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:
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 WQQLRRGRYVEFNLLYDRGT KFGLFTPGSRIESILMSLPLT
Mouse WQQLRRGRYVEFNLLYDRGT KFGLFTPGSRIESILMSLPLT
Rat WQQLRRGRYVEFNLVYDRGT KFGLFTPGSRIESILMSLPLT
Drosophila WQLLRRGRYVEFNLIYDRGT KFGLYTPGARYESILMSLPLH
Slime mold YQLYRRSRYVEFNLLFDRGT KFGILSEG-RTESILMSLPAV
Baker's yeast WQAIRRGRYVEFNLIYDRGT QFGLRTPGSRVESILMSLPEH
Fission yeast FQLIRRGYYAEFNVMYDRGT WFGLQAPEPRVESILMTLPLH
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
392 – 428 Important for dimerization
404 – 404 N6-acetyllysine; alternate
404 – 404 N6-succinyllysine; alternate
288 – 454 Missing. In isoform 2.
392 – 418 Missing. Loss for dimerization.
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;
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