Sentence examples for transition at exon from inspiring English sources

For the Italian patient carrying this A→G transition at exon 8 [ 5], collection of the family history demonstrated a clear inheritance for PDB.

When plotting the exon structure of the EUL domain to the EUL protein sequence, it was clear that all EUL genes possess an exon-intron-exon transition at identical positions in the protein sequence (Additional file 2: Figure S1).

The first mimics human SMN2 and is a C-T transition at position 6 of exon 7, referred to hereafter as the C-T mutation.

The G to T transition at nucleotide 595 in exon 5 abolishes one Ban II restriction site.

One CYP1A1 SNP includes the A to G transition at position 4889 in exon 7 resulting in a change from an isoleucine to valine amino acid (Ile → Val) at codon 462 [ 12].

In a search for RAD54L mutations in 29 menigiomas with allelic deletions in 1p, the only genetic change observed was a silent C/T transition at nucleotide 2290 in exon 18.

Common single nucleotide polymorphisms in MTHFR have been reported, a C/T transition at nucleotide 677 in exon 4 (rs1801133) [ 21] that causes an alanine to valine (Al222Val) amino acid substitution [ 19].

Among CTLA-4 gene polymorphisms, a G to A transition at position 49 (+49A/G) of exon 1 leads to an alanine to threonine amino acid substitution at codon 17 in the leader peptide (A17T), and a C to T transition at position 60 (CT60) is located within the 3'-untranslated region [ 2].

The mouse Dystrophin mutant strains used are mdx (C-to-T transition at position 3185, resulting in a premature stop codon) and mdx 4CV (C-to-T transition in exon 53 at position 7916, resulting in a premature stop codon).

The only true exonic variation observed was the one located in exon 19 of the HCT-15 cell line; it consists of a G>A transition at position 75 of the exon, resulting in a met>ile amino-acid change at position 675 of the protein.

The second most commonly encountered CYP1A1 polymorphism involves an Adenine to Guanine base transition at position 2455A→G of codon 462 at exon 7, and is also known as CYP1A1*2B or Ile462Val due to the amino acid change [ 97].