Examples of 'missense mutations' in a sentence
Meaning of "missense mutations"
Missense mutations are genetic mutations that alter a single nucleotide in a DNA sequence, resulting in the substitution of one amino acid in a protein for another. These mutations can lead to changes in protein structure and function, potentially causing genetic diseases or other phenotypic variations
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- plural of missense mutation
How to use "missense mutations" in a sentence
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missense mutations
We identified seven missense mutations in nine patients.
The majority of the mutations observed are missense mutations.
People with missense mutations have a better prognosis.
Arrows indicate the location of missense mutations.
Two missense mutations have been described.
A method and server for predicting damaging missense mutations.
Three novel putative missense mutations were also detected.
Missense mutations in this gene have been associated with desmosterolosis.
The vast majority are missense mutations of reduced interest.
Missense mutations in the dbt result in an altered circadian rhythm.
These mutations can be either sense or missense mutations or substitutions.
Nonsense and missense mutations cause the most severe phenotypes.
Deregulated expression is also observed in strains containing missense mutations in the ribC gene.
Some missense mutations are identified in two or more types of tumour types.
In another embodiment of the present invention are the missense mutations conservative mutations or substitutions.
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Missense mutations lead to peptides with single amino acid changes.
Most of those mutations are missense mutations and inherited mostly in a dominant manner.
Missense mutations are rare.
Alleles that produce no or truncated protein have more severe effects than missense mutations.
Missense mutations cause a single amino acid change within the protein.
A new study established a computationally integrated approach to investigate the functional impact of missense mutations.
Three of the four missense mutations cause nonconservative changes in amino acids.
Schematic representation of the amino acid variations observed in weak D types with single missense mutations.
Position of missense mutations are given as numbers above the mutated amino acid.
Most patients with HIDS are compound heterozygotes for missense mutations in the MVK gene.
The four missense mutations involved amino acids which are crucial for enzyme activity.
With this process, both nonsense and missense mutations are possible.
Thirteen NET missense mutations have been discovered so far.
One of the probably pathogenic mutations was a deletion, others were missense mutations.
Missense mutations in the MEFV gene.
It can be associated with missense mutations in fibroblast growth factor receptor-3.
Missense mutations in SNCA are rare.
No synergistic effect in attenuation was observed between the missense mutations and A30.
Very rarely, missense mutations are observed.
The first was the mild phenotype associated with missense mutations such as I506V.
All 9 of the missense mutations were confirmed by mass spectrometric genotyping.
Loss-of-function mutations, nonsense mutations, and missense mutations are three of the most common.
The position of missense mutations within nCL1 domain are indicated by black dots.
The result is selection for missense mutations in TP53.
Missense mutations in the 7TM region resulted in loss of signalling.
One intragenic deletion and ten different missense mutations which cause LQT were identified in KVLQT1.
Many missense mutations of the LQT1 gene have been identified.
All mutations detected in MYH7 and MYBPC3 were missense mutations.
However, not all missense mutations lead to appreciable protein changes.
About 80 % of the mutations are missense mutations.
Molecular effects of missense mutations - Bioinformatics analysis of genetic defects.
Of these, 9 caused amino acid changes ( non-synonymous ), all of which were missense mutations.
Missense mutations of FGFR2 have been found in endometrial cancer and melanoma.
The mutant sequences contain various missense mutations at either codon 12 or codon 13 of exon 2.
Missense mutations in the PTPN11 locus are associated with both Noonan syndrome and Leopard syndrome.
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Ecstasy causes serious mutations in animal brains
These mutations most likely are compensatory mutations
Most loss of function mutations are selected against