Variant position: 812 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 980 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 ARAAAPCIIFFDELDSLAPS RGRSGDSGGVMDRVVSQLLAE
Mouse ARAAAPCIIFFDELDSLAPS RGRSGDSGGVMDRVVSQLLAE
Rat ARAAAPCIIFFDELDSLAPS RGRSGDSGGVMDRVVSQLLAE
Slime mold ARQAKPCVIFFDELDSLAPS RGNGADSGGVMDRVVSQLLAE
Baker's yeast AREAKPCVIFFDEIDSVAPK RGNQGDSGGVMDRIVSQLLAE
Fission yeast ARNSSPCVIFFDELDSIAPH RGNSSDSGNVMDRVVSQLLAE
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 – 980 Peroxisome assembly factor 2
739 – 980 Missing. In isoform 2.
Genomic structure and identification of 11 novel mutations of the PEX6 'peroxisome assembly factor-2' gene in patients with peroxisome biogenesis disorders.
Zhang Z.; Suzuki Y.; Shimozawa N.; Fukuda S.; Imamura A.; Tsukamoto T.; Osumi T.; Fujiki Y.; Orii T.; Wanders R.J.A.; Barth P.G.; Moser H.W.; Paton B.C.; Besley G.T.; Kondo N.;
Hum. Mutat. 13:487-496(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PBD4A GLN-812 AND TRP-812;
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.