UniProtKB/Swiss-Prot P18440: Variant p.Arg117Thr

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

117 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 Threonine (T) at position 117 (R117T, p.Arg117Thr). 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 (T) 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*5. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs55641436 [ dbSNP | Ensembl ]

Sequence information Variant position:

117 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:

PAKKYSTGMIHLLLQVTIDG R NYIVDAGFGRSYQMWQPLEL 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                         PA-KKYSTGMIHLLLQVTIDGRNYIVDAGFGRSYQMWQPLEL

Mouse                         PV-SKYSSEMVHLLVQVTISDRKYIVDSAYGGSYQMWEPLE

Rat                           PV-NKYSSEMVHLLVQVTISDRNYIVDSAYGSSYQMWEPLE

Bovine                        FN-DKYSSAMIHLLLKVTIDGRDYIADAGFGRSYQMWQPLE

Rabbit                        HT-DKYSTGMIHLIVQVTINGRNYIVDAGFGRSYQMWQPVE

Chicken                       HE-NAYATIMTHLLVKVVIEGKAYIVDAGFGVSYQMWQPME

Slime mold                    ESHSRWNIGHGHMINILNFENKLYVMDVAFGCNLSL-RPVP

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
Active site	107 – 107
Active site	122 – 122
Binding site	103 – 103
Binding site	104 – 104
Beta strand	117 – 121

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 NAT1*5 THR-117 AND 166-ARG-GLU-167 DELINS THR-GLN;

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.