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Mutation, Missense definition: 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 & Stansfield, 5th ed)
Missense Mutation definition: A mutation in which a base change results in substitution of one amino acid for another. This change may result in alteration of the protein's activity or stability.
Silent Mutation definition: A mutation that alters the DNA sequence, but encodes the same amino acid.
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A missense mutation in PMEL17 is associated with the Silver coat color in the horse

Emma Brunberg et al.

BMC Genetics , 09 Oct 2006

A missense mutation in LIM2 causes autosomal recessive congenital cataract

Surya Prakash G. Ponnam et al.

Molecular Vision , 23 Jun 2008

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

Shaohua Tang et al.

BMC Medical Genetics , 31 Dec 2007

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

Natacha Dreumont et al.

BMC Genetics , 29 Jun 2001

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.

B Levinson et al.

Nucleic Acids Research , 10 Dec 1987

The missense mutation in Abcg5 gene in spontaneously hypertensive rats (SHR) segregates with phytosterolemia but not hypertension

Jianliang Chen et al.

BMC Genetics , 18 Jul 2005

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650)

Jian Wang et al.

Lipids in Health and Disease , 20 Sep 2007

Suppression of a double missense mutation by a mutant tRNA(Phe) in Escherichia coli.

D Pages et al.

Nucleic Acids Research , 25 Feb 1991

Missense Mutation in Exon 2 of SLC36A1 Responsible for Champagne Dilution in Horses

Deborah Cook et al.

PLoS Genetics , 01 Sep 2008

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

Joaquim Calado et al.

BMC Medical Genetics , 27 Jan 2005

62 further publications >>