Variant position: 303 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 490 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 SPRDFLAGLAYRVFHCTQYI RHGSDPLYTPEPDTCHELLGH
Rhesus macaque SPRDFLAGLAYRVFHCTQYI RHGSDPLYTPEPDTCHELLGH
Mouse SPRDFLAGLAYRVFHCTQYV RHGSDPLYTPEPDTCHELLGH
Rat SPRDFLAGLAYRVFHCTQYV RHGSDPLYTPEPDTCHELLGH
Horse SPRDFLAGLAYRVFHCTQYV RHSSDPLYTPEPDTCHELLGH
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.
A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder.
McKinney J.; Johansson S.; Halmoy A.; Dramsdahl M.; Winge I.; Knappskog P.M.; Haavik J.;
Mol. Psychiatry 13:365-367(2008)
Cited for: VARIANT ADHD7 TRP-303;
Functional properties of missense variants of human tryptophan hydroxylase 2.
McKinney J.A.; Turel B.; Winge I.; Knappskog P.M.; Haavik J.;
Hum. Mutat. 30:787-794(2009)
Cited for: CHARACTERIZATION OF VARIANTS VAL-36; PRO-36; TYR-41; CYS-55; SER-206; TRP-303; VAL-328; HIS-441 AND GLU-479;
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