UniProtKB/SwissProt variant VAR

Variant information

Variant position:

589

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 Proline (P) to Serine (S) at position 589 (P589S, p.Pro589Ser).

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 hydrophobic (P) to small size and polar (S)

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

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.

Variant description:

In allele TF*C2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1049296 [ dbSNP | Ensembl ]

Sequence information

Variant position:

589

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:

WAKNLNEKDYELLCLDGTRK P VEEYANCHLARAPNHAVVTR

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	20 – 698	Serotransferrin
Domain	361 – 683	Transferrin-like 2
Metal binding	604 – 604	Fe(3+) 2
Disulfide bond	358 – 615
Disulfide bond	421 – 693
Disulfide bond	437 – 656
Disulfide bond	493 – 684
Disulfide bond	582 – 596
Beta strand	587 – 589

Literature citations

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

Human transferrin (Tf): a single mutation at codon 570 determines Tf C1 or Tf C2 variant.
Namekata K.; Oyama F.; Imagawa M.; Ihara Y.;
Hum. Genet. 100:457-458(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 564-624; VARIANTS TF*C2 AND SER-589;

Human transferrin G277S mutation: a risk factor for iron deficiency anaemia.
Lee P.L.; Halloran C.; Trevino R.; Felitti V.; Beutler E.;
Br. J. Haematol. 115:329-333(2001)
Cited for: VARIANTS SER-277; SER-589 AND GLU-671; CHARACTERIZATION OF VARIANT SER-277;

Identification of 96 single nucleotide polymorphisms in eight genes involved in iron metabolism: efficiency of bioinformatic extraction compared with a systematic sequencing approach.
Douabin-Gicquel V.; Soriano N.; Ferran H.; Wojcik F.; Palierne E.; Tamim S.; Jovelin T.; McKie A.T.; Le Gall J.-Y.; David V.; Mosser J.;
Hum. Genet. 109:393-401(2001)
Cited for: VARIANTS SER-277 AND SER-589;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P02787: Variant p.Pro589Ser