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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50542: Variant p.Asn526Lys

Peroxisomal targeting signal 1 receptor
Gene: PEX5
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Variant information Variant position: help 526 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 Asparagine (N) to Lysine (K) at position 526 (N526K, p.Asn526Lys). 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 (N) to large size and basic (K) 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 PBD2B; neonatal adrenoleukodystrophy; strongly affects peroxisomal protein import containing a C-terminal PTS1-type targeting signal without affecting import of proteins with a PTS2 targeting signal. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 526 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 639 The length of the canonical sequence.
Location on the sequence: help KAVDCFTAALSVRPNDYLLW N KLGATLANGNQSEEAVAAYR 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                         KAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYR

Mouse                         KAVDCFTAALSVRPNDYLMWNKLGATLANGNQSEEAVAAYR

Rat                           KAVDCFTAALSVRPNDYLLWNKLGATLANGNQSEEAVAAYR

Bovine                        KAVDCFTAALSVRPDDYLLWNKLGATLANGNQSEEAVAAYR

Chicken                       KAVDCFSAALSVRPNDHLLWNKLGATLANGNRSEEAVAAYR

Xenopus laevis                KAVDCFTAALGQRPDDYLLWNKLGATLANGNDSEAAVEAYR

Slime mold                    KAVDCFKAALQNSPTDYQLWNKLGATLANSNRSQEALGAYF

Baker's yeast                 KTIDCFESALRVNPNDELMWNRLGASLANSNRSEEAIQAYH

Fission yeast                 RSADCFRQALQDEPSNEILWNKLGAALTNAEKNTEAVSSYN
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 – 639 Peroxisomal targeting signal 1 receptor
Repeat 522 – 555 TPR 6
Cross 527 – 527 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis 527 – 527 K -> A. Does not affect monoubiquitination by TRIM37.
Mutagenesis 527 – 527 K -> R. Does not affect PEX5 recycling.
Helix 522 – 534



Literature citations
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
Dodt G.; Braverman N.; Wong C.; Moser A.; Moser H.W.; Watkins P.; Valle D.; Gould S.J.;
Nat. Genet. 9:115-125(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); INVOLVEMENT IN PBD2A; VARIANTS PBD2B 427-ARG--GLN-639 DEL AND LYS-526; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.
Braverman N.; Dodt G.; Gould S.J.; Valle D.;
Hum. Mol. Genet. 7:1195-1205(1998)
Cited for: FUNCTION (ISOFORM 1); CHARACTERIZATION OF VARIANTS PBD2B 427-ARG--GLN-639 DEL AND LYS-526; Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients.
Shimozawa N.; Zhang Z.; Suzuki Y.; Imamura A.; Tsukamoto T.; Osumi T.; Fujiki Y.; Orii T.; Barth P.G.; Wanders R.J.; Kondo N.;
Biochem. Biophys. Res. Commun. 262:504-508(1999)
Cited for: VARIANTS PBD2B LYS-526 AND TRP-600; CHARACTERIZATION OF VARIANTS PBD2B LYS-526 AND TRP-600;
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.