UniProtKB/Swiss-Prot O60218: Variant p.Asn313Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 313 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 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.

• Variant rs4728329 [ dbSNP | Ensembl ]

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.

Type	Positions	Description
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];