Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.3.1.5 extracted from

  • Teixeira, R.L.; Miranda, A.B.; Pacheco, A.G.; Lopes, M.Q.; Fonseca-Costa, J.; Rabahi, M.F.; Melo, H.M.; Kritski, A.L.; Mello, F.C.; Suffys, P.N.; Santos, A.R.
    Genetic profile of the arylamine N-acetyltransferase 2 coding gene among individuals from two different regions of Brazil (2007), Mutat. Res., 624, 31-40.
    View publication on PubMed
Search for more literature for 2.3.1.5

Application

Application Comment Organism
medicine genetic profile of the NAT2 gene in individuals from two different regions of Brazil: Rio de Janeiro and Goi´as States is examined in 404 individuals: 13 previously described SNPs are detected in these Brazilian populations, from which seven are the most frequent in other populations. Upon allele and genotype analysis, the most frequent NAT2 alleles are respectively NAT2*5B (33%), NAT2*6A (26%) and NAT2*4 (20%) being NAT2*5/*5 the more prevalent genotype (31.7%). Results demonstrate the predominance in the studied Brazilian groups of NAT2 alleles associated with slow over the fast and intermediate acetylator genotypes. Additionally, in Rio de Janeiro, a significantly higher frequency of intermediate acetylation status is found when compared to Goi´as (42.5% versus 25%),demonstrating that different regions of a country with a population characterized by a multi-ethnic ancestry may present a large degree of variability in NAT2 allelic frequencies Homo sapiens
medicine the evaluation of the NAT2 gene in Brazilians subjects demonstrated a considerable prevalence of slow acetylatots and established a basis for further investigations Homo sapiens

Protein Variants

Protein Variants Comment Organism
E203D 609T, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
G286E 857A, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
I114T 341C, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
K268R 803G, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
L135V 403G, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
L24I 70A, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
additional information 282T, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect silent, amino acid change none Homo sapiens
additional information 345T, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect silent, amino acid change none Homo sapiens
additional information 481T, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect silent, amino acid change none Homo sapiens
P228L 683T, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
R197Q 590A, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
R64Q 191A, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens
V280M 838A, single nucleotide polymorphism, point mutation in the arylamine N-acetyltransferase 2 gene, effect missense Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
 Homo sapiens
-

Synonyms

Synonyms Comment Organism
arylamine N-acetyltransferase 2
-
 Homo sapiens
NAT2
-
 Homo sapiens