Variant position: 251 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 RQRRKLIAEIAFQYRHGDPI PRVEYTAEEIATWKEVYTTLK
Mouse RQRRKLIAEIAFQYKQGEPI PHVEYTKEEIATWKEVYATLK
Rat RQRRKLIAEIAFQYKHGEPI PHVEYTAEEIATWKEVYVTLK
Bovine RQRRKLIAEIAFQYKQGDPI PHVEYTAEETATWKEVYSTLR
Caenorhabditis elegans IARRKFLNDQALEFKFGDEI GYVDYTEEEHATWKAVYEKLG
Drosophila RQRRKEIAEIAFAYKYGDPI PFIDYSDVEVKTWRSVFKTVQ
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
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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