Variant position: 247 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 DQVYRQRRKLIAEIAFQYRH GDPIPRVEYTAEEIATWKEVY
Mouse DQAYRQRRKLIAEIAFQYKQ GEPIPHVEYTKEEIATWKEVY
Rat DQVYRQRRKLIAEIAFQYKH GEPIPHVEYTAEEIATWKEVY
Bovine DQAYRQRRKLIAEIAFQYKQ GDPIPHVEYTAEETATWKEVY
Caenorhabditis elegans DVAYIARRKFLNDQALEFKF GDEIGYVDYTEEEHATWKAVY
Drosophila DKVYRQRRKEIAEIAFAYKY GDPIPFIDYSDVEVKTWRSVF
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
Molecular analyses of GCH-1, TH and parkin genes in Chinese dopa-responsive dystonia families.
Wu Z.Y.; Lin Y.; Chen W.J.; Zhao G.X.; Xie H.; Murong S.X.; Wang N.;
Clin. Genet. 74:513-521(2008)
Cited for: VARIANTS ARSEGS HIS-233 AND SER-247;
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;
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