu (p.P78L) ( ENST00000299766.5 )
MC4R p.Asn62Ser (p.N62S) ( ENST00000299766.5 )
MC4R p.Glu61Lys (p.E61K) ( ENST00000299766.5 )
MC4R p.Ser58Cys (p.S58C) ( ENST00000299766.5 ) - Associated Disease
- obesity
- Source Database
- DisGeNET
- Description
- As tested with 12 obesity-causing human MC4R variants including S58C, E61K, N62S, I69T, P78L, C84R, G98R, T162I, R165W, W174C, C271Y, and P299H, Ipsen 17 was found to be the most universal pharmacological chaperone of MC4R reported so far because it can completely rescue nearly all mutant receptors (except P299H) with the highest potency (an EC50 value of approximately 10(-8) M) and efficiency when compared with results for other tested pharmacological chaperones of MC4R including ML00253764, PBA, MTHP, PPPone, MPCI, DCPMP, and NBP described in the literature.
- Pubmed
- 24780838
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2015
Drugs