C, Next-generation sequencing identified the presence of both N-terminal frameshift mutation
(CEBPA c.68_78delCGCACGCGCCC, p.Pro23fs; variant allele fraction 47%) and Cterminal in-frame deletion (CEBPA c.914_916delAGC, p.Gln305del; variant allele fraction 32%) D, Flow cytometric analysis reveals blasts with aberrant CD7 expression (Wright-Giemsa, original magnification X1000 [A]; hematoxylin-eosin, original magnification X600 [B]).
Likewise, the present study also identified similar results as in previous studies in 3 MFS pedigrees with frameshift mutations
, thereby contributing to the extension of the known mutational spectrum of frame-shift, for understanding the genotype-phenotype correlations in cardiovascular involvement.
Most of the detected mutations were missense mutations (26), 5 were splice defects, 6 were nonsense, and 3 were frameshift mutations
Row colors: pink, frameshift mutations
(insertions or deletions); green, synonymous mutations or SNPs reported as being associated with phenotypic susceptibility to pyrazinamide; gray, SNPs reported as being associated with phenotypic resistance to pyrazinamide; blue, single-nucleotide polymorphisms not previously reported in the literature.
Three severe cases of EBS Dowling- Meara caused by missense and frameshift mutations
in the keratin 14 gene.
All of the frameshift mutations
in TGFBR2 occurred at low frequency, suggesting the presence of MSI subclones in these tumors.
FrxA contained missense alterations in 55 MTZ resistant isolates while the premature truncation of FrxA was caused by frameshift mutations
in 9 MTZ resistant strains.
Similar to the other MMR genes, diverse sequence variants, including nonsense, missense, splice site, and frameshift mutations
, have been reported throughout the coding region of the MLH1 gene .
Unexpectedly, missense, nonsense, and frameshift mutations
have been found in MDS, MPN, and AML [6, 76, 77].
These mutations are missense, deletion, nonsense, or frameshift mutations
and are distributed throughout the coding sequence [57, 58].
All are nonsense or frameshift mutations
that truncate the profilaggrin molecule.
We identified six single nucleotide polymorphisms (SNPs) that have already been reported for FBN3 and five novel mutations including two frameshift mutations
(c.3648delC and c.3686insC) and three missense mutations (p.454T greater than P, p.1642G greater than P and p.1876G greater than C).