UniProtKB/SwissProt variant VAR

Variant information

Variant position:

142

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 Alanine (A) to Threonine (T) at position 142 (A142T, p.Ala142Thr).

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 hydrophobic (A) to medium size and polar (T)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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

Other resources:

Links to websites of interest for the variant.

Variant rs1043657 [ dbSNP | Ensembl ]

Sequence information

Variant position:

142

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

Protein sequence length:

359

The length of the canonical sequence.

Location on the sequence:

QLETSLKRLQCPQVDLFYLH A PDHGTPVEETLHACQRLHQE

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                         QLETSLKRLQCPQVDLFYLHAPDHGTPVEETLHACQRLHQE

Mouse                         QLETSLKRLQCPRVDLFYLHAPDHSTPVEETLRACHQLHQE

Rat                           QLETSLKRLQCPRVDLFYLHAPDHGTPIVETLQACQQLHQE

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 – 359	Aflatoxin B1 aldehyde reductase member 2
Binding site	141 – 141	Substrate
Modified residue	128 – 128	N6-acetyllysine

Literature citations

Molecular cloning, expression and catalytic activity of a human AKR7 member of the aldo-keto reductase superfamily: evidence that the major 2-carboxybenzaldehyde reductase from human liver is a homologue of rat aflatoxin B1-aldehyde reductase.
Ireland L.S.; Harrison D.J.; Neal G.E.; Hayes J.D.;
Biochem. J. 332:21-34(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 5-359; PARTIAL PROTEIN SEQUENCE; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANT THR-142;

Genetic variation of aflatoxin B1 aldehyde reductase genes (AFAR) in human tumour cells.
Praml C.; Schulz W.; Claas A.; Mollenhauer J.; Poustka A.; Ackermann R.; Schwab M.; Henrich K.-O.;
Cancer Lett. 272:160-166(2008)
Cited for: VARIANTS THR-142 AND HIS-157;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43488: Variant p.Ala142Thr