Variant position: 295 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 WWFGGGCDLTPTYLNQEDAV HFHRTLKEACDQHGP----DLYPKF
Mouse WWFGGGCDLTPTYLNQEDAV HFHRTLKEACDQHGP----DI
Rat WWFGGGCDLTPTYLNREDAV HFHRTLKEACDQHGP----DI
Drosophila WWFGGGTDLTPYYLCEKDAS HFHQTLKSACDEHDP----TY
Slime mold WWFGGGVDLTPVYPKLDQVV EFHSTLKKVCDQYGQEENKTS
Baker's yeast WWFGGGADLTPSYLYEEDGQ LFHQLHKDALDKHDT----AL
Fission yeast WWFGGGADLTPSILFEEDGK HFHKLHKEACDRHDP----TF
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
288 – 454 Missing. In isoform 2.
290 – 305
Three novel mutations in the coproporphyrinogen oxidase gene.
Lamoril J.; Deybach J.-C.; Puy H.; Grandchamp B.; Nordmann Y.;
Hum. Mutat. 9:78-80(1997)
Cited for: VARIANTS HCP 162-GLN--ALA-168 DEL AND ASP-295;
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