Variant position: 279 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 EIATWKEVYTTLKGLYATHA CGEHLEAFALLERFSGYREDN
Mouse EIATWKEVYATLKGLYATHA CREHLEAFQLLERYCGYREDS
Rat EIATWKEVYVTLKGLYATHA CREHLEGFQLLERYCGYREDS
Bovine ETATWKEVYSTLRGLYPTHA CREHLEAFELLERFCGYREDR
Caenorhabditis elegans EHATWKAVYEKLGDLHLSHT CAVYRQNLKILQEEKVLTADR
Drosophila EVKTWRSVFKTVQDLAPKHA CAEYRAAFQKLQDEQIFVETR
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.
A new tyrosine hydroxylase genotype associated with early-onset severe encephalopathy.
Giovanniello T.; Claps D.; Carducci C.; Carducci C.; Blau N.; Vigevano F.; Antonozzi I.; Leuzzi V.;
J. Child Neurol. 27:523-525(2012)
Cited for: VARIANTS ARSEGS LEU-251; PHE-279 AND GLN-296; VARIANT MET-112;
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