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 |