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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60683: Variant p.Cys296Phe

Peroxisome biogenesis factor 10
Gene: PEX10
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Variant information Variant position: help 296 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Cysteine (C) to Phenylalanine (F) at position 296 (C296F, p.Cys296Phe). 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 polar (C) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 PBD6A. Any additional useful information about the variant.


Sequence information Variant position: help 296 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 326 The length of the canonical sequence.
Location on the sequence: help CLEERRHPTATPCGHLFCWE C ITAWCSSKAECPLCREKFPP 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                         CLEERRHPTATPCGHLFCWECITAWC--------SSKAECPLCREKFPP

Mouse                         CLEERRHSTATPCGHLFCWECITEWC--------NTKTECP

Caenorhabditis elegans        CLENK-NPSALFCGHLFCWTCIQEHAVAATSSASTSSARCP

Slime mold                    CLEVRTHTTATICGHLFCWHCITEWC--------NNKEQCP

Baker's yeast                 CLMNMSDPSCAPCGHLFCWSCLMSWC--------KERPECP

Fission yeast                 CMEFIHCPAATECGHIFCWSCINGWT--------SKKSECP
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 – 326 Peroxisome biogenesis factor 10
Topological domain 237 – 326 Cytoplasmic
Zinc finger 273 – 311 RING-type
Binding site 276 – 276
Binding site 288 – 288
Binding site 290 – 290
Binding site 293 – 293
Binding site 296 – 296
Binding site 307 – 307
Binding site 310 – 310
Mutagenesis 310 – 310 C -> G. Abolished E3 ubiquitin-protein ligase activity.



Literature citations
Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation.
Havali C.; Dorum S.; Akbas Y.; Goeruekmez O.; Hirfanoglu T.;
J. Pediatr. Endocrinol. Metab. 33:437-441(2020)
Cited for: VARIANT PBD6A PHE-296;
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.