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Items: 18

  • Unknown field was ignored: [Function Class].
1.

Frameshift Mutation

A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.

Year introduced: 1991

2.

Genes, Suppressor

Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.

Year introduced: 1991

3.

Frameshifting, Ribosomal

A directed change in translational READING FRAMES that allows the production of a single protein from two or more OVERLAPPING GENES. The process is programmed by the nucleotide sequence of the MRNA and is sometimes also affected by the secondary or tertiary mRNA structure. It has been described mainly in VIRUSES (especially RETROVIRUSES); RETROTRANSPOSONS; and bacterial insertion elements but also in some cellular genes.

Year introduced: 1996

4.

hepatitis C protein F, Hepatitis C virus [Supplementary Concept]

a 17-kDa protein produced by a ribosomal frameshift mechanism at the open reading frame that overlaps the core gene in the +1 frame; amino acid sequence in first source

Date introduced: August 20, 2001

5.

Pallister-Hall Syndrome

A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.

Year introduced: 2009

6.

INDEL Mutation

A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.

Year introduced: 2008

7.

PA-X protein, influenza A virus [Supplementary Concept]

a frameshift product consisting of PA protein's endonuclease domain and the C-terminal domain of a second open reading frame (X-ORF)

Date introduced: July 29, 2012

8.

fibrinogen Matsumoto VII [Supplementary Concept]

has a frameshift mutation at codo 387 of gamma-chain

Date introduced: November 30, 2010

9.

hemoglobin Sainte Seve [Supplementary Concept]

results from the frameshift mutation at codon 118 (-T)

Date introduced: December 21, 2005

10.

Y2b protein, mouse [Supplementary Concept]

lacks receptor activity due to frameshift mutation

Date introduced: August 6, 2004

11.

hemoglobin Trento [Supplementary Concept]

a frameshift mutation where nucleotide A is deleted from codon 144

Date introduced: September 10, 2003

12.

fibrinogen San Giovanni Rotondo [Supplementary Concept]

alanine replaced with alanine frameshift stop at position 499 of alpha chain

Date introduced: July 10, 2002

13.

UPF3A protein, human [Supplementary Concept]

RefSeq NM_023011

Date introduced: September 25, 2001

14.

factor V Stanford [Supplementary Concept]

mutation caused by a 4 base insertion at NT 2856, results in a frameshift with loss of a thrombin activation site

Date introduced: January 21, 2000

15.

PD 128483 [Supplementary Concept]

structure given in first source; a potential antipsychotic drug candidate found to be a potent frameshift mutagen

Date introduced: May 6, 1992

16.

spectrin Nice [Supplementary Concept]

contains an insertional frameshift mutation of the spectrin gene associated with elliptocytosis; results in spectrin with a shortened beta chain

Date introduced: August 17, 1991

17.

hemoglobin Geneva [Supplementary Concept]

change in codon 114 from CTG(Leu) to -GG that results in a frameshift and the presumed synthesis of an abnormal beta chain that is 156 residues long with a completely different C-terminal amino acid sequence

Date introduced: September 9, 1988

18.

hemoglobin Wayne [Supplementary Concept]

an alpha-globin frameshift mutant

Date introduced: June 21, 1984

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