Variant position: 327 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:
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 HGP----DLYPKFKKWCDDYFFIA HRGERRGIGGIFFDDLDSPSK
Mouse HGP----DIYPKFKKWCDDYFFIV HRGERRGIGGIFFDDLD
Rat HGP----DIYPKFKKWCDDYFFIA HRGERRGIGGIFFDDLD
Drosophila HDP----TYYPRFKKWCDDYFRIK HRNESRGIGGIFFDDID
Slime mold YGQEENKTSYALGKAECDSYFFLP HRGETRGVGGLFFDHLK
Baker's yeast HDT----ALYPRFKKWCDEYFYIT HRKETRGIGGIFFDDYD
Fission yeast HDP----TFYPRFKKWADEYFLIK HRKETRGIGGIFFDDLS
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
111 – 454 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
327 – 327 Important for dimerization
288 – 454 Missing. In isoform 2.
326 – 328
Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R.
Hasanoglu A.; Balwani M.; Kasapkara C.S.; Ezgue F.S.; Okur I.; Tuemer L.; Cakmak A.; Nazarenko I.; Yu C.; Clavero S.; Bishop D.F.; Desnick R.J.;
J. Inherit. Metab. Dis. 34:225-231(2011)
Cited for: INVOLVEMENT IN HARPO; VARIANT HARPO ARG-327;
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