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UniProtKB/Swiss-Prot Q7Z412: Variant p.Arg98Trp

Peroxisome assembly protein 26
Gene: PEX26
Variant information

Variant position:  98
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Tryptophan (W) at position 98 (R98W, p.Arg98Trp).
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 large size and basic (R) to large size and aromatic (W)
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

Variant description:  In PBD7B and PBD-CG8; neonatal adrenoleukodystrophy; affects the interaction with PEX6.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   SLEVKCSLCVVGIQALAEMD  R WQEVLSWVLQYYQVPEKLPP
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                         SLEVKCSLCVVGIQALAEMDRWQEVLSWVLQYYQVPEKLPP

Mouse                         IVEVKCSLCVVGIQALAEMDRWREALSWVLRYYQVPEKLPP

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.

TypePositionsDescription
Chain 1 – 305 Peroxisome assembly protein 26
Topological domain 1 – 246 Cytoplasmic


Literature citations

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;

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.