Sequence information
Variant position: 219 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:
LVPYLVGQVVAGAQALQLFE
S HAGHLGPQLFNKFALPYIRD
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 LVPYLVGQVVAGAQALQLFES HAGHLGPQLFNKFALPYIRD
Mouse LVPYLIGQVAAGAQALQLFES HAGHLGTELFSKFALPYIRD
Sheep LVPYLVGQVAAGAQALQLFES HAGHLGPQLFSKFALPYIRD
Zebrafish IVEYLLGQVKAGAQALQVFES HTGCLGPVEFKEFSLPYLRD
Drosophila IVDYLEMQVKAGAQMLQVFES SAEHLSKEQFLQWCVPYLKR
Slime mold CIDYLLGQIKAGAQALQIFDS WSNELSPAMFKEYCLPYLVQ
Baker's yeast AVEFLSQQVVAGAQILQVFES WGGELSSVDFDEFSLPYLRQ
Fission yeast TVSYLIQQVYAGAQLLQIFDS WAGELSPEDFTEYAYPYLVR
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
Chain
1 – 367
Uroporphyrinogen decarboxylase
Binding site
219 – 219
Substrate
Literature citations
Seven novel point mutations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea tarda (f-PCT).
Cappellini M.D.; Martinez Di Montemuros F.; Tavazzi D.; Fargion S.; Pizzuti A.; Comino A.; Cainelli T.; Fiorelli G.;
Hum. Mutat. 17:350-350(2001)
Cited for: VARIANTS FPCT GLN-142; GLN-161; PHE-219 AND SER-235;
Disclaimer:
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.