Gene Symbol: TH
OMIM: 191290Chromosome location: 11p15.5
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Segawa syndrome, recessive |
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| Dna Change: | c.707T>C |
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| Protein Change: | p.Leu236Pro |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_199292.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Greece | NA | NA | NA | NA | Zafeiriou DI et al., 2009Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R, . Tyrosine hydroxylase deficiency with severe clinical course.. Mol. Genet. Metab.. 2009; 97(1):18-20 |
| Greece | NA | NA | 3 patients | NA | Pons R et al., 2010Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R, . Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.. Mov. Disord.. 2010; 25(8):1086-90 |
References
Pons R, Serrano M, Ormazabal A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B, Artuch R, Tyrosine hydroxylase deficiency in three Greek patients with a common ancestral mutation.Mov. Disord.. 2010; 25(8):1086-90
Zafeiriou DI, Willemsen MA, Verbeek MM, Vargiami E, Ververi A, Wevers R, Tyrosine hydroxylase deficiency with severe clinical course.Mol. Genet. Metab.. 2009; 97(1):18-20