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UniProtKB/Swiss-Prot Q13608: Variant p.Gly413Val

Peroxisome assembly factor 2
Gene: PEX6
Chromosomal location: 6p21.1
Variant information

Variant position:  413
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Valine (V) at position 413 (G413V, p.Gly413Val).
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 glycine (G) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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

Involvement in disease:  Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). {ECO:0000269|PubMed:19105186, ECO:0000269|PubMed:21937992, ECO:0000269|PubMed:26593283}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PBD-CG4; disease phenotype includes hearing loss, visual impairment, enamel dysplasia microcephaly with deep white matter changes and developmental delay.
Any additional useful information about the variant.

Sequence information

Variant position:  413
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  980
The length of the canonical sequence.

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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.


Mouse                         PEG--PASAFLADTTHTSLYLAGTALSHVP-------SLPS

Rat                           PDG--PASAFLADTTHTSLYLAGTTLSRVP-------PLPS


Baker's yeast                 FSK--DNSHFIIDPNRTKLITTNITNRR---------PLPL

Fission yeast                 -DPLNTYNIYYTNEDTSIVLDTQLSHR----------LLPS

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.

Chain 1 – 980 Peroxisome assembly factor 2

Literature citations

PEX6 is expressed in photoreceptor cilia and mutated in deafblindness with enamel dysplasia and microcephaly.
Zaki M.S.; Heller R.; Thoenes M.; Nuernberg G.; Stern-Schneider G.; Nuernberg P.; Karnati S.; Swan D.; Fateen E.; Nagel-Wolfrum K.; Mostafa M.I.; Thiele H.; Wolfrum U.; Baumgart-Vogt E.; Bolz H.J.;
Hum. Mutat. 37:170-174(2016)

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.