Variant position: 326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 403 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 QQ-PKVRGWLLASL-DGQTTGL IPANYVKILGKRK------------------------------------------GRKTVESS
Mouse QQ-PKVRGWLLASL-DGQTTGL IPANYVKILGKRR------
Bovine QQ-PRVRGWLLASL-DGQTTGL IPANYVKILGKRR------
Caenorhabditis elegans EQ-PRVRGWLLASVADGSRIGL VPINYVRIVGKQS------
Slime mold HD-----NWWVGEC-NGL-SGF FPVDFTEKISPNDINNNNN
Baker's yeast DPLGRDSDWWKVRTKNGN-IGY IPYNYIEIIKRRK------
Fission yeast DTQGNPCEWWQGRKRSGE-TGW FPSNYCSIISR--------
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 – 403 Peroxisomal membrane protein PEX13
252 – 403 Cytoplasmic
272 – 336 SH3
PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders.
Liu Y.; Bjoerkman J.; Urquhart A.; Wanders R.J.A.; Crane D.I.; Gould S.J.;
Am. J. Hum. Genet. 65:621-634(1999)
Cited for: VARIANT PBD11B THR-326;
Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.
Shimozawa N.; Suzuki Y.; Zhang Z.; Imamura A.; Toyama R.; Mukai S.; Fujiki Y.; Tsukamoto T.; Osumi T.; Orii T.; Wanders R.J.A.; Kondo N.;
Hum. Mol. Genet. 8:1077-1083(1999)
Cited for: INVOLVEMENT IN PBD11A; VARIANT PBD11B THR-326;
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.