Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 477 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 QAEGRWKVSLRDSSL----EADHV ISAIPASVLSELL--PAEAAPLA
Mouse QPEGRWKVSLGDSSL----EADHI ISAIPASELSKLL--PA
Bovine QAEGRWKVSLEDSSL----EADHI ISAIPASVLSKLL--PA
Slime mold DVTNG-TLKVTDNKGNQY-QYDQL ISTIPLNQLAPMF--KK
Baker's yeast RPANETTIGLKAKSGDQYETFDHL RLTITPPKIAKLL--PK
Fission yeast HK----TQSLVDVNGQ---AYEYV VFANSSRNLENLISCPK
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
1 – 477 Protoporphyrinogen oxidase
284 – 284 S -> I. Decreases enzyme activity by 87%. Impairs protein folding and/or stability.
290 – 290 V -> L. No effect on enzyme activity.
276 – 284
Structural insight into human variegate porphyria disease.
Qin X.; Tan Y.; Wang L.; Wang Z.; Wang B.; Wen X.; Yang G.; Xi Z.; Shen Y.;
FASEB J. 25:653-664(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) IN COMPLEX WITH FAD AND ACIFLUORFEN; CATALYTIC ACTIVITY; FUNCTION; SUBUNIT; CHARACTERIZATION OF VARIANTS VP ASP-11; THR-12; PHE-15; PRO-20; PRO-38; ALA-40; GLU-40; TRP-59; PRO-73; GLY-84; PRO-85; PRO-106; PRO-138; ASP-139; VAL-143; CYS-152; PRO-154; MET-158; HIS-168; VAL-178; VAL-205; CYS-217; GLY-224; ARG-232; ASP-282; ASN-283; PRO-295; ARG-330; ALA-332; GLY-335; CYS-348; ALA-349; PRO-350; ARG-358; ASP-397; PHE-401; PRO-433; PRO-444; ARG-448; PRO-450 AND ARG-453; MUTAGENESIS OF LEU-74; ARG-97; LEU-166; GLY-169; SER-284; VAL-290; PHE-331; LEU-334; VAL-347 AND MET-368;
Genetic analysis of variegate porphyria (VP) in Italy: identification of six novel mutations in the protoporphyrinogen oxidase (PPOX) gene.
D'Amato M.; Bonuglia M.; Barile S.; Griso D.; Macri A.; Biolcati G.;
Hum. Mutat. 21:448-448(2003)
Cited for: VARIANT VP ASN-283;
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