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:
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-KQWWFG GGCDLTPTYLNQEDAVHFHRT
Mouse FNYRYFEVEEADGN-THWWFG GGCDLTPTYLNQEDAVHFHR
Rat FNYRYFEVEEADGK-MHWWFG GGCDLTPTYLNREDAVHFHR
Drosophila FNYRYFEVETAKGE-KQWWFG GGTDLTPYYLCEKDASHFHQ
Slime mold MNVRYFEAG------DVWWFG GGVDLTPVYPKLDQVVEFHS
Baker's yeast LNYRYFETWNQDGTPQTWWFG GGADLTPSYLYEEDGQLFHQ
Fission yeast LNYRYFELVNSDGK-KIWWFG GGADLTPSILFEEDGKHFHK
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
111 – 454 Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
272 – 287 NKQWWFGGGCDLTPTY -> KGLRSYGKYCRAKCAF. In isoform 2.
273 – 284
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;
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