Sequence information
Variant position: 279 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:
FNYRYFEVEEADGNKQWWFG
G GCDLTPTYLNQEDAVHFHRT
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 FNYRYFEVEEADGN-KQWWFGG GCDLTPTYLNQEDAVHFHRT
Mouse FNYRYFEVEEADGN-THWWFGG GCDLTPTYLNQEDAVHFHR
Rat FNYRYFEVEEADGK-MHWWFGG GCDLTPTYLNREDAVHFHR
Drosophila FNYRYFEVETAKGE-KQWWFGG GTDLTPYYLCEKDASHFHQ
Slime mold MNVRYFEAG------DVWWFGG GVDLTPVYPKLDQVVEFHS
Baker's yeast LNYRYFETWNQDGTPQTWWFGG GADLTPSYLYEEDGQLFHQ
Fission yeast LNYRYFELVNSDGK-KIWWFGG GADLTPSILFEEDGKHFHK
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
Alternative sequence
272 – 287
NKQWWFGGGCDLTPTY -> KGLRSYGKYCRAKCAF. In isoform 2.
Beta strand
273 – 284
Literature citations
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient.
Akagi R.; Inoue R.; Muranaka S.; Tahara T.; Taketani S.; Anderson K.E.; Phillips J.D.; Sassa S.;
Br. J. Haematol. 132:237-243(2006)
Cited for: VARIANT HCP ARG-279;
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.