stop mutation

Any mutation that changes a codon that codes for an amino acid into a codon that codes for a ‘stop’. Stop codons are UAG (amber codon), UAA (ochre codon) and UGA (opal codon). The effect of a stop mutation is that a protein is shortened so that an abnormal form is produced. CYSTIC FIBROSIS, MUSCULAR DYSTROPY and other genetic disorders are caused by stop mutations. See also PTC124.

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Mutations included 2 frame shift mutations, one stop mutation and five missense mutations.

Potentially pathogenic mutations were found in 3.8% (3/78) diffuse carcinomas, including one stop mutation and two missense mutations.

Oxidative Phosphorylation System in Gastric Carcinomas and Gastritis

Furthermore, an overview of thirty HDR syndrome families with corresponding GATA3 mutations revealed that hearing impairment occurred earlier in the younger generation in at least nine familial cases (30%) and two thirds of them were found to carry premature stop mutations. Conclusions: This study highlights the phenotypic heterogeneity of HDR and points to a possible genetic anticipation in patients with HDR, which needs to be further investigated.

There was a significant difference in the types of the mutations in these nine familial cases, indicating a high proportion of premature stop mutations as much as 66.7%.{Table 2}

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome

To date, 35 mutations have been reported in the HSD17B3 gene, three of which are STOP mutations. (7) Although mutations throughout the gene have been described, a mutation cluster region in exon nine with complete elimination of 17[beta]-HSD3 activity was identified in many populations.

A novel mutation causing 17-[beta]-hydroxysteroid dehydrogenase type 3 deficiency in an Omani child: first case report and review of literature

SATURDAY X-MEN: THE LAST STAND CHANNEL 4 10PM When the human race finds a cure to stop mutations, Magneto (Ian McKellan) organises an army of mutants to wage war on humanity, but the X-Men stand in their way.

FILMS OF THE WEEK

According to a new mouse study, antibiotics that fool cells into ignoring genetic defects called stop mutations may sometimes halt the progression of Duchenne muscular dystrophy, a usually fatal disease.

Antibiotics for Muscular Dystrophy?

In some people with cystic fibrosis, the gene has abnormalities, called stop mutations, that derail the process of producing the CTFR protein.

The researchers, building on earlier work showing that aminoglycosides can override stop mutations, exposed damaged CTFR genes to the antibiotic in the lab.