Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 305 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 SLEVKCSLCVVGIQALAEMD RWQEVLSWVLQYYQVPEKLPP
Mouse IVEVKCSLCVVGIQALAEMD RWREALSWVLRYYQVPEKLPP
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 – 305 Peroxisome assembly protein 26
1 – 246 Cytoplasmic
The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes.
Matsumoto N.; Tamura S.; Fujiki Y.;
Nat. Cell Biol. 5:454-460(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN PBD-CG8; INTERACTION WITH PEX1 AND PEX6; VARIANT PBD7B TRP-98;
Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation.
Matsumoto N.; Tamura S.; Furuki S.; Miyata N.; Moser A.; Shimozawa N.; Moser H.W.; Suzuki Y.; Kondo N.; Fujiki Y.;
Am. J. Hum. Genet. 73:233-246(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; TISSUE SPECIFICITY; INVOLVEMENT IN PBD-CG8; VARIANT PBD7A ARG-89; VARIANTS PBD7B PRO-45 AND TRP-98;
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-CG8; VARIANT PBD-CG8 TRP-98; VARIANT VAL-153;
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