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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60683: Variant p.Arg311Gln

Peroxisome biogenesis factor 10
Gene: PEX10
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Variant information Variant position: help 311 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 Arginine (R) to Glutamine (Q) at position 311 (R311Q, p.Arg311Gln). 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 large size and basic (R) to medium size and polar (Q) 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 PBD6B. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 311 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 LFCWECITAWCSSKAECPLC R EKFPPQKLIYLRHYR 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                         LFCWECITAWC--------SSKAECPLCREKFPPQKLIYLRHYR

Mouse                         LFCWECITEWC--------NTKTECPLCREKFPPQK

Caenorhabditis elegans        LFCWTCIQEHAVAATSSASTSSARCPQCRLEFQPRD

Slime mold                    LFCWHCITEWC--------NNKEQCPVCRCPISIRT

Baker's yeast                 LFCWSCLMSWC--------KERPECPLCRQHCQPQE

Fission yeast                 IFCWSCINGWT--------SKKSECPLCRAFSSPSK
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 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
Mutations in PEX10 are a cause of autosomal recessive ataxia.
Regal L.; Ebberink M.S.; Goemans N.; Wanders R.J.; De Meirleir L.; Jaeken J.; Schrooten M.; Van Coster R.; Waterham H.R.;
Ann. Neurol. 68:259-263(2010)
Cited for: VARIANTS PBD6B 244-ARG--ARG-326 DEL AND GLN-311; Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.
Renaud M.; Guissart C.; Mallaret M.; Ferdinandusse S.; Cheillan D.; Drouot N.; Muller J.; Claustres M.; Tranchant C.; Anheim M.; Koenig M.;
J. Neurol. 263:1552-1558(2016)
Cited for: VARIANTS PBD6B 244-ARG--ARG-326 DEL; PHE-276 AND GLN-311;
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.