G81D_human-LPL

General

Gene Locus : human-LPL

Mode of mutation : Natural mutant

Disease : Hyperlipoproteinemia TypeI

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 : p.Gly81Asp G81D c.242G > A, (Gly64Asp G64D in the mature protein which do not count signal peptide)

References (2)

Title : Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia - Rabacchi_2015_Atherosclerosis_241_79
Author(s) : Rabacchi C , Pisciotta L , Cefalu AB , Noto D , Fresa R , Tarugi P , Averna M , Bertolini S , Calandra S
Ref : Atherosclerosis , 241 :79 , 2015
Abstract : Rabacchi_2015_Atherosclerosis_241_79
ESTHER : Rabacchi_2015_Atherosclerosis_241_79
PubMedSearch : Rabacchi_2015_Atherosclerosis_241_79
PubMedID: 25966443
Gene_locus related to this paper: human-LPL

Title : A three month-old infant with severe hyperchylomicronemia: Molecular diagnosis and extracorporeal treatment - Stefanutti_2013_Atheroscler.Suppl_14_73
Author(s) : Stefanutti C , Gozzer M , Pisciotta L , D'Eufemia P , Bosco G , Morozzi C , Papadia F , Shafii M , Di Giacomo S , Bertolini S
Ref : Atheroscler Suppl , 14 :73 , 2013
Abstract : Stefanutti_2013_Atheroscler.Suppl_14_73
ESTHER : Stefanutti_2013_Atheroscler.Suppl_14_73
PubMedSearch : Stefanutti_2013_Atheroscler.Suppl_14_73
PubMedID: 23357145
Gene_locus related to this paper: human-LPL