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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P08397: Variant p.Pro119Leu

Porphobilinogen deaminase
Gene: HMBS
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Variant information Variant position: help 119 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 Proline (P) to Leucine (L) at position 119 (P119L, p.Pro119Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 AIP. Any additional useful information about the variant.


Sequence information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 361 The length of the canonical sequence.
Location on the sequence: help DLPTVLPPGFTIGAICKREN P HDAVVFHPKFVGKTLETLPE 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                         DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKT--LETLPE

Mouse                         DVPTILPPGFTIGAICKRENPCDAVVFHPKFIGKT--LETL

Rat                           DVPTILPPGFTIGAICKRENPCDAVVFHPKFIGKT--LETL

Bovine                        DLPTVLPPGFTIGAVCKRESPYDAVVFHPKFVGKT--LETL

Slime mold                    DIPTKLPDGLKLGAITKRYNTSDAFIANAKKHGKNCKLSEL

Baker's yeast                 DMPTLLPEGFELGGITKRVDPTDCLVMPFYSAYKS--LDDL

Fission yeast                 DLPSEMPDGMVIACIPKRSCPLDAIVFKAGSHYKT--VADL
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 2 – 361 Porphobilinogen deaminase
Mutagenesis 120 – 120 H -> A. Decreased hydroxymethylbilane synthase activity.
Mutagenesis 120 – 120 H -> P. Loss of hydroxymethylbilane synthase activity.



Literature citations
Four mutations in the porphobilinogen deaminase gene in patients with acute intermittent porphyria.
Lundin G.; Hashemi J.; Floderus Y.; Thunell S.; Sagen E.; Laegreid A.; Wassif W.; Peters T.; Anvret M.;
J. Med. Genet. 32:979-981(1995)
Cited for: VARIANTS AIP LEU-119 AND ALA-250; Genetic investigation of the porphobilinogen deaminase gene in Swedish acute intermittent porphyria families.
Lundin G.; Lee J.-S.; Thunell S.; Anvret M.;
Hum. Genet. 100:63-66(1997)
Cited for: VARIANTS AIP TRP-116; LEU-119; GLN-167; TRP-167; TRP-173; TRP-201 AND ASP-216;
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.