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:
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-KQWWFGG GCDLTPTYLNQEDAVHFHRTL
Mouse NYRYFEVEEADGN-THWWFGG GCDLTPTYLNQEDAVHFHRT
Rat NYRYFEVEEADGK-MHWWFGG GCDLTPTYLNREDAVHFHRT
Drosophila NYRYFEVETAKGE-KQWWFGG GTDLTPYYLCEKDASHFHQT
Slime mold NVRYFEAG------DVWWFGG GVDLTPVYPKLDQVVEFHST
Baker's yeast NYRYFETWNQDGTPQTWWFGG GADLTPSYLYEEDGQLFHQL
Fission yeast NYRYFELVNSDGK-KIWWFGG GADLTPSILFEEDGKHFHKL
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
272 – 287 NKQWWFGGGCDLTPTY -> KGLRSYGKYCRAKCAF. In isoform 2.
273 – 284
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;
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.