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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60683: Variant p.His290Gln

Peroxisome biogenesis factor 10
Gene: PEX10
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Variant information Variant position: help 290 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 Histidine (H) to Glutamine (Q) at position 290 (H290Q, p.His290Gln). 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 Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 PBD6B; neonatal adrenoleukodystrophy; abolished E3 ubiquitin-protein ligase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 290 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 NPLCTLCLEERRHPTATPCG H LFCWECITAWCSSKAECPLC 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                         NP----LCTLCLEERRHPTATPCGHLFCWECITAWC--------SSKAECPLC

Mouse                         TP----LCTLCLEERRHSTATPCGHLFCWECITEWC-----

Caenorhabditis elegans        F-----QCSICLENK-NPSALFCGHLFCWTCIQEHAVAATS

Slime mold                    EEEEEQKCTLCLEVRTHTTATICGHLFCWHCITEWC-----

Baker's yeast                 IPEASRKCILCLMNMSDPSCAPCGHLFCWSCLMSWC-----

Fission yeast                 IPEGNRKCSLCMEFIHCPAATECGHIFCWSCINGWT-----

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 273 – 273
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 273 – 273 C -> A. Abolished E3 ubiquitin-protein ligase activity.
Mutagenesis 310 – 310 C -> G. Abolished E3 ubiquitin-protein ligase activity.



Literature citations
Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
Warren D.S.; Morrell J.C.; Moser H.W.; Valle D.; Gould S.J.;
Am. J. Hum. Genet. 63:347-359(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PBD6B GLN-290; Distinct modes of ubiquitination of peroxisome-targeting signal type 1 (PTS1) receptor Pex5p regulate PTS1 protein import.
Okumoto K.; Noda H.; Fujiki Y.;
J. Biol. Chem. 289:14089-14108(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; PATHWAY; IDENTIFICATION IN THE PEX2-PEX10-PEX12 RETROTRANSLOCATION CHANNEL; MUTAGENESIS OF CYS-273 AND CYS-310; VARIANT PBD6B GLN-290; CHARACTERIZATION OF VARIANT PBD6B GLN-290;
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.