Sequence information
Variant position: 280 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:
NYRYFEVEEADGNKQWWFGG
G CDLTPTYLNQEDAVHFHRTL
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 NYRYFEVEEADGN-KQWWFGGG CDLTPTYLNQEDAVHFHRTL
Mouse NYRYFEVEEADGN-THWWFGGG CDLTPTYLNQEDAVHFHRT
Rat NYRYFEVEEADGK-MHWWFGGG CDLTPTYLNREDAVHFHRT
Drosophila NYRYFEVETAKGE-KQWWFGGG TDLTPYYLCEKDASHFHQT
Slime mold NVRYFEAG------DVWWFGGG VDLTPVYPKLDQVVEFHST
Baker's yeast NYRYFETWNQDGTPQTWWFGGG ADLTPSYLYEEDGQLFHQL
Fission yeast NYRYFELVNSDGK-KIWWFGGG ADLTPSILFEEDGKHFHKL
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
Alternative sequence
272 – 287
NKQWWFGGGCDLTPTY -> KGLRSYGKYCRAKCAF. In isoform 2.
Beta strand
273 – 284
Literature citations
A novel missense mutation in exon 4 of the human coproporphyrinogen oxidase gene in two patients with hereditary coproporphyria.
Daimon M.; Gojyou E.; Sugawara M.; Yamatani K.; Tominaga M.; Sasaki H.;
Hum. Genet. 99:199-201(1997)
Cited for: VARIANT HCP ARG-280;
Disclaimer:
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