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UniProtKB/Swiss-Prot P11245: Variant p.Lys268Arg

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

Variant position:  268
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 Lysine (K) to Arginine (R) at position 268 (K268R, p.Lys268Arg).
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:  Similar physico-chemical property. Both residues are large size and basic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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*5B, allele NAT2*5C, allele NAT2*5F, allele NAT2*6C, allele NAT2*12A, allele NAT2*14B, allele NAT2*14C, allele NAT2*14E, allele NAT2*14F and allele NAT2*14G.
Any additional useful information about the variant.

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



Sequence information

Variant position:  268
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:   DNTDLVEFKTLTEEEVEEVL  K NIFKISLGRNLVPKPGDGSL
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                         DNTDLV-----EFKTLTEEEVEEVLKNIFKISLGRNLVPKPGDGSL

Rhesus macaque                DNTDLI-----EFKTLIEEEVEEVLKNIFKISLGRKLVPKP

Mouse                         DNVDLV-----EFKSLTEEEIEDVLRTIFGVSLERKLVPKH

Rat                           DNIDLV-----EFKSLTEEEIEDVLKTIFGVSLERKLVPKH

Rabbit                        ENTDLV-----EFKVLTEEEVEGVLKTIFNISLGKKLVSKN

Chicken                       DNMDLV-----EIRILADEEMEKTLKEKFNITLDKKFVPIN

Slime mold                    EKTKVTFDINNEIKQL--EQFNQHLISIFNLP-PLKFLPK-

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 287 – 287 Coenzyme A
Helix 260 – 269


Literature citations

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;

Submission
Doll M.A.; Satran S.L.; Hein D.W.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ALLELE NAT2*12A); VARIANT ARG-268;

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;

A novel allele showing linkage with 282, 341, 481, 803 point mutations in the NAT2 gene.
Pillai A.A.; Banerjee M.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-114 AND ARG-268;

A novel NAT2 allele with point mutations 341, 481, 803, 859 in the ethnic populations of Kerala.
Pillai A.A.; Banerjee M.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-114 AND ARG-268;

Submission
Doll M.A.; Zang Y.; Yeager M.; Welch R.; Chanock S.; Hein D.W.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-114; ASN-122; PHE-137 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;

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.