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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UKT5: Variant p.Pro13Ser

F-box only protein 4
Gene: FBXO4
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Variant information Variant position: help 13 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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: help From Proline (P) to Serine (S) at position 13 (P13S, p.Pro13Ser). 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: help 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: help -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

Variant description: help In esophagus cancer sample. Any additional useful information about the variant.


Sequence information Variant position: help 13 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 387 The length of the canonical sequence.
Location on the sequence: help MAGSEPRSGTNS P PPPFSDWGRLEAAILSGWKT 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         MAGSEPRSGTNSPPPPFSDWGRLEAAILSGWKT

Mouse                         MAGSEPRGAGS--PPPASDWGRLEAAILSGWRT

Bovine                        MAGSDPGSRGSSPQPPHSDWGRLEAAFLSGWRN

Sequence annotation in neighborhood: help 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 – 387 F-box only protein 4
Modified residue 12 – 12 Phosphoserine
Mutagenesis 12 – 12 S -> A. Reduces homodimerization. Reduces ubiquitination of CCND1.
Mutagenesis 12 – 12 S -> E. No effect on homodimerization.
Mutagenesis 13 – 13 P -> A. Reduces homodimerization.
Mutagenesis 23 – 23 L -> A. Abolishes homodimerization.



Literature citations
Mutations in Fbx4 inhibit dimerization of the SCF(Fbx4) ligase and contribute to cyclin D1 overexpression in human cancer.
Barbash O.; Zamfirova P.; Lin D.I.; Chen X.; Yang K.; Nakagawa H.; Lu F.; Rustgi A.K.; Diehl J.A.;
Cancer Cell 14:68-78(2008)
Cited for: FUNCTION; SUBUNIT; PATHWAY; INTERACTION WITH SKP1; MUTAGENESIS OF SER-12; PRO-13 AND LEU-23; PHOSPHORYLATION AT SER-12; VARIANTS ARG-8; LEU-12; SER-13; GLN-23 AND THR-76; CHARACTERIZATION OF VARIANTS LEU-12; SER-13 AND GLN-23;
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.