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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06132: Variant p.Gly281Glu

Uroporphyrinogen decarboxylase
Gene: UROD
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Variant information Variant position: help 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glycine (G) to Glutamate (E) at position 281 (G281E, p.Gly281Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In FPCT and HEP. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 281 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 367 The length of the canonical sequence.
Location on the sequence: help FAKDGHFALEELAQAGYEVV G LDWTVAPKKARECVGKTVTL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FAKDGHFALEELAQAG-YEVVGLDWTVAPKKARECVGK-TVTL

Mouse                         FAKDGHFALEELAQAG-YEVVGLDWTVAPKKARERVGK-AV

Sheep                         FAKDGHFALEELAQAG-YEVVGLDWTVAPEKARERVGK-TV

Zebrafish                     FAKDGHYGLEDLSESA-YEVVGLDWTIDPRSARVRTGG-KV

Drosophila                    FAKGAGHSLKEQSELG-YDVIGLDWTVDPLEARNLVGP-NI

Slime mold                    FAKGSNFALEDLSKSGAYDVLGIDWTIEPSVAREMVAD-RV

Baker's yeast                 FAKGSWYALDKLCCSG-FDVVSLDWSWDPREAVKINKN-RV

Fission yeast                 FAKGAWYAIDQLCDSG-YDVIGLDWTVSPKEAVRIRGNRRV

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 367 Uroporphyrinogen decarboxylase
Beta strand 278 – 281



Literature citations
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.;
Science 234:732-734(1986)
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;
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.