Variant position: 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 359 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 MKTVCPLCRKTRVNDTVLAT SGYVFCYRCVFHYVRSHQA-CP
Mouse MKTVCPLCRKTRVNDTVLAT SGYVFCYRCVFNYVRSHQA-C
Rat MKTVCPLCRKARVNDTVLAT SGYVFCYRCVFNYVRSHQA-C
Bovine MKTVCPLCRKNRVNDTVLAT SGYVFCYRCVFHYVRSHQA-C
Caenorhabditis elegans DTNKCPICLKKRVNDTALFV SGYVFCYTCINQYVNTYNK-C
Drosophila QRGECPVCLLSIQTPTACSV SGYVFCWKCIVSHMKEHGT-C
Slime mold DKRLCPLCLKERTNPTICG- SGFVFCYPCIFGYVNEHSK-C
Baker's yeast VSEACPVCEKTVQNPCVLE- TGYVACYPCAISYLVNNEGHC
Fission yeast --DICKICGEKIKNPAVLS- TGFVFCYPCIQVWLQRHPFKC
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 – 359 Peroxisome assembly protein 12
261 – 359 Cytoplasmic
304 – 343 RING-type; degenerate
304 – 304 C -> W. Abolishes interaction with PEX19; when associated with Q-307.
307 – 307 C -> Q. Abolishes interaction with PEX19; when associated with W-304.
PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import.
Chang C.C.; Warren D.S.; Sacksteder K.A.; Gould S.J.;
J. Cell Biol. 147:761-774(1999)
Cited for: VARIANT PBD3B PHE-320; CHARACTERIZATION OF VARIANT PBD3B PHE-320; INTERACTION WITH PEX5 AND PEX10;
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: VARIANTS PBD-CG3 SER-34; GLN-178 DEL AND GLN-349 DEL; VARIANT PBD3B PHE-320; VARIANT ILE-245;
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.