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Last update

21/6/2017

Gene: homogentisate 1,2-dioxygenase; HGD

Gene Symbol: HGD
OMIM: 607474
Chromosome location: 3q13.33

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Alkaptonuria || c.1102A>G

Phenotype:	Alkaptonuria
Dna Change:	c.1102A>G
Protein Change:	p.Met368Val
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 13
Transcript:	NM_000187.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Spain	NA	NA	3 patients	NA	Beltrán-Valero de Bernabé D et al., 1999Beltrán-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

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

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: homogentisate 1,2-dioxygenase; HGD

References