Variant position: 272 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 PHAPTIHFNYRYFEVEEADG N-KQWWFGGGCDLTPTYLNQED
Mouse PYAPTMHFNYRYFEVEEADG N-THWWFGGGCDLTPTYLNQE
Rat PYAPTMHFNYRYFEVEEADG K-MHWWFGGGCDLTPTYLNRE
Drosophila PHVPTIHFNYRYFEVETAKG E-KQWWFGGGTDLTPYYLCEK
Slime mold PNVPTIHMNVRYFEAG---- --DVWWFGGGVDLTPVYPKLD
Baker's yeast PHAPTTHLNYRYFETWNQDG TPQTWWFGGGADLTPSYLYEE
Fission yeast PMAPTTHLNYRYFELVNSDG K-KIWWFGGGADLTPSILFEE
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
258 – 258 Proton donor
272 – 287 NKQWWFGGGCDLTPTY -> KGLRSYGKYCRAKCAF. In isoform 2.
Molecular cloning, sequencing, and functional expression of a cDNA encoding human coproporphyrinogen oxidase.
Martasek P.; Camadro J.-M.; Delfau-Larue M.H.; Dumas J.B.; Montagne J.J.; de Verneuil H.; Labbe P.; Grandchamp B.;
Proc. Natl. Acad. Sci. U.S.A. 91:3024-3028(1994)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 101-454 (ISOFORM 1); VARIANT HIS-272; FUNCTION; CATALYTIC ACTIVITY;
Characterization and expression of cDNA encoding coproporphyrinogen oxidase from a patient with hereditary coproporphyria.
Fujita H.; Kondo M.; Taketani S.; Nomura N.; Furuyama K.; Akagi R.; Nagai T.; Terajima M.; Galbraith R.A.; Sassa S.;
Hum. Mol. Genet. 3:1807-1810(1994)
Cited for: VARIANT HCP SER-189; VARIANTS HIS-272 AND ILE-294;
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