V173M_human-LIPC

General

Gene Locus : human-LIPC

Mode of mutation : Natural mutant

Disease : Hepatic triglyceride lipase Deficiency

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.V173S Val173Met c.174G>A (p.G151S Gly151Ser in the mature protein without the 22 amino-acids of signal peptide) rs767952446

References (2)

Title : Functional characterization of novel variants in the CETP promoter and the LIPC gene in subjects with hyperalphalipoproteinemia - Plengpanich_2013_Clin.Chim.Acta_416_92
Author(s) : Plengpanich W , Tongkobpetch S , Shotelersuk V , Le Goff W , Khovidhunkit W
Ref : Clinica Chimica Acta , 416 :92 , 2013
PubMedID: 23219720
Gene_locus related to this paper: human-LIPC

Title : Resequencing CETP, LIPC and LIPG genes in Thai subjects with hyperalphalipoproteinemia - Khovidhunkit_2012_Am.J.Cardiol_110_62
Author(s) : Khovidhunkit W , Chartyingcharoen P , Siriwong S , Limumpornpetch P , Plengpanich W
Ref : American Journal of Cardiology , 110 :62 , 2012
PubMedID: 22464213
Gene_locus related to this paper: human-LIPC