missense

They also looked at two other single missense period mutations, per and per.

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

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

Patients with Missense mutations have a better prognosis.

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

These are both examples of a non-conservative (missense) mutation.

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.

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.

Benzer also proposed missense and nonsense mutations from his rII studies.

A total of 25 missense, 2 nonsense, 9 frameshift, and 5 splicing mutations have been reported till date.

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

RIP creates multiple missense and nonsense mutations in the coding sequence.

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.

About 60 missense and nonsense mutations, insertions and deletions have been identified in Oa1.

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

Thirteen NET missense mutations have been discovered so far.

As a missense substitution it changes a protein's amino acid from arginine to glutamine.

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

A number of these families have been found to have mutations, both truncating and missense, in MSH6.