OMIM: 203500Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | HGD |
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| Dna Change: | c.1102A>G |
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| Protein Change: | p.Met368Val |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 13 |
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| Transcript: | NM_000187.3 |
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References
Beltrán-Valero de Bernabé D, Jimenez FJ, Aquaron R, Rodríguez de Córdoba S, Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).Am. J. Hum. Genet.. 1999; 64(5):1316-22