Variant position: 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 290 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human CGQAMELGLEAIFDHIVRRN RGGWCLQVNQLLYWALTTIGF
Rhesus macaque CGEAMELGLETIFDHIVRRN RGGWCLQVNQLLYWALTTIGF
Mouse CGESMELSLEAIFDQIVRKK RGGWCLQVNHLLYWALTKLGF
Rat CGESMELNLEVIFDQVVRKK RGGWCLQVNHLLYWALTKMGF
Rabbit CGESMELDLEAIFDQIVRRN RGGWCLQVNYLLYWALTTTGF
Chicken CGETIELDLAATYDKIVRKK RGGWCMENNHLLSWALKTLGY
Slime mold ANTTEPLNREVIIQQLVNNK QGGLCYKINSVFYYFIKSFGF
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 290 Arylamine N-acetyltransferase 2
68 – 68 Acyl-thioester intermediate
Cloning, expression, and functional characterization of two mutant (NAT2(191) and NAT2(341/803)) and wild-type human polymorphic N-acetyltransferase (NAT2) alleles.
Ferguson R.J.; Doll M.A.; Rustan T.D.; Gray K.; Hein D.W.;
Drug Metab. Dispos. 22:371-376(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES NAT2*5C AND NAT2*14); VARIANTS GLN-64; THR-114 AND ARG-268;
Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.
Patin E.; Barreiro L.B.; Sabeti P.C.; Austerlitz F.; Luca F.; Sajantila A.; Behar D.M.; Semino O.; Sakuntabhai A.; Guiso N.; Gicquel B.; McElreavey K.; Harding R.M.; Heyer E.; Quintana-Murci L.;
Am. J. Hum. Genet. 78:423-436(2006)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-24; GLN-64; THR-114; MET-193; GLN-197; HIS-208; ARG-268 AND GLU-286;
Leff M.A.; Doll M.A.; Feng Y.; Fretland A.J.; Hein D.W.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELES NAT2*5D; NAT2*6D; NAT2*14G); VARIANTS GLN-64; THR-114; GLN-197 AND ARG-268;
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-24; GLN-64; THR-114; GLN-197; LEU-228; ARG-268 AND GLU-286;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.