Sequence information
Variant position: 286 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:
VLRNIFKISLGRNLVPKPGD
G SLTI
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 VLRNIFKISLGRNLVPKPGDG SLTI
Rhesus macaque VLKNIFKISLGRKLVPKPGNG SFTI
Mouse VLRTIFGVSLERKLVPKHGDR FFTI
Rat VLKTIFGVSLERKLVPKHGDR FFTI
Rabbit VLKTIFNISLGKKLVSKNGHL SFTI
Chicken TLKEKFNITLDKKFVPINTSR LSLF
Slime mold HLISIFNLP-PLKFLPK---- ---I
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
287 – 287
Coenzyme A
Beta strand
285 – 288
Literature citations
Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver.
Ohsako S.; Deguchi T.;
J. Biol. Chem. 265:4630-4634(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LYS-268 AND GLU-286;
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
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;
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.