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UniProtKB/Swiss-Prot P06132: Variant p.Phe46Leu

Uroporphyrinogen decarboxylase
Gene: UROD
Variant information

Variant position:  46
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Phenylalanine (F) to Leucine (L) at position 46 (F46L, p.Phe46Leu).
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:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In HEP; mild phenotype; strong decrease of activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   EETDYTPVWCMRQAGRYLPE  F RETRAAQDFFSTCRSPEACC
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                         EETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCRSPEACC

Mouse                         EETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCRSPEACC

Sheep                         EETDYTPVWCMRQAGRYLPEFRETRAAQDFFSTCRSPEACC

Zebrafish                     EEIEHIPVWCMRQAGRYLPEFRESRAGKDFFETCRSPEACC

Drosophila                    EVVDRVPVWVMRQAGRYLPEFQELRKHHDFFTVCRTPELAC

Slime mold                    EEVPYVPVWIMRQAGRYLPEFKSVRADVDFFSVCRTPELAC

Baker's yeast                 EKVERPPCWIMRQAGRYLPEYHEVKNNRDFFQTCRDAEIAS

Fission yeast                 EEVERPPVWIMRQAGRYLPEYHKLRAKQSFFEMCQTPETAC

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.

TypePositionsDescription
Chain 1 – 367 Uroporphyrinogen decarboxylase
Binding site 55 – 55 Substrate
Helix 44 – 51


Literature citations

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;

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.