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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60218: Variant p.Asn313Asp

Aldo-keto reductase family 1 member B10
Gene: AKR1B10
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Variant information Variant position: help 313
Type of variant: help LB/B
Residue change: help From Asparagine (N) to Aspartate (D) at position 313 (N313D, p.Asn313Asp).
Physico-chemical properties: help Change from medium size and polar (N) to medium size and acidic (D)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 313
Protein sequence length: help 316
Location on the sequence: help NRNWRACNVLQSSHLEDYPF N AEY
Sequence annotation in neighborhood: help
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.