Variant position: 46 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 EETDYTPVWCMRQAGRYLPE FRETRAAQDFFSTCRSPEACC
Mouse EETDYTPVWCMRQAGRYLPE FRETRAAQDFFSTCRSPEACC
Sheep EETDYTPVWCMRQAGRYLPE FRETRAAQDFFSTCRSPEACC
Zebrafish EEIEHIPVWCMRQAGRYLPE FRESRAGKDFFETCRSPEACC
Drosophila EVVDRVPVWVMRQAGRYLPE FQELRKHHDFFTVCRTPELAC
Slime mold EEVPYVPVWIMRQAGRYLPE FKSVRADVDFFSVCRTPELAC
Baker's yeast EKVERPPCWIMRQAGRYLPE YHEVKNNRDFFQTCRDAEIAS
Fission yeast EEVERPPVWIMRQAGRYLPE YHKLRAKQSFFEMCQTPETAC
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
55 – 55 Substrate
44 – 51
Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus.
Ged C.; Ozalla D.; Herrero C.; Lecha M.; Mendez M.; de Verneuil H.; Mascaro J.M.;
Arch. Dermatol. 138:957-960(2002)
Cited for: VARIANT HEP LEU-46; CHARACTERIZATION OF VARIANT HEP LEU-46;
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern.
Armstrong D.K.B.; Sharpe P.C.; Chambers C.R.; Whatley S.D.; Roberts A.G.; Elder G.H.;
Br. J. Dermatol. 151:920-923(2004)
Cited for: VARIANT HEP LEU-46;
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