Gene Symbol: TPO
OMIM: 606765Chromosome location: 2p25.3
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Thyroid dyshormonogenesis 2A |
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| Dna Change: | c.1618C>T |
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| Protein Change: | p.Arg540X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 10 |
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| Transcript: | NM_000547.5 |
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| Phenotype: | Thyroid dyshormonogenesis 2A |
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| Dna Change: | c.955G>A |
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| Protein Change: | p.Gly319Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_000547.5 |
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| Phenotype: | Thyroid dyshormonogenesis 2A |
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| Dna Change: | c.875C>T |
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| Protein Change: | p.Ser292Phe |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 8 |
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| Transcript: | NM_000547.5 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 3 families | NA | Bougacha-Elleuch N et al., 2015Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M, . Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.. Eur. J. Pediatr.. 2015; 0(0): |
References
Baş VN, Aycan Z, Cangul H, Kendall M, Ağladıoğlu SY, Çetinkaya S, Maher ER, A common thyroid peroxidase gene mutation (G319R) in Turkish patients with congenital hypothyroidism could be due to a founder effect.J. Pediatr. Endocrinol. Metab.. 2014; 27(3):383-7
Bougacha-Elleuch N, Charfi N, Miled N, Bouhajja H, Belguith N, Mnif M, Jaurge P, Chikhrouhou N, Ayadi H, Hachicha M, Abid M, Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect.Eur. J. Pediatr.. 2015; 0(0):
Ozbek MN, Uslu AB, Onenli-Mungan N, Yuksel B, Pohlenz J, Topaloglu AK, Thyroid peroxidase gene mutations causing congenital hypothyroidism in three Turkish families.J. Pediatr. Endocrinol. Metab.. 2009; 22(11):1033-9