Sequence information
Variant position: 201 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:
WERKEGGGGISCVLQDGCVF
E KAGVSISVVHGNLSEEAAKQ
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 WERK-EGGGGISCVLQ------------------DGCVFE KAGVSISVVHG-NLSEEAAKQ
Mouse WERK-EGGGGITCVLQ------------------DGRVFE K
Rat WERK-EGGGGITCVLQ------------------DGRVFE K
Drosophila WERP-EGGGGITCVLQ------------------DGDVFE K
Slime mold WDYTKGSGGGISRVWEGKEEEGFYLNQDYQSQNNKCDKIE K
Baker's yeast WTRGNDGGGGTSMVIQ------------------DGTTFE K
Fission yeast WTKG-EGGYGISCVIQ------------------DGNVFE K
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
Beta strand
198 – 213
Literature citations
Hereditary coproporphyria: exon screening by heteroduplex analysis detects three novel mutations in the coproporphyrinogen oxidase gene.
Schreiber W.E.; Zhang X.; Senz J.; Jamani A.;
Hum. Mutat. 10:196-200(1997)
Cited for: VARIANTS HCP LYS-201 AND SER-249;
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.