frameshift

(ˈfreɪmˌʃɪft)

a frameshift mutation is a genetic mutation in which a number of nucleotides not divisible by three are either inserted into or deleted from a nucleic acid sequence

Collins English Dictionary – Complete and Unabridged, 12th Edition 2014 © HarperCollins Publishers 1991, 1994, 1998, 2000, 2003, 2006, 2007, 2009, 2011, 2014

frame•shift

(ˈfreɪmˌʃɪft)

n.

the addition or deletion of one or more nucleotides in a strand of DNA, which shifts the codon triplets of the genetic code of messenger RNA, resulting in a mutation.

[1970–75]

References in periodicals archive

23 c.1821dupT###French Canadian Frameshift p.Arg608Serfs*26###Exon 14###21

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family

The replication error results in a frameshift mutation that inactivates or alters major tumor suppressor genes.

PCR: a versatile tool--from detecting genetic diseases and cancers to monitoring stability after bone marrow transplants

Altogether, 4 differences in annotated genes are nonsynonymous; 2 cause a frameshift, thereby truncating the MGF 110-1L gene and changing the amino acid sequence of the DP60R protein; and 9 differences were identified in noncoding regions (Table).

Comparative Analysis of Whole-Genome Sequence of African Swine Fever Virus Belgium 2018/1

(3) Yang and colleagues (2015) performed the WES test on 2,157 patients with a clinical history of ID or developmental delay (DD) and identified seven patients with a de novo frameshift and nonsense mutations in the same gene.

Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report

The deletion causes a frameshift mutation and a premature stop codon (p.Asn574LysfsTer19; NM_001135243) of the treacle protein.

Treacher Collins Syndrome with a Novel Deletion in the TCOF1 Gene

* Frameshift mutation--this occurs when one or more DNA bases are inserted or deleted, resulting in a change to the reading frame of the gene.

Genomic medicine for inherited eye disease: This article provides a guide to the basics of genetic eye disease and how we are moving to the era of genomic medicine in ophthalmology

The N-terminal frameshift or nonsense mutations cause the truncation of the wild-type 42-kDa protein, leading to a mutated 30-kDa isoform that lacks the first transactivation domain (TAD1).

Myeloid Neoplasm With Germline Predisposition: A 2016 Update for Pathologists

A novel frameshift pathogenic variant in the heterozygous state of the KMT2A gene (v1.

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report/Sindrome de Wiedemann-Steiner por una nueva variante patogenica en KMT2A: reporte de un caso

We report a novel frameshift mutation associated with LS phenotype in a Moroccan family.

Molecular and presymptomatic analysis of a Moroccan Lynch syndrome family revealed a novel frameshift MLH1 germline mutation

Loci and nature of the mutations in MMADHC determine the subtype of cblD disease.[3] Mutation c.24-25delAG at the 5' end of the MMADHC coding sequence is a frameshift mutation that can produce premature termination codons.

A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family

A novel frameshift mutation (between C3H motifs in the N-terminal) in the imprinted MKRN3 gene was identified in one male case and his affected father.

Investigation of MKRN3 Mutation in Patients with Familial Central Precocious Puberty