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:
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 LVPYLVGQVVAGAQALQLFE SHAGHLGPQLFNKFALPYIRD
Mouse LVPYLIGQVAAGAQALQLFE SHAGHLGTELFSKFALPYIRD
Sheep LVPYLVGQVAAGAQALQLFE SHAGHLGPQLFSKFALPYIRD
Zebrafish IVEYLLGQVKAGAQALQVFE SHTGCLGPVEFKEFSLPYLRD
Drosophila IVDYLEMQVKAGAQMLQVFE SSAEHLSKEQFLQWCVPYLKR
Slime mold CIDYLLGQIKAGAQALQIFD SWSNELSPAMFKEYCLPYLVQ
Baker's yeast AVEFLSQQVVAGAQILQVFE SWGGELSSVDFDEFSLPYLRQ
Fission yeast TVSYLIQQVYAGAQLLQIFD SWAGELSPEDFTEYAYPYLVR
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 – 367 Uroporphyrinogen decarboxylase
219 – 219 Substrate
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;
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