Mutation

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Related to frameshift mutation: point mutation, missense mutation

MUTATION, French law. This term is synonymous with change, and is particularly applied to designate the change which takes place in the property of a thing in its transmission from one person to another; permutation therefore happens when, the owner of the thing sells, exchanges or gives it. It is nearly synonymous with transfer. (q.v.) Merl. Repert. h.t.

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References in periodicals archive ?
Frameshift mutation and missense mutation have been regarded as 'loss of function mutations.
Complex Heterozygous Mutation in the T-cell Immune Regulator 1 Gene Associated with Severe Ocular Characteristics of Osteopetrosis in an Infant
A frameshift mutation in MC1R and a high frequency of somatic reversions cause black spotting in pigs.
Coat colour phenotype of Qingyu pig is associated with polymorphisms of melanocortin receptor 1 gene
972InsT/N insertion leading to frameshift mutation [48] and the other was the missense c.
Human induced pluripotent stem cell-derived cardiomyocytes afford new opportunities in inherited cardiovascular disease modeling
3648delC) resulted in a frameshift mutation giving rise to a predicted truncated protein (1079 amino acids) shorter than the normal protein (2809 amino acids).
Fibrillin 3 Gene Mutation in Chinese Patients with Marfan Syndrome
This strain type contains the genes for binary toxin and has an 18-bp deletion and a frameshift mutation in tcdC hypothesized to result in deregulated expression of toxins A and B.
gyrA mutations in fluoroquinolone-resistant Clostridium difficile PCR-027
7) Mutations so far described in Tarui's disease are the common point mutation of the exon/intron 5 junction, (8,9) a cryptic splice site mutation within exon 15, (10) a 75-bp inframe deletion at the splice donor site of intron 5, (10) a nonsense mutation associated with retention of intron 10, (11) a single base deletion in exon 22, resulting in a frameshift mutation and premature stop codon, (10) a deletion of the 2003 C nucleotide, (12) a G1127A frameshift resulting in a 155nt retention of intron 13, (5) and an A-G change in intron 16.
Neurologic and cardiac progression of glycogenosis type VII over an eight-year period. (Case Reports)
The in silico tools revealed the mutation as a pathogenic frameshift mutation that causes an early stop codon.
A NEW MUTATION ASSOCIATED WITH BANNAYAN RILEY RUVALCABA SYNDROME
Novel frameshift mutation in troponin C (TNNC1) associated with hypertrophic cardiomyopathy and sudden death.
Sudden Cardiac Death: A Modern Pathology Approach to Hypertrophic Cardiomyopathy
A form of albinism in cattle is caused by a tyrosinase frameshift mutation.
Mutations of TYR and MITF genes are associated with plumage colour phenotypes in geese
This is illustrated by patient HG3572, who had a 2nd frameshift mutation in the other HFE allele (Tables 1 and 2).
Global sequencing approach for characterizing the molecular background of hereditary iron disorders
21],[22] The MUC1 -VNTR single cytosine insertion is predicted to cause a frameshift mutation and generate a premature stop codon shortly beyond the VNTR terminus, resulting in a truncated protein (termed MUC1-fs) with a new amino acid sequence on the terminal end instead of a downstream SEA module as well as the transmembrane and intracellular domains.
Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease
This frameshift mutation resulting in a truncated protein is also likely to disturb normal splicing and exon skipping.
IDENTIFICATION OF A NOVEL HOMOZYGOUS DELETION OF THE TYROSINASE GENE IN A TURKISH FAMILY WITH OCULOCUTANEOUS ALBINISM TYPE 1

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