homozygous *c.377insT (p.Pro128AlafsX19) mutation* in AGPA2

16:17 Dec 29, 2015 

Grazie/Thank you

09:28 Dec 28, 2015 

AGPATs are critical enzymes involved in the biosynthesis of triglyceride and phospholipids from glycerol-3-phosphate. They catalyze acylation of fatty acids at the sn-2 position of glycerol moiety and convert lysophosphatidic acid to phosphatidic acid (Fig. 2). Each of the 11 known AGPAT isoforms is encoded by a distinct gene and has distinct tissue expression and biochemical properties (20, 21). AGPAT2 is highly expressed in the adipose tissue, and its deficiency may cause lipodystrophy by limiting triglyceride or phospholipid biosynthesis there (22). - See more at: http://press.endocrine.org/doi/full/10.1210/jc.2011-1159#sth...

09:26 Dec 28, 2015 

I am not a physician but "Genome-wide linkage analysis with positional cloning strategy led to the identification of two genes for CGL: 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2) on chromosome 9q34 (13, 14) and Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) on chromosome 11q13 (15). Since then, the candidate gene approach led to the identification of two other genes, caveolin 1 (CAV1) (16) and polymerase I and transcript release factor (PTRF) (17). CGL due to AGPAT2 (CGL1) and BSCL2 (CGL2) mutations are the most common varieties and have been reported in patients of various ethnicities. - See more at: http://press.endocrine.org/doi/full/10.1210/jc.2011-1159#sth...

09:10 Dec 28, 2015 

Dovrebbe significare inserzione di Timina in posizione 377 del gene che causa una mutazione frameshift (fs) con sostituzione della Pro128 con Ala e un codone di stop (X) in posizione 19

08:28 Dec 28, 2015 

Thank you but what I asked is the meaning of the formula: c.377insT (p.Pro128AlafsX19).

22:03 Dec 26, 2015 

A homozygous mutation is an identical mutation of both the paternal and maternal alleles.
A heterozygous mutation is a mutation of only one allele.
Compound heterozygous mutations or a genetic compound comprises two different mutations in the paternal and maternal alleles