Variant position: 331 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 LYPKFKKWCDDYFFIAHRGE RRGIGGIFFDDLDSPSKEEVF
Mouse IYPKFKKWCDDYFFIVHRGE RRGIGGIFFDDLDSPSKEEAF
Rat IYPKFKKWCDDYFFIAHRGE RRGIGGIFFDDLDSPSKEEAF
Drosophila YYPRFKKWCDDYFRIKHRNE SRGIGGIFFDDIDSPNQEAAF
Slime mold SYALGKAECDSYFFLPHRGE TRGVGGLFFDHLKS-DKAKTW
Baker's yeast LYPRFKKWCDEYFYITHRKE TRGIGGIFFDDYDERDPQEIL
Fission yeast FYPRFKKWADEYFLIKHRKE TRGIGGIFFDDLSEKDPQELF
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.
330 – 342
Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.
Martasek P.; Nordmann Y.; Grandchamp B.;
Hum. Mol. Genet. 3:477-480(1994)
Cited for: INVOLVEMENT IN HCP; VARIANT HCP TRP-331;
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;
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