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UniProtKB/Swiss-Prot P11245: Variant p.Arg197Gln

Arylamine N-acetyltransferase 2
Gene: NAT2
Chromosomal location: 8p22
Variant information

Variant position:  197
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Glutamine (Q) at position 197 (R197Q, p.Arg197Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Polymorphism:  Polymorphisms in NAT2 are the cause of slow and fast acetylation phenotypes [MIM:243400] and influence drug therapy response and susceptibility to chemical toxicity or carcinogenicity.
Additional information on the polymorphism described.

Variant description:  In allele NAT2*5E, allele NAT2*6A, allele NAT2*6B, allele NAT2*6C, allele NAT2*6D and allele NAT2*14D; a slow acetylator.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



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--LEPRTIEDFESMNTY-------LQTSPTSSF

Rhesus macaque                NSDLLPKTTHQKV---YSFT--LEPRKIEDFESMNTY----

Mouse                         NSDLLEKNKYRKI---YSFT--LEPRTIEDFESMNTY----

Rat                           NSDLLEKNKYRKI---YSFT--LEPRTIEDFESINTY----

Rabbit                        NSELLEKKIYQKL---YCFT--LQPRTIEEFESANTY----

Chicken                       APHNVDKEVCRRV---YLFT--LQPRDIEEFRARNLH----

Slime mold                    KPDSFSPESARLWTNGYAFDPLVKAIDIDENDKIDSHATQI

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.

TypePositionsDescription
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 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; ARG-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 ARG-268;

Submission
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;

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]; VARIANT GLN-197;

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.