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UniProtKB/Swiss-Prot P06132: Variant p.Leu253Gln

Uroporphyrinogen decarboxylase
Gene: UROD
Variant information

Variant position:  253
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 Leucine (L) to Glutamine (Q) at position 253 (L253Q, p.Leu253Gln).
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 medium size and hydrophobic (L) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In FPCT; decrease of activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  253
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:   ALPYIRDVAKQVKARLREAG  L APVPMIIFAKDGHFALEELA
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                         ALPYIRDVAKQVKARLREAGL-APVPMIIFAKDGHFALEELA

Mouse                         ALPYIRDVAKRVKAGLQKAGL-APVPMIIFAKDGHFALEEL

Sheep                         ALPYIRDVSKRVKAGLQEAGL-APVPMIIFAKDGHFALEEL

Zebrafish                     SLPYLRDIARRVKDKIKESGL-DNVPMIVFAKDGHYGLEDL

Drosophila                    CVPYLKRIRDELVDRLTKKAI-PVVPMTLFAKGAGHSLKEQ

Slime mold                    CLPYLVQIGKEVKAVHPE------IPLICFAKGSNFALEDL

Baker's yeast                 SLPYLRQIAERVPKRLQELGIMEQIPMIVFAKGSWYALDKL

Fission yeast                 AYPYLVRICQEVKQHLKKKKR-DEVPMIVFAKGAWYAIDQL

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


Literature citations

Functional consequences of naturally occurring mutations in human uroporphyrinogen decarboxylase.
Phillips J.D.; Parker T.L.; Schubert H.L.; Whitby F.G.; Hill C.P.; Kushner J.P.;
Blood 98:3179-3185(2001)
Cited for: X-RAY CRYSTALLOGRAPHY (2.1 ANGSTROMS) OF VARIANTS FPCT ASP-156; LEU-232 AND THR-260; VARIANTS FPCT GLU-25; SER-80; GLN-134; ASP-156; ARG-165; LYS-167; PRO-193; LEU-232; GLN-253 AND THR-260; CHARACTERIZATION OF VARIANTS FPCT GLU-25; SER-80; GLN-134; ASP-156; ARG-165; LYS-167; PRO-193; LEU-232; GLN-253 AND THR-260;

Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria.
McManus J.F.; Begley C.G.; Sassa S.; Ratnaike S.;
Blood 88:3589-3600(1996)
Cited for: VARIANT HEP GLY-80; VARIANTS FPCT GLN-253; ARG-318 AND THR-334;

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.