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UniProtKB/Swiss-Prot P16930: Variant p.Pro342Leu

Fumarylacetoacetase
Gene: FAH
Variant information

Variant position:  342
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Leucine (L) at position 342 (P342L, p.Pro342Leu).
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:  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:  -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:  In TYRSN1; loss of activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  342
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  419
The length of the canonical sequence.

Location on the sequence:   MYWTMLQQLTHHSVNGCNLR  P GDLLASGTISGPEPENFGSM
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                         MYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSM

Mouse                         MYWTMLQQLTHHSVNGCNLRPGDLLASGTISGSDPESFGSM

Rat                           MYWTILQQLTHHSVNGCNLRPGDLLASGTISGSDPESFGSM

Bovine                        MYWTMLQQLTHHSVNGCNLQPGDLLASGTISGPEPESFGCM

Slime mold                    MYWTLTQQLAHHTVNGCNMNAGDLLGTGTISGPTEDSYGSM

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 2 – 419 Fumarylacetoacetase
Binding site 350 – 350 Substrate


Literature citations

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;

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.