Results: 3

1.
Fig. 3.

Fig. 3. From: Insulin gene mutations as a cause of permanent neonatal diabetes.

Predicted effect of the substitution of GlyB8 with Ser on folding of the insulin molecule. (Left) Normal conformation of the mature insulin molecule highlighting residues A7, B7, and B8 (shown as space-filling models in both images). (Right) The effect of substitution at B8 with l-serine, which induces a major conformational change resulting in reorientation of residues B1–B8, so as to prevent B7 cysteine from interacting with its intended partner at A7 during folding (see Discussion).

Julie Støy, et al. Proc Natl Acad Sci U S A. 2007 September 18;104(38):15040-15044.
2.
Fig. 2.

Fig. 2. From: Insulin gene mutations as a cause of permanent neonatal diabetes.

Diagram representing the human preproinsulin molecule showing location of mutations causing ND. The amino acid residues in the signal peptide are indicated in green, the B chain in red, the C-peptide in orange, and the A chain in blue. The dashed circles indicate the basic residues that are the cleavage site for conversion from proinsulin to insulin. The mutations are noted in black circles together with location in the B or A chain.

Julie Støy, et al. Proc Natl Acad Sci U S A. 2007 September 18;104(38):15040-15044.
3.
Fig. 1.

Fig. 1. From: Insulin gene mutations as a cause of permanent neonatal diabetes.

Segregation of INS mutations in 16 families. Squares represent male family members, and circles represent female members. Black circles and squares represent persons with diabetes. A slash mark through the square or circle indicates deceased. A slash mark through the branch indicates the couple has divorced. The allele status is indicated under the symbols: N/N, two normal alleles; amino acid change/N, one mutated and one normal allele; N/A, not available for testing. The arrow indicates the proband. Family relationship was confirmed in all families by microsatellite analysis, except in UC2 (parents not available for testing) and UC105.

Julie Støy, et al. Proc Natl Acad Sci U S A. 2007 September 18;104(38):15040-15044.

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