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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P16930: Variant p.Ala134Asp

Fumarylacetoacetase
Gene: FAH
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Variant information Variant position: help 134 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 Alanine (A) to Aspartate (D) at position 134 (A134D, p.Ala134Asp). 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 small size and hydrophobic (A) to medium size and acidic (D) 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 TYRSN1; loss of activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 134 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 419 The length of the canonical sequence.
Location on the sequence: help TMHLPATIGDYTDFYSSRQH A TNVGIMFRDKENALMPNWLH 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                         TMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLH

Mouse                         TMHLPATIGDYTDFYSSRQHATNVGIMFRGKENALLPNWLH

Rat                           TMHLPATIGDYTDFYSSLQHATNVGIMFRGKENALLPNWLH

Bovine                        TMYLPATIGDYTDFYSSRHHATNVGVMFRGKENALMPNWLH

Caenorhabditis elegans        TMHLPAQIGDYTDFYSSIHHATNVGIMFRGKENALMPNWKW

Slime mold                    TMLLPARIGDYTDFYASKEHATNVGIMFRGKENALMPNWVH
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 – 419 Fumarylacetoacetase
Active site 133 – 133 Proton acceptor
Binding site 126 – 126
Binding site 128 – 128
Binding site 142 – 142



Literature citations
Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.
Labelle Y.; Phaneuf D.; Leclerc B.; Tanguay R.M.;
Hum. Mol. Genet. 2:941-946(1993)
Cited for: VARIANT TYRSN1 ASP-134; Two missense mutations causing tyrosinemia type 1 with presence and absence of immunoreactive fumarylacetoacetase.
Rootwelt H.; Chou J.; Gahl W.A.; Berger R.; Coskun T.; Brodtkorb E.; Kvittingen E.A.;
Hum. Genet. 93:615-619(1994)
Cited for: VARIANTS TYRSN1 ASP-134 AND LEU-342; Structural and functional analysis of missense mutations in fumarylacetoacetate hydrolase, the gene deficient in hereditary tyrosinemia type 1.
Bergeron A.; D'Astous M.; Timm D.E.; Tanguay R.M.;
J. Biol. Chem. 276:15225-15231(2001)
Cited for: CHARACTERIZATION OF VARIANTS TYRSN1 ILE-16; CYS-62; ASP-134; ARG-193; VAL-233; GLY-234 AND ARG-279; CHARACTERIZATION OF VARIANT TRP-341;
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.