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Literature summary for 2.3.1.5 extracted from

  • Walraven, J.M.; Trent, J.O.; Hein, D.W.
    Structure-function analyses of single nucleotide polymorphisms in human N-acetyltransferase 1 (2008), Drug Metab. Rev., 40, 169-184.
    View publication on PubMedView publication on EuropePMC

Protein Variants

Protein Variants Comment Organism
D122N single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR Homo sapiens
E167K single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in maximum activity Homo sapiens
G286E single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in maximum activity Homo sapiens
I114T single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in both N- and O-acetyltransferase catalytic activitiy Homo sapiens
K268R single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR Homo sapiens
K282T single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR Homo sapiens
L137F single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR Homo sapiens
Q145P single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in both N- and O-acetyltransferase catalytic activitiy Homo sapiens
R197Q single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in both N- and O-acetyltransferase catalytic activitiy. Reduction in maximum activity Homo sapiens
R64Q single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in both N- and O-acetyltransferase catalytic activitiy Homo sapiens
R64W single nucleotide polymorphism, evaluation of functional effect based on crystal strucutre, PDB 2PFR. Reduction in both N- and O-acetyltransferase catalytic activitiy Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P11245 isoform NAT2
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