TA98 is a tester strain that detects compounds, which induce frameshift
mutations (Maron & Ames 1983).
Nonsense and frameshift
mutations account for up to 48% and 32% of all small lesions in DMD patients, while nonsense and frameshift
mutations represent only 24% and 16% of them in BMD patients, respectively.
Thr297Ile) Cytogenetic Patient Effect result FA82 Frameshift
mutation (pathogenic) Positive FA121 Frameshift
mutation (pathogenic) Positive FA189 Polymorphism (non-pathogenic) Positive FA199 Frameshift
mutation (pathogenic) Not done FA312 No variation observed Not done FA402 No variation observed Unsuccessful FA465 Splice donor site mutation (pathogenic) Polymorphism (non-pathogenic) Not done Polymorphism (non-pathogenic) FA = Fanconi anaemia.
Two new frameshift
mutations in exon 25 of FBN3 were also identified.
Except for in a few cases, missense mutations in PMP22 are believed to often lead to toxic gain-of-function and result in the CMT1 phenotype, while nonsense and frameshift
mutations cause haploinsufficiency of PMP22 and result in the HNPP phenotype.
2012_2020duplCAGC 17 1 (black) Pathogenic; frameshift
One possible explanation for the largest odds ratio occurring for Leu1007fsinsC is that Leu1007fsinsC is a frameshift
variation followed by a premature stop codon that truncates the protein by 33 amino acid residues, whereas the other 2 variants have less detrimental effects on the protein.
Amplification with PCR and sequencing was used to identify the binary toxin gene (cdtB) and an 18-bp deletion and a frameshift
mutation at position 117 in the tcdC gene.
These include frameshift
mutations caused by nucleotide insertion or deletion, as well as missense, nonsense, and splice site mutations (Abramowicz et al.
mutations (TA98) were induced 44.
The mutation was predicted to cause the 96[sup]th amino acid of the GATA3, tryptophan, to be substituted by glycine, resulting in a frameshift
SIRF 17 will launch on the evening of Thursday, August 3, with aerial theatre show, Frameshift