Gene Locus : human-LIPE
Mode of mutation : Natural mutant
Disease : Lipodystrophy, familial partial, type 6
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : 19-bp deletion (c.2300_2318del) in exon 9 of the LIPE gene, causing a frameshift predicted to result in a premature termination codon (Val767GlyfsTer102)
| Title : Null mutation in hormone-sensitive lipase gene and risk of type 2 diabetes - Albert_2014_N.Engl.J.Med_370_2307 |
| Author(s) : Albert JS , Yerges-Armstrong LM , Horenstein RB , Pollin TI , Sreenivasan UT , Chai S , Blaner WS , Snitker S , O'Connell JR , Gong DW , Breyer RJ, 3rd , Ryan AS , McLenithan JC , Shuldiner AR , Sztalryd C , Damcott CM |
| Ref : N Engl J Med , 370 :2307 , 2014 |
| Abstract : Albert_2014_N.Engl.J.Med_370_2307 |
| ESTHER : Albert_2014_N.Engl.J.Med_370_2307 |
| PubMedSearch : Albert_2014_N.Engl.J.Med_370_2307 |
| PubMedID: 24848981 |
| Gene_locus related to this paper: human-LIPE |