UniProtKB/SwissProt variant VAR

Variant information

Variant position:

323

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 Threonine (T) to Alanine (A) at position 323 (T323A, p.Thr323Ala).

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

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 rs1738025 [ dbSNP | Ensembl ]

Sequence information

Variant position:

323

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

Protein sequence length:

331

The length of the canonical sequence.

Location on the sequence:

EEGPLEPAVVDAFNQAWHLV T HECPNYFR

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                         EEGPLEPAVVDAFNQAWHLVTHECPNYFR

Rat                           EEGPLEPAVVDAFDQAWNLVAHECPNYFR

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 – 331	Aflatoxin B1 aldehyde reductase member 3
Helix	323 – 325

Literature citations

cDNA cloning, expression and activity of a second human aflatoxin B1-metabolizing member of the aldo-keto reductase superfamily, AKR7A3.
Knight L.P.; Primiano T.; Groopman J.D.; Kensler T.W.; Sutter T.R.;
Carcinogenesis 20:1215-1223(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; CHARACTERIZATION; VARIANTS MET-138; ASP-215 AND ALA-323;

Aflatoxin B1 aldehyde reductase (AFAR) genes cluster at 1p35-1p36.1 in a region frequently altered in human tumour cells.
Praml C.; Savelyeva L.; Schwab M.;
Oncogene 22:4765-4773(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS ASP-215 AND ALA-323;

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 MET-138; ASP-215 AND ALA-323;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95154: Variant p.Thr323Ala