UniProtKB/Swiss-Prot P18440: Variant p.Ser214Ala

Arylamine N-acetyltransferase 1
Gene: NAT1
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Variant information Variant position:

214 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 Serine (S) to Alanine (A) at position 214 (S214A, p.Ser214Ala). 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 small size and polar (S) to small size and hydrophobic (A) 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:

N-acetylation polymorphism is determined by a low or high NAT activity in liver and has been implicated in the action and toxicity of amine-containing drugs. Slow acetylation genotypes have been associated with significant lung cancer risk. Candidate risk factor for susceptibility to neural tube defects. The NAT1*10 allele has been associated with increased risk of colon and urinary bladder cancers and with higher levels of N-acetyltransferase activity and DNA adducts in aromatic amine tumor target organs such as colon and urinary bladder (PubMed:7585580). Additional information on the polymorphism described.
Variant description:

In allele NAT1*11. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs4986783 [ dbSNP | Ensembl ]

Sequence information Variant position:

214 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:

LKPRTIEDFESMNTYLQTSP S SVFTSKSFCSLQTPDGVHCL 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                         LKPRTI---------EDFESMNTYLQTSPSSVFT---SKSFC----------SLQTPDGVHCL

Mouse                         LEPRVI---------EDFEYVNSYLQTSPASVFV---STSF

Rat                           LEPRTI---------EDFEYVNTYLQTSPASVFV---STSF

Bovine                        LEPRTI---------KDFESVNTYLQESPASVFT---SKSF

Rabbit                        LQPRTI---------EEFESANTYLQISPSSPFL---DKSI

Chicken                       LEPRTV---------EDFCFQCTYLQTSPDSLFT---KKSI

Slime mold                    FDPLLICKNDGDDDDDDNNNNNNTHQTQIQQLVIDDPNKDF

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 1
Binding site	208 – 208
Binding site	214 – 214

Literature citations
Structural heterogeneity of Caucasian N-acetyltransferase at the NAT1 gene locus.
Vatsis K.P.; Weber W.W.;
Arch. Biochem. Biophys. 301:71-76(1993)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS NAT1*11 ILE-149 AND ALA-214; Identification of a novel allele at the human NAT1 acetyltransferase locus.
Doll M.A.; Jiang W.; Deitz A.C.; Rustan T.D.; Hein D.W.;
Biochem. Biophys. Res. Commun. 233:584-591(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS NAT1*11 ILE-149 AND ALA-214; Homo sapiens arylamine N-acetyltransferase type 1 (NAT1) gene, allele NAT1*11B.
Johnson N.; Sim E.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-149 AND ALA-214; 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-149 AND ALA-214; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-149 AND ALA-214;

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.