missense mutation

No missense mutations have been found in human paraplegin to date.

It can be associated with missense mutations in fibroblast growth factor receptor-3.

Not all missense mutations lead to appreciable protein changes.

Patients with Missense mutations have a better prognosis.

Missense mutations: which code for a different amino acid.

However, it is known that single missense mutations can have a large spectrum from rather mild to very severe functional effects.

Many missense mutations of the LQT1 gene have been identified.

Nonsense and missense mutations cause the most severe phenotypes.

Cancer associated missense mutations can lead to drastic destabilisation of the resulting protein.

The three missense mutations that have received further study show a number of aberrant properties, with one underlying theme.

A missense mutation changes a codon so that a different protein is created, a non-synonymous change.

An induced missense mutation of this residue results in inactivated autoglycosylation.

However, missense mutation affecting some other residues of glycogenin-1 has also been shown to eliminate autoglycosilation.

Missense mutations in the 7TM region resulted in loss of signalling.

Approximately 70% of galactosemia-causing alleles have a single missense mutation in exon 6.

Most of those mutations are missense mutations and inherited mostly in a dominant manner.

The S141L mutation, one of the few missense mutations, has been of particular interest to researchers.

These cells have a deletion of one dhfr allele and a Missense mutation in the other.

About 80% of the mutations are missense mutations.

It is caused by a missense mutation in the SLC35A3 gene.

In some cases, single missense mutations in p53 have been shown to disrupt p53 stability and function.

From the results it was noted that most of the mutations were due to frameshift and missense mutations.

Serous carcinoma of the ovaries has been related to a missense mutation S6F.

Thirteen NET missense mutations have been discovered so far.

Both patients described were heterozygous for the missense mutation at codon 200 of the prion protein gene.