Variant position: 236 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 PDLDLDHPGFSDQVYRQRRK LIAEIAFQYRHGDPIPRVEYT
Mouse PDLDLDHPGFSDQAYRQRRK LIAEIAFQYKQGEPIPHVEYT
Rat PDLDLDHPGFSDQVYRQRRK LIAEIAFQYKHGEPIPHVEYT
Bovine PDLDLDHPGFSDQAYRQRRK LIAEIAFQYKQGDPIPHVEYT
Caenorhabditis elegans PTTDPRHPGHGDVAYIARRK FLNDQALEFKFGDEIGYVDYT
Drosophila PDLDMNHPGFADKVYRQRRK EIAEIAFAYKYGDPIPFIDYS
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.
Recessively inherited L-DOPA-responsive parkinsonism in infancy caused by a point mutation (L205P) in the tyrosine hydroxylase gene.
Luedecke B.; Knappskog P.M.; Clayton P.T.; Surtees R.A.H.; Clelland J.D.; Heales S.J.R.; Brand M.P.; Bartholome K.; Flatmark T.;
Hum. Mol. Genet. 5:1023-1028(1996)
Cited for: CHARACTERIZATION OF VARIANT ARSEGS PRO-236;
Association study of structural mutations of the tyrosine hydroxylase gene with schizophrenia and Parkinson's disease.
Kunugi H.; Kawada Y.; Hattori M.; Ueki A.; Otsuka M.; Nanko S.;
Am. J. Med. Genet. 81:131-133(1998)
Cited for: VARIANT ARSEGS PRO-236; VARIANT MET-112;
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.