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UniProtKB/Swiss-Prot P02787: Variant p.Ile448Val

Serotransferrin
Gene: TF
Variant information

Variant position:  448
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 Isoleucine (I) to Valine (V) at position 448 (I448V, p.Ile448Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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

Polymorphism:  Different polymorphic variants of transferrin are known. The sequence shown is the predominant electrophoretic variant (C1 or TF*C1).
Additional information on the polymorphism described.

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



Sequence information

Variant position:  448
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  698
The length of the canonical sequence.

Location on the sequence:   AENYNKSDNCEDTPEAGYFA  I AVVKKSASDLTWDNLKGKKS
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 20 – 698 Serotransferrin
Domain 361 – 683 Transferrin-like 2
Metal binding 445 – 445 Iron 2
Glycosylation 432 – 432 N-linked (GlcNAc...) (complex) asparagine
Disulfide bond 358 – 615
Disulfide bond 421 – 693
Disulfide bond 437 – 656
Beta strand 445 – 452


Literature citations

Human transferrin: cDNA characterization and chromosomal localization.
Yang F.; Lum J.B.; McGill J.R.; Moore C.M.; Naylor S.L.; van Bragt P.H.; Baldwin W.D.; Bowman B.H.;
Proc. Natl. Acad. Sci. U.S.A. 81:2752-2756(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS TF*B2; TF*CHI; TF*D1 AND VAL-448;

A cloned gene for human transferrin.
Hershberger C.L.; Larson J.L.; Arnold B.; Rosteck P.R. Jr.; Williams P.; Dehoff B.; Dunn P.; O'Neal K.L.; Riemen M.W.; Tice P.A.;
Ann. N. Y. Acad. Sci. 646:140-154(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT VAL-448;

Molecular characterization of a case of atransferrinemia.
Beutler E.; Gelbart T.; Lee P.L.; Trevino R.; Fernandez M.A.; Fairbanks V.F.;
Blood 96:4071-4074(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-448 AND ATRAF PRO-477;

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ARG-55; SER-277; GLY-296; VAL-448 AND SER-589;

Submission
NHLBI resequencing and genotyping service (RS&G);
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-448;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT VAL-448;

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 VAL-448;

The primary structure of human serum transferrin. The structures of seven cyanogen bromide fragments and the assembly of the complete structure.
McGillivray R.T.A.; Mendez E.; Shewale J.G.; Sinha S.K.; Lineback-Zins J.; Brew K.;
J. Biol. Chem. 258:3543-3553(1983)
Cited for: PROTEIN SEQUENCE OF 20-698; VARIANT VAL-448;

Organization of the human transferrin gene: direct evidence that it originated by gene duplication.
Park I.; Schaeffer E.; Sidoli A.; Baralle F.E.; Cohen G.N.; Zakin M.M.;
Proc. Natl. Acad. Sci. U.S.A. 82:3149-3153(1985)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 73-698; VARIANT VAL-448;

Functional prediction of the coding sequences of 33 new genes deduced by analysis of cDNA clones from human fetal liver.
Zhang C.; Yu Y.; Zhang S.; Wei H.; Zhou G.; Bi J.; Zhang Y.; Liu M.; He F.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 99-698; VARIANT VAL-448;

Submission
Lubec G.; Vishwanath V.; Chen W.-Q.; Sun Y.;
Cited for: PROTEIN SEQUENCE OF 108-121; 259-273; 332-343; 374-384; 434-452; 454-464; 495-508; 531-541; 577-600 AND 684-696; IDENTIFICATION BY MASS SPECTROMETRY; VARIANT VAL-448;

Molecular cloning and sequence analysis of cDNA for human transferrin.
Uzan G.; Frain M.; Park I.; Besmond C.; Maessen G.; Trepat J.S.; Zakin M.M.; Kahn A.;
Biochem. Biophys. Res. Commun. 119:273-281(1984)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 422-698; VARIANT VAL-448;

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] VAL-448; 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.