Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P36551: Variant p.Lys404Glu

Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
Gene: CPOX
Feedback?
Variant information Variant position: help 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Lysine (K) to Glutamate (E) at position 404 (K404E, p.Lys404Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from large size and basic (K) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HARPO. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 454 The length of the canonical sequence.
Location on the sequence: help 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         WQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLT

Mouse                         WQQLRRGRYVEFNLLYDRGTKFGLFTPGSRIESILMSLPLT

Rat                           WQQLRRGRYVEFNLVYDRGTKFGLFTPGSRIESILMSLPLT

Drosophila                    WQLLRRGRYVEFNLIYDRGTKFGLYTPGARYESILMSLPLH

Slime mold                    YQLYRRSRYVEFNLLFDRGTKFGILSEG-RTESILMSLPAV

Baker's yeast                 WQAIRRGRYVEFNLIYDRGTQFGLRTPGSRVESILMSLPEH

Fission yeast                 FQLIRRGYYAEFNVMYDRGTWFGLQAPEPRVESILMTLPLH
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
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 HARPO 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.