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Items: 9

1.

Mutation, Missense

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King and Stansfield, 5th ed)

Year introduced: 1999

2.

Optic Atrophy, Hereditary, Leber

A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))

Year introduced: 2002

3.

Amino Acid Substitution

The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.

Year introduced: 1998

4.

Point Mutation

A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.

Year introduced: 1993

5.

ND5 protein, human [Supplementary Concept]

NADH-Ubiquinone Oxidoreductase subunit; missense mutation in the mitochondrial ND5 gene is associated with a Leigh-MELAS overlap syndrome; amino acid sequence in first source

Date introduced: February 23, 2004

6.

factor VIII Ise [Supplementary Concept]

an abnormal factor VIII with a missense mutation at Arg(2159) to Cys which modifies the antigenicity of the C2 domain

Date introduced: August 13, 1997

7.

antithrombin Morioka [Supplementary Concept]

Cys 95 replaced by Arg; a missense mutation causing type I antithrombin deficiency

Date introduced: May 19, 1997

8.

FtsE protein, E coli [Supplementary Concept]

Cell division ATP-binding protein; conditionally lethal missense substitutions in this protein are similar to those found in the cystic fibrosis transmembrane conductance regulatory protein (CFTR) of human patients; partial amino acid sequence given in first source; homologous proteins found in other bacterial species

Date introduced: September 5, 1992

9.

glucose-6-phosphate dehydrogenase Herlev [Supplementary Concept]

missense mutation exon 6, c. 592 C to A, causing Arg198Ser substitution

Date introduced: February 2, 2016

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