Sequence information
Variant position: 197 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:
NSHLLPKKKHQKIYLFTLEP
R TIEDFESMNTYLQTSPTSSF
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 NSHLLPKKKHQKI---YLFT--LEPR TIEDFESMNTY-------LQTSPTSSF
Rhesus macaque NSDLLPKTTHQKV---YSFT--LEPR KIEDFESMNTY----
Mouse NSDLLEKNKYRKI---YSFT--LEPR TIEDFESMNTY----
Rat NSDLLEKNKYRKI---YSFT--LEPR TIEDFESINTY----
Rabbit NSELLEKKIYQKL---YCFT--LQPR TIEEFESANTY----
Chicken APHNVDKEVCRRV---YLFT--LQPR DIEEFRARNLH----
Slime mold KPDSFSPESARLWTNGYAFDPLVKAI DIDENDKIDSHATQI
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
Chain
1 – 290
Arylamine N-acetyltransferase 2
Binding site
208 – 208
Coenzyme A
Binding site
214 – 214
Coenzyme A
Literature citations
Sequences and expression of alleles of polymorphic arylamine N-acetyltransferase of human liver.
Deguchi T.;
J. Biol. Chem. 267:18140-18147(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE NAT2*6D); VARIANTS GLN-197; LYS-268 AND GLU-286;
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; LYS-268 AND GLU-286;
Submission
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 LYS-268;
Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-24; GLN-64; THR-114; GLN-197; LEU-228; LYS-268 AND GLU-286;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS GLN-197 AND LYS-268;
Disclaimer:
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.