Sentence examples for missense mutation from inspiring English sources
noun
A point mutation that results in the substitution of one amino acid by another.
If this change results in a functionally different amino acid, then a missense mutation may result.
All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation.
Protein modeling demonstrated that the missense mutation is damaging and may alter binding to ATP molecules.
A missense mutation in the APOB gene was significantly associated with AS (rs1042031, E4181K, p = 0.00001).
To report a novel missense mutation in TACSTD2 gene, L186P, responsible for gelatinous droplike dystrophy (GDLD).
The latter harbor the ortholog of the most frequently encountered human R350P desmin missense mutation.
Genetic analyses of the colon cancer revealed two MSH2 gene mutations: a heterozygous missense mutation from CAG to AAG in codon 419 on exon 7 and a missense mutation from CAA to CGA in codon 629 on exon 12.
A missense mutation, K494R, was found in intracellular loop between DI and DII in both variant CbmNav1.3a and CbmNav1.3b.
The change in the nucleotide base from Cytosine to Adenine resulted in missense mutation from cysteine to tyrosine.
The nucleotide substitution A (adenine) to G (guanine) in Loc_Os06g45560 resulted in a missense mutation from Threonine to Alanine.
Conclusion: In this white population a missense mutation of MTHFR, an insertion mutation of CBS, and a missense mutation of F5 were not found to be associated with an increased risk for preeclampsia, either independently or in combination.
