Sequence information
Variant position: 197 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:
SVDRWERKEGGGGISCVLQD
G CVFEKAGVSISVVHGNLSEE
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 SVDRWERK-EGGGGISCVLQ------------------DG CVFEKAGVSISVVHG-NLSEE
Mouse TVDRWERK-EGGGGITCVLQ------------------DG R
Rat SVDRWERK-EGGGGITCVLQ------------------DG R
Drosophila KVDRWERP-EGGGGITCVLQ------------------DG D
Slime mold SEDKWDYTKGSGGGISRVWEGKEEEGFYLNQDYQSQNNKC D
Baker's yeast HADTWTRGNDGGGGTSMVIQ------------------DG T
Fission yeast FQDKWTKG-EGGYGISCVIQ------------------DG N
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
193 – 202
Important for dimerization
Literature citations
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update.
Rosipal R.; Lamoril J.; Puy H.; da Silva V.; Gouya L.; de Rooij F.W.M.; Te Velde K.; Nordmann Y.; Martasek P.; Deybach J.-C.;
Hum. Mutat. 13:44-53(1999)
Cited for: VARIANTS HCP TRP-197; GLY-390 DEL AND ARG-427;
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.