UniProtKB/Swiss-Prot P11245: Variant p.Arg197Gln

Arylamine N-acetyltransferase 2
Gene: NAT2
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Variant information Variant position:

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

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

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.

Variant rs1799930 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
Chain	1 – 290	Arylamine N-acetyltransferase 2
Binding site	208 – 208
Binding site	214 – 214

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.