Variant position: 281 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 FAKDGHFALEELAQAG-YEVV GLDWTVAPKKARECVGKT-VTL
Mouse FAKDGHFALEELAQAG-YEVV GLDWTVAPKKARERVGKA-V
Sheep FAKDGHFALEELAQAG-YEVV GLDWTVAPEKARERVGKT-V
Zebrafish FAKDGHYGLEDLSESA-YEVV GLDWTIDPRSARVRTGGK-V
Drosophila FAKGAGHSLKEQSELG-YDVI GLDWTVDPLEARNLVGPN-I
Slime mold FAKGSNFALEDLSKSGAYDVL GIDWTIEPSVAREMVADR-V
Baker's yeast FAKGSWYALDKLCCSG-FDVV SLDWSWDPREAVKINKNR-V
Fission yeast FAKGAWYAIDQLCDSG-YDVI GLDWTVSPKEAVRIRGNRRV
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
278 – 281
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria.
Moran-Jimenez M.J.; Ged C.; Romana M.; de Salamanca R.E.; Taieb A.; Topi G.; D'Alessandro L.; de Verneuil H.;
Am. J. Hum. Genet. 58:712-721(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HEP LEU-62; LEU-77; GLU-281 AND CYS-311;
Uroporphyrinogen decarboxylase structural mutant (Gly-281-->Glu) in a case of porphyria.
de Verneuil H.; Grandchamp B.; Beaumont C.; Picat C.; Nordmann Y.;
Cited for: VARIANT HEP GLU-281;
A mutation 'G281E' of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients.
Roberts A.G.; Elder G.H.; de Salamanca R.E.; Herrero C.; Lecha M.; Mascaro J.M.;
J. Invest. Dermatol. 104:500-502(1995)
Cited for: VARIANT FPCT GLU-281;
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