Variant position: 232 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 367 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 QALQLFESHAGHLGPQLFNK FALPYIRDVAKQVKARLREAG
Mouse QALQLFESHAGHLGTELFSK FALPYIRDVAKRVKAGLQKAG
Sheep QALQLFESHAGHLGPQLFSK FALPYIRDVSKRVKAGLQEAG
Zebrafish QALQVFESHTGCLGPVEFKE FSLPYLRDIARRVKDKIKESG
Drosophila QMLQVFESSAEHLSKEQFLQ WCVPYLKRIRDELVDRLTKKA
Slime mold QALQIFDSWSNELSPAMFKE YCLPYLVQIGKEVKAVHPE--
Baker's yeast QILQVFESWGGELSSVDFDE FSLPYLRQIAERVPKRLQELG
Fission yeast QLLQIFDSWAGELSPEDFTE YAYPYLVRICQEVKQHLKKKK
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.
Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips J.D.; Parker T.L.; Schubert H.L.; Whitby F.G.; Hill C.P.; Kushner J.P.;
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF VARIANTS FPCT ASP-156; LEU-232 AND THR-260; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; VARIANTS FPCT GLU-25; SER-80; GLN-134; ASP-156; ARG-165; LYS-167; PRO-193; LEU-232; GLN-253 AND THR-260; CHARACTERIZATION OF VARIANTS FPCT GLU-25; SER-80; GLN-134; ASP-156; ARG-165; LYS-167; PRO-193; LEU-232; GLN-253 AND THR-260;
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.