Variant position: 843 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1283 The length of the canonical sequence.
Location on the 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.
Human PASLRSVNLHKPRDLGWDKI GGLHEVRQILMDTIQLPAKYP
Mouse PASLRNVNLHKPRDLGWDKI GGLHEVRQILMDTIQLPAKYP
Slime mold PITLKGIKLHSS-EIKWQDI GGLDSVRAMLKETIEWPTKYP
Baker's yeast PSALRGVKLTKETNIKWGDI GALANAKDVLLETLEWPTKYE
Fission yeast PLQLRKAKFVKS-SIRWIDI AGMQEAKEAVRDIIESPVKYS
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.
Type Positions Description
1 – 1283 Peroxisome biogenesis factor 1
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); 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;
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