Variant position: 397 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 LEASGCVLSQELFQQRAQEA AATQLGLKEMPSHC---LVHLHKN
Mouse LKAAGHQLSPELFQQQAQEA AATQLGLKEPPSHC---LVHL
Bovine LEARGCVLSQELLQQEAEKA AATQLGLNEPPSHC---LVHL
Slime mold TNT-----SKDKLLDIALKH LDKVLDIESSPDFT---NVSI
Baker's yeast HGVPVVP-SREVTINAVKDA LNNHLGISNKDLEAGQWEFTI
Fission yeast KNTSLIPTNPEEAVNNALKA LQHTLKISSKPTLT---NATL
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
386 – 401
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;
Novel human pathological mutations. Gene symbol: PPOX. Disease: porphyria, variegate.
Ausenda S.; Moriondo V.; Marchini S.; Besana V.; Di Pierro E.; Brancaleoni V.; Ventura P.; Rocchi E.; Cappellini M.D.;
Hum. Genet. 125:344-344(2009)
Cited for: VARIANT VP ASP-397;
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