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A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]

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Last update

21/6/2017

Phenotype: Hyperphenylalaninemia, BH4-deficient, C

OMIM: 261630
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

QDPR || c.68G>A

Gene/Locus:	QDPR
Dna Change:	c.68G>A
Protein Change:	p.Gly23Asp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 1
Transcript:	NM_000320.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Malta	Maltese	NA	3.3% carrier rate	NA	Farrugia R et al., 2007Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE, . Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.. Mol. Genet. Metab.. 2007; 90(3):277-83

References

Farrugia R, Scerri CA, Montalto SA, Parascandolo R, Neville BG, Felice AE, Molecular genetics of tetrahydrobiopterin (BH4) deficiency in the Maltese population.Mol. Genet. Metab.. 2007; 90(3):277-83

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Hyperphenylalaninemia, BH4-deficient, C

References