frameshift


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frame·shift

(frām'shift),
As used in genetics, a mutation that causes a sequence such that the reading frame groups of three bases in mRNA become out of register; the insertion or deletion of one or two bases, for example, would lead to an altered grouping of three bases causing incorrect amino acid residues to be incorporated into growing polypeptide chains, or would signal premature chain termination.
Frameshiftclick for a larger image
Fig. 165 Frameshift . The effect of inserting an extra DNA base into nucleotide base sequence.

frameshift

an altered reading of the GENETIC CODE during TRANSLATION in PROTEIN SYNTHESIS, caused by a change in the nucleotide base sequence of DNA and RNA due to the insertion or deletion of one or more bases (except three bases or multiples of three bases). Fig. 165 shows an example of a DNA base insertion between bases 4' and 5'. When the sequence is read from left to right the first amino acid is unchanged, but the second and subsequent amino acids will be altered, producing a mutant protein.
References in periodicals archive ?
A novel heterozygous de novo frameshift variant (figure 2) in AHDC1 (NM_001029882.3) was identified: c.1529delG (p.Gly510Alafs*12).
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 summary, we reported the first case of a patient from Colombia with a frameshift pathogenic variant not reported previously in the KMT2Agene.
The majority of the MMR mutations are truncating (nonsense or frameshift), and most of them are specific to a single family (11).
Two Frameshift Mutations in MKRN3 in Turkish Patients with Familial Central Precocious Puberty.
PCG due to CYP1B1 mutations is an important cause of blindness in many populations.6 A frameshift mutation c.736dupT, p.W246LfsX81 and other known mutations segregating with the disease phenotype in five of the six Pakistani PCG families in the study was identified.
In this notation, "del" means deletion, "ins" means insertion, "dup" means duplication, "fs" means frameshift, and "*" indicates a stop codon gained.
To date, about 3000 mutations [3] have been detected in FBN1 and mainly classified into 3 types including missense mutations, in-frame deletions, and nonsense mutations due to frameshift leading to premature termination codons (PTC) [4, 5], even though progresses had been made for the detection of causal mutations in MFS.
The mutation p.A1324D is a missense change leading to an amino acid substitution, and p.Q1337Qfs*22 results in a frameshift insertion and introduces a stop codon in the MYO15A open reading frame.
Recessive mutations can be missense, which result in the production of a functionally deficient RyR1 protein (loss of function) or hypomorphic mutations (nonsense, frameshift, and splice), which cause reduction of RYR1 expression (lowering mRNA levels) with marked reduced or absent protein expression.
For example, frameshift mutation or nonsense mutation may induce syndromic hearing loss.
Herein, we report an SCN patient with a novel homozygous frameshift mutation in the HAX1 gene in an attempt to improve the diagnosis and management of SCN.