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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07101: Variant p.Ala376Val

Tyrosine 3-monooxygenase
Gene: TH
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Variant information Variant position: help 376 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 Valine (V) at position 376 (A376V, p.Ala376Val). 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 hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In ARSEGS; loss of over 80% of tyrosine 3-monooxygenase activity. Any additional useful information about the variant.


Sequence information Variant position: help 376 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 528 The length of the canonical sequence.
Location on the sequence: help EPDCCHELLGHVPMLADRTF A QFSQDIGLASLGASDEEIEK 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                         EPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEK

                              EPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEK

Mouse                         EPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEK

Rat                           EPDCCHELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEK

Bovine                        EPECCHELLGHVPMLADRTFAQFSQDIGLASLGVSDEEIEK

Caenorhabditis elegans        EPDLIHELLGHVPMFSDPLLAQMSQDIGLMSLGASDEHIEK

Drosophila                    EPDSIHELLGHMPLLADPSFAQFSQEIGLASLGASDEEIEK
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 1 – 528 Tyrosine 3-monooxygenase
Binding site 361 – 361
Binding site 366 – 366
Helix 373 – 386



Literature citations
Long-term course of L-dopa-responsive dystonia caused by tyrosine hydroxylase deficiency.
Schiller A.; Wevers R.A.; Steenbergen G.C.; Blau N.; Jung H.H.;
Neurology 63:1524-1526(2004)
Cited for: VARIANTS ARSEGS VAL-376 AND GLY-498; Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.
Fossbakk A.; Kleppe R.; Knappskog P.M.; Martinez A.; Haavik J.;
Hum. Mutat. 35:880-890(2014)
Cited for: FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; CHARACTERIZATION OF VARIANTS ARSEGS TYR-207; GLY-227; HIS-233; PRO-236; THR-241; TYR-246; SER-247; GLY-259; PRO-276; ALA-301; SER-309; MET-314; PRO-319; TRP-328; HIS-337; PHE-359; LEU-375; VAL-376; MET-387; THR-394; MET-399; LYS-412; ARG-414; PRO-441; GLY-467; LEU-492; MET-494; GLY-498 AND GLN-510;
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.