Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43933: Variant p.Gly843Asp

Peroxisomal ATPase PEX1
Gene: PEX1
Feedback?
Variant information Variant position: help 843 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 Glycine (G) to Aspartate (D) at position 843 (G843D, p.Gly843Asp). 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 glycine (G) to medium size and acidic (D) 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 PBD1A, PBD1B and PBD-CG1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 843 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1283 The length of the canonical sequence.
Location on the sequence: help PASLRSVNLHKPRDLGWDKI G GLHEVRQILMDTIQLPAKYP 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                         PASLRSVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYP

Mouse                         PASLRNVNLHKPRDLGWDKIGGLHEVRQILMDTIQLPAKYP

Slime mold                    PITLKGIKLHSS-EIKWQDIGGLDSVRAMLKETIEWPTKYP

Baker's yeast                 PSALRGVKLTKETNIKWGDIGALANAKDVLLETLEWPTKYE

Fission yeast                 PLQLRKAKFVKS-SIRWIDIAGMQEAKEAVRDIIESPVKYS

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 – 1283 Peroxisomal ATPase PEX1



Literature citations
Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders.
Portsteffen H.; Beyer A.; Becker E.; Epplen C.; Pawlak A.; Kunau W.-H.; Dodt G.;
Nat. Genet. 17:449-452(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT PBD1A/PBD1B ASP-843; Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
Reuber B.E.; Germain-Lee E.; Collins C.S.; Morrell J.C.; Ameritunga R.; Moser H.W.; Valle D.; Gould S.J.;
Nat. Genet. 17:445-448(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1); VARIANT PBD1A ASP-843; VARIANT PBD1B ASP-843; Human PEX1 cloned by functional complementation on a CHO cell mutant is responsible for peroxisome-deficient Zellweger syndrome of complementation group I.
Tamura S.; Okumoto K.; Toyama R.; Shimozawa N.; Tsukamoto T.; Suzuki Y.; Osumi T.; Kondo N.; Fujiki Y.;
Proc. Natl. Acad. Sci. U.S.A. 95:4350-4355(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS PBD1A 634-GLY--HIS-690 DEL; PRO-664 AND ASP-843; VARIANTS PBD1B 634-GLY--HIS-690 DEL; PRO-664 AND ASP-843; Phenotype-genotype relationships in peroxisome biogenesis disorders of PEX1-defective complementation group 1 are defined by Pex1p-Pex6p interaction.
Tamura S.; Matsumoto N.; Imamura A.; Shimozawa N.; Suzuki Y.; Kondo N.; Fujiki Y.;
Biochem. J. 357:417-426(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; VARIANT PBD1B ASP-843; Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.
Yik W.Y.; Steinberg S.J.; Moser A.B.; Moser H.W.; Hacia J.G.;
Hum. Mutat. 30:E467-E480(2009)
Cited for: INVOLVEMENT IN PBD-CG1; VARIANTS PBD-CG1 ARG-590; ARG-593; GLY-798; ASP-843; PRO-1008 DEL AND GLU-1237; VARIANTS MET-696 AND GLN-948;
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.