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 : 2-bp insertion in the LIPE gene. Farhan et al. (2014). The mutation caused a frameshift predicted to result in a premature termination codon (Ala507fsTer563) with an approximately 50\% loss of the original polypeptide
| Title : Partial lipodystrophy associated with muscular dystrophy of unknown genetic origin - |
| Author(s) : Carboni N , Brancati F , Cocco E , Solla E , D'Apice MR , Mateddu A , McIntyre A , Fadda E , Mura M , Lattanzi G , Piras R , Maioli MA , Marrosu G , Novelli G , Marrosu MG , Hegele RA |
| Ref : Muscle & Nerve , 49 :928 , 2014 |
| PubMedID: 24375490 |
| Gene_locus related to this paper: human-LIPE |
| Title : A novel LIPE nonsense mutation found using exome sequencing in siblings with late-onset familial partial lipodystrophy - Farhan_2014_Can.J.Cardiol_30_1649 |
| Author(s) : Farhan SM , Robinson JF , McIntyre AD , Marrosu MG , Ticca AF , Loddo S , Carboni N , Brancati F , Hegele RA |
| Ref : Can J Cardiol , 30 :1649 , 2014 |
| Abstract : Farhan_2014_Can.J.Cardiol_30_1649 |
| ESTHER : Farhan_2014_Can.J.Cardiol_30_1649 |
| PubMedSearch : Farhan_2014_Can.J.Cardiol_30_1649 |
| PubMedID: 25475467 |
| Gene_locus related to this paper: human-LIPE |