Variant position: 206 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 VYRQRRKYFVDVAMGYKYGQ PIPRVEYTEEETKTWGVVFRE
Rhesus macaque VYRQRRKYFVDVAMGYKYGQ PIPRVEYTEEETKTWGVVFRE
Mouse VYRQRRKYFVDVAMGYKYGQ PIPRVEYTEEETKTWGVVFRE
Rat VYRQRRKYFVDVAMGYKYGQ PIPRVEYTEEETKTWGVVFRE
Horse VYRQRRKYFVDVAMSYKYGQ PIPRVEYTEEETKTWGVVFRE
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 – 490 Tryptophan 5-hydroxylase 2
Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5'-region are associated with bipolar affective disorder.
Cichon S.; Winge I.; Mattheisen M.; Georgi A.; Karpushova A.; Freudenberg J.; Freudenberg-Hua Y.; Babadjanova G.; Van Den Bogaert A.; Abramova L.I.; Kapiletti S.; Knappskog P.M.; McKinney J.; Maier W.; Jamra R.A.; Schulze T.G.; Schumacher J.; Propping P.; Rietschel M.; Haavik J.; Noethen M.M.;
Hum. Mol. Genet. 17:87-97(2008)
Cited for: BIOPHYSICOCHEMICAL PROPERTIES; VARIANT SER-206; CHARACTERIZATION OF VARIANTS SER-206 AND HIS-441;
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;
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.