Variant position: 229 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 AGAQALQLFESHAGHLGPQL FNKFALPYIRDVAKQVKARLR
Mouse AGAQALQLFESHAGHLGTEL FSKFALPYIRDVAKRVKAGLQ
Sheep AGAQALQLFESHAGHLGPQL FSKFALPYIRDVSKRVKAGLQ
Zebrafish AGAQALQVFESHTGCLGPVE FKEFSLPYLRDIARRVKDKIK
Drosophila AGAQMLQVFESSAEHLSKEQ FLQWCVPYLKRIRDELVDRLT
Slime mold AGAQALQIFDSWSNELSPAM FKEYCLPYLVQIGKEVKAVHP
Baker's yeast AGAQILQVFESWGGELSSVD FDEFSLPYLRQIAERVPKRLQ
Fission yeast AGAQLLQIFDSWAGELSPED FTEYAYPYLVRICQEVKQHLK
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.
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT.
Christiansen L.; Ged C.; Hombrados I.; Broens-Poulsen J.; Fontanellas A.; de Verneuil H.; Hoerder M.; Petersen N.E.;
Hum. Mutat. 14:222-232(1999)
Cited for: VARIANTS FPCT LEU-229 AND THR-324;
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