Sequence information
Variant position: 404 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:
WQQLRRGRYVEFNLLYDRGT
K FGLFTPGSRIESILMSLPLT
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 WQQLRRGRYVEFNLLYDRGTK FGLFTPGSRIESILMSLPLT
Mouse WQQLRRGRYVEFNLLYDRGTK FGLFTPGSRIESILMSLPLT
Rat WQQLRRGRYVEFNLVYDRGTK FGLFTPGSRIESILMSLPLT
Drosophila WQLLRRGRYVEFNLIYDRGTK FGLYTPGARYESILMSLPLH
Slime mold YQLYRRSRYVEFNLLFDRGTK FGILSEG-RTESILMSLPAV
Baker's yeast WQAIRRGRYVEFNLIYDRGTQ FGLRTPGSRVESILMSLPEH
Fission yeast FQLIRRGYYAEFNVMYDRGTW FGLQAPEPRVESILMTLPLH
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
Region
392 – 428
Important for dimerization
Modified residue
404 – 404
N6-acetyllysine; alternate
Modified residue
404 – 404
N6-succinyllysine; alternate
Alternative sequence
288 – 454
Missing. In isoform 2.
Mutagenesis
392 – 418
Missing. Loss for dimerization.
Literature citations
A molecular defect in coproporphyrinogen oxidase gene causing harderoporphyria, a variant form of hereditary coproporphyria.
Lamoril J.; Martasek P.; Deybach J.-C.; da Silva V.; Grandchamp B.; Nordmann Y.;
Hum. Mol. Genet. 4:275-278(1995)
Cited for: VARIANT HCP GLU-404;
Disclaimer:
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.