frameshift mutation

(redirected from Frameshift)
Also found in: Dictionary, Medical, Wikipedia.

frameshift mutation

[¦frām‚shift myü′tā·shən]
(genetics)
The addition or deletion of nucleotides to anexon in numbers other than three, which shifts the translation reading frame so a new set of codons beyond the point of abnormality in the messenger ribonucleic acid is read. Also known as phase-shift mutation.
References in periodicals archive ?
Using the Trio-WES approach, we identified a novel pathogenic frameshift variant in AHDC1.
(4,8) The majority of the AML patients have 2 CEBPA mutations with both N-terminal frameshift mutation and C-terminal inframe mutation on different alleles.
The majority of mutations are nonsense, frameshift, splice site deletion, or exon deletion, leading to a truncated transcript (messenger RNA) or protein.
DNA testing identified a heterozygous duplication of (G) nucleotide at position 910 in the MLH1 gene (MLH1: c.910dupG), resulting in a frameshift mutation affecting codon 304 and generating a premature stop three codons downstream (p.D304 fsX306) (Figure 2b).
In a recent study from Turkey, Simsek et al (18) reported that two heterozygous frameshift mutations were identified in the MKRN3 gene in two probands with familial iCPP and in seven patients with iCPP, as well as 11 unaffected family members.
In family PKGM2, a homozygous frameshift mutation, c.736dupT, p.W246LfsX81 (Figure-1d) and a previously reported missense variant c.685G>A, p.E229K in exon 2 were identified as segregating with the phenotype.
Pre-clinical findings for ADXS-NEO in mouse models showed that it generates T cell responses against neoantigen peptides that control tumor growth, even when they were identified as non-immunogenic using a conventional peptide-adjuvant immunisation and that the Advaxis Lm vector has the ability to target frameshift mutations of greater than 90 amino acids, and to generate T cells to multiple neoantigens per frameshift.
Additionally, data were presented highlighting the capacity of the Advaxis Lm vector and its ability to target frameshift mutations of greater than 90 amino acids, and to generate T cells to multiple neoantigens per frameshift in tumor mouse models.
The most frequently presented forms were missense mutations, followed by frameshift mutations.
The mutation is expected to cause a frameshift, in which the glutamic acid at codon 91 is changed to phenylalanine, and a premature stop codon is created at position 4 of the new reading frame, denoted p.Glu91PhefsX4.
Most FA patients carry private mutations, resulting in a large heterogeneous list of FANCA mutations, including large deletions, small indels, and nonsense, splicing, frameshift and missense mutations, reported in the databases.
Variants related to mutations with a higher predicted impact, such as nonsense or frameshift mutations, were also mostly observed in the laboratory-adapted strains.