Gene Product Variation Site

Known as: AMINO ACID SUBSTITUTION POINT, Protein Substitution Site, Substituted Amino Acid 
The amino acid position that is substituted in a gene product variant.
National Institutes of Health

Papers overview

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2010
2010
Labyrinthopeptins: a new class of carbacyclic lantibiotics.
Lantibiotics are peptides that are ribosomally synthesized from bacteria such as staphylococci, lactobacilli, and actinomycetes… (More)
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Review
2004
Review
2004
Positive and negative allosteric modulation of metabotropic glutamate receptors: emerging therapeutic potential.
Metabotropic glutamate receptors (mGluRs) modulate neuronal activity in the central and peripheral nervous systems, and since… (More)
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Highly Cited
2003
Highly Cited
2003
BRAF and KRAS mutations in stomach cancer
Ras proteins control signaling pathways that are key regulators of several aspects of normal cell growth and malignant… (More)
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Highly Cited
1999
Highly Cited
1999
A molecular basis for the different local anesthetic affinities of resting versus open and inactivated states of the sodium channel.
Voltage-gated sodium channels are inhibited by local anesthetic drugs. This inhibition has complex voltage- and frequency… (More)
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1999
1999
Determinants of nucleotide sugar recognition in an archaeon DNA polymerase.
Vent DNA polymerase normally discriminates strongly against incorporation of ribonucleotides, 3'-deoxyribonucleotides (such as… (More)
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Highly Cited
1998
Highly Cited
1998
Exploiting the basis of proline recognition by SH3 and WW domains: design of N-substituted inhibitors.
Src homology 3 (SH3) and WW protein interaction domains bind specific proline-rich sequences. However, instead of recognizing… (More)
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Highly Cited
1998
Highly Cited
1998
Novel mutations in the thiazide-sensitive NaCl cotransporter gene in patients with Gitelman syndrome with predominant localization to the C-terminal domain.
Gitelman syndrome (familial hypokalemia-hypomagnesemia syndrome) is an autosomal recessive inherited renal disorder characterized… (More)
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Highly Cited
1994
Highly Cited
1994
Genetic drift in hypervariable region 1 of the viral genome in persistent hepatitis C virus infection.
The hypervariable region 1 (HVR1) of the putative second envelope glycoprotein (gp70) of hepatitis C virus (HCV) contains a… (More)
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Highly Cited
1993
Highly Cited
1993
Nitrilase in biosynthesis of the plant hormone indole-3-acetic acid from indole-3-acetonitrile: cloning of the Alcaligenes gene and site-directed mutagenesis of cysteine residues.
Indole-3-acetic acid is the major auxin in most plants. In Cruciferae, including Brassicaceae, indole-3-acetic acid is… (More)
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1988
1988
Enhanced protein thermostability from designed mutations that interact with alpha-helix dipoles.
Two different genetically engineered amino-acid substitutions designed to interact with alpha-helix dipoles in T4 lysozyme are… (More)
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