Sequence information
Variant position: 328 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 454 The length of the canonical sequence.
Location on the sequence:
GPDLYPKFKKWCDDYFFIAH
R GERRGIGGIFFDDLDSPSKE
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 GP----DLYPKFKKWCDDYFFIAHR GERRGIGGIFFDDLDSPSKE
Mouse GP----DIYPKFKKWCDDYFFIVHR GERRGIGGIFFDDLDS
Rat GP----DIYPKFKKWCDDYFFIAHR GERRGIGGIFFDDLDS
Drosophila DP----TYYPRFKKWCDDYFRIKHR NESRGIGGIFFDDIDS
Slime mold GQEENKTSYALGKAECDSYFFLPHR GETRGVGGLFFDHLKS
Baker's yeast DT----ALYPRFKKWCDEYFYITHR KETRGIGGIFFDDYDE
Fission yeast DP----TFYPRFKKWADEYFLIKHR KETRGIGGIFFDDLSE
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
Chain
111 – 454
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Site
327 – 327
Important for dimerization
Alternative sequence
288 – 454
Missing. In isoform 2.
Helix
326 – 328
Literature citations
Two novel mutations and coexistence of the 991C>T and the 1339C>T mutation on a single allele in the coproporphyrinogen oxidase gene in Swedish patients with hereditary coproporphyria.
Wiman A.; Floderus Y.; Harper P.;
J. Hum. Genet. 47:407-412(2002)
Cited for: VARIANTS HCP PHE-208; CYS-328; TRP-331 AND CYS-447;
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.