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UniProtKB/Swiss-Prot O60218: Variant p.Asn313Asp

Aldo-keto reductase family 1 member B10
Gene: AKR1B10
Variant information

Variant position:  313
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 Asparagine (N) to Aspartate (D) at position 313 (N313D, p.Asn313Asp).
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 (N) to medium size and acidic (D)
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

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



Sequence information

Variant position:  313
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  316
The length of the canonical sequence.

Location on the sequence:   NRNWRACNVLQSSHLEDYPF  N AEY
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.

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 – 316 Aldo-keto reductase family 1 member B10
Mutagenesis 299 – 299 C -> S. Decreased affinity and reduced catalytic activity towards 4-hydroxynonenal.
Mutagenesis 301 – 301 V -> L. Reduced catalytic activity towards all-trans-retinaldehyde.
Helix 311 – 313


Literature citations

Identification and characterization of a novel human aldose reductase-like gene.
Cao D.; Fan S.T.; Chung S.S.M.;
J. Biol. Chem. 273:11429-11435(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASP-313; FUNCTION; TISSUE SPECIFICITY; INDUCTION;

Representational difference analysis based identification and full-length sequencing of a gene of the aldo-ketoreductase family strongly overexpressed in hepatocellular carcinoma.
Heringlake S.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASP-313;

Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASP-313;

Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Ebert L.; Schick M.; Neubert P.; Schatten R.; Henze S.; Korn B.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASP-313;

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]; VARIANT ASP-313;

New member of aldose reductase family proteins overexpressed in human hepatocellular carcinoma.
Scuric Z.; Stain S.C.; Anderson W.F.; Hwang J.-J.;
Hepatology 27:943-950(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 232-316; VARIANT ASP-313;

Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ASP-313; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];

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.