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Missense Mutation

Known as: Substitution Mutation, Exon Non-Synonymous Mutation, 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… Expand
National Institutes of Health

Papers overview

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Review
2018
Review
2018
Heterozygous germline GATA2 mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series… Expand
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Review
2017
Review
2017
Mutations in the vacuolar protein sorting 35 ortholog (VPS35) gene encoding a core component of the retromer complex, have… Expand
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Highly Cited
2013
Highly Cited
2013
PolyPhen‐2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid… Expand
Highly Cited
1998
Highly Cited
1998
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and… Expand
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Highly Cited
1998
Highly Cited
1998
Mutations of the gene Lps selectively impede lipopolysaccharide (LPS) signal transduction in C3H/HeJ and C57BL/10ScCr mice… Expand
Highly Cited
1995
Highly Cited
1995
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence… Expand
Highly Cited
1991
Highly Cited
1991
A LOCUS segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21 (ref. 1), close to the amyloid… Expand
Highly Cited
1991
Highly Cited
1991
MARFAN syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It… Expand
Highly Cited
1990
Highly Cited
1990
A point mutation in exon 13 of the beta cardiac myosin heavy chain (MHC) gene is present in all individuals affected with… Expand
Highly Cited
1975
Highly Cited
1975
  • P. O'Farrell
  • The Journal of biological chemistry
  • 1975
  • Corpus ID: 6417862
A technique has been developed for the separation of proteins by two-dimensional polyacrylamide gel electrophoresis. Due to its… Expand
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