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UniProtKB/Swiss-Prot Q8IWU9: Variant p.Pro206Ser

Tryptophan 5-hydroxylase 2
Gene: TPH2
Variant information

Variant position:  206
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Proline (P) to Serine (S) at position 206 (P206S, p.Pro206Ser).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and hydrophobic (P) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  May be associated with susceptibility to bipolar affective disorder; decreases solubility; decreases thermal stability; catalytic activity as the wild type; moderate loss-of-function observed manifested via stability and solubility effect.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   VYRQRRKYFVDVAMGYKYGQ  P IPRVEYTEEETKTWGVVFRE
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                         VYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFRE

Rhesus macaque                VYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFRE

Mouse                         VYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFRE

Rat                           VYRQRRKYFVDVAMGYKYGQPIPRVEYTEEETKTWGVVFRE

Horse                         VYRQRRKYFVDVAMSYKYGQPIPRVEYTEEETKTWGVVFRE

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.

TypePositionsDescription
Chain 1 – 490 Tryptophan 5-hydroxylase 2


Literature citations

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;

Disclaimer: 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.