Variant position: 309 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 528 The length of the canonical sequence.
Location on the sequence:
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 LERFSGYREDNIPQLEDVSR FLKERTGFQLRPVAGLLSARD
Mouse LERYCGYREDSIPQLEDVSH FLKERTGFQLRPVAGLLSARD
Rat LERYCGYREDSIPQLEDVSR FLKERTGFQLRPVAGLLSARD
Bovine LERFCGYREDRIPQLEDVSR FLKERTGFQLRPAAGLLSARD
Caenorhabditis elegans LQEEKVLTADRIPQIRDVNK FLQKKTGFELRPCSGLLSARD
Drosophila LQDEQIFVETRLPQLQEMSD FLRKNTGFSLRPAAGLLTARD
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.
Type Positions Description
1 – 528 Tyrosine 3-monooxygenase
264 – 357 Missing. In isoform 5 and isoform 6.
303 – 314
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation.
De Lonlay P.; Nassogne M.C.; van Gennip A.H.; van Cruchten A.C.; Billatte de Villemeur T.; Cretz M.; Stoll C.; Launay J.M.; Steenberger-Spante G.C.; van den Heuvel L.P.; Wevers R.A.; Saudubray J.M.; Abeling N.G.;
J. Inherit. Metab. Dis. 23:819-825(2000)
Cited for: VARIANT ARSEGS SER-309;
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: 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;
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.