Sequence information
Variant position: 427 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:
LFTPGSRIESILMSLPLTAR
W EYMHSPSENSKEAEILEVLR
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 LFTPGSRIESILMSLPLTARW EYMHSPSENSKEAEILEVLR
Mouse LFTPGSRIESILMSLPLTARW EYMHSPPENSKEAEILEVLR
Rat LFTPGSRIESILMSLPLTARW EYMHSPPENSKEAEILEVLR
Drosophila LYTPGARYESILMSLPLHARW EYMHEPKSQSEEGKLMKVLK
Slime mold ILSEG-RTESILMSLPAVCKW KYNYKPEENTPEANLLTFLR
Baker's yeast LRTPGSRVESILMSLPEHASW LYNHHPAPGSREAKLLEVTT
Fission yeast LQAPEPRVESILMTLPLHASW RYKYEPKQERHKA-LLKVTH
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
Alternative sequence
288 – 454
Missing. In isoform 2.
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.