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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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2007
2007
Identification of amino acid residues at the active site of endosialidase that dissociate the polysialic acid binding and cleaving activities in Escherichia coli K1 bacteriophages.
Endosialidase (endo-N-acetylneuraminidase) is a tailspike enzyme of bacteriophages specific for human pathogenic Escherichia coli… 
2003
2003
A de novo R589C mutation of anion exchanger 1 causing distal renal tubular acidosis
Anion exchanger 1 (AE1 or SLC4A1) mutations have been reported to cause distal renal tubular acidosis (dRTA), a disease… 
Highly Cited
2001
Highly Cited
2001
Probing the Mechanism of Inactivation of Human Pyruvate Dehydrogenase by Phosphorylation of Three Sites*
Activity of the mammalian pyruvate dehydrogenase complex (PDC) is regulated by phosphorylation-dephosphorylation of three serine… 
Highly Cited
1997
Highly Cited
1997
Design, synthesis, and biological activities of four angiotensin II receptor ligands with gamma-turn mimetics replacing amino acid residues 3-5.
Disulfide cyclization is a powerful method for reducing the conformational space of a peptide. This in turn may enable the study… 
1995
1995
Functional consequences of proline mutations in the putative transmembrane segments 6 and 10 of the glucose transporter GLUT1.
Proline residues are thought to play a characteristic structural and/or dynamic role in various membrane proteins [Williams, K.A… 
Highly Cited
1994
Highly Cited
1994
Antigenic alteration of an anomalous human luteinizing hormone caused by two chorionic gonadotropin-type amino-acid substitutions.
We analyzed the nucleotide sequence of the luteinizing hormone beta subunit (LH beta) in a patient with an anomalous LH. This… 
Highly Cited
1993
Highly Cited
1993
Thermostabilization of firefly luciferase by a single amino acid substitution at position 217.
Random mutagenesis of the luciferase cDNA from "Genji" firefly, Luciola cruciata, was induced by hydroxylamine in an attempt to… 
1992
1992
Studies on the role of amino acids 38-45 in the expression of a functional thyrotropin receptor.
We previously reported that deletion or substitution of a unique eight-amino acid tract (residues 38-45) in the extracellular… 
1988
1988
Resolution of alpha-substituted amino acid enantiomers by high-performance liquid chromatography after derivatization with a chiral adduct of o-phthalaldehyde. Application to glutamic acid analogues.
Highly Cited
1965
Highly Cited
1965
Map positions and specificities of suppressor mutations in Escherichia coli K-12.
suppressor mutation (“suppressor”) can be defined as a mutation which A reverses the phenotypic effects of a second (“primary… 
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