The vast majority of germline mutations occur as an Nterminal frameshift c.415_418dupGATG (p.D140Gfs*2), but other rare germline frameshift mutations
or missense variants have also been reported.
In this case report, we have described a novel frameshift mutation
(c.910dupG) located in exon 11 of the MLH1 gene among a Moroccan family diagnosed with LS.
3 novel, not yet reported, pathogenic frameshift mutations
in FBN1 were identified, which may contribute to providing diagnostic values in precision medicine of the genotype-cardiovascular phenotype relationship.
Besides, the ratio of nonsense mutation and frameshift mutation
was comparatively high, which indicated that the mutation types were rare.
In exon 3, we found a novel homozygous frameshift mutation
(c.423_424insG, p.Gly143fs), resulting in a completely different translation from the original.
The most common mutations of BRCA2 found in pancreatic cancer patients are 6174delT frameshift mutation
, 6158insT mutation, splice site mutation 16-2A > G, and the splice site mutation 15-1G > A [35, 36].
Therefore the purpose of the current study was; to ascertain the strain of microorganism used for Anthrax vaccine production, to observe any point or frameshift mutation
and to conduct phylogenetic analysis of strain under study against various related strains and species.
TA98 (frameshift mutation
) and TA100 (base-pair substitution) are two common strains of Salmonella typhimurium assessed in Ames testing.
in the cartilage-derived morphogenetic protein-1 (CDMP1) gene and severe acromesomelicchondrodysplasia resembling grebe type chondrodysplasia.
Genetic sequence analysis detected a novel, frameshift mutation
at c.2044_2045 in exon 18 of the MLH1 gene.
He had a frameshift mutation
in RUNX1, as well as a JAK2-V617F mutation.
Zingman et al., "Atrial natriuretic peptide frameshift mutation
in familial atrial fibrillation," New England Journal of Medicine, vol.