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Last update

21/6/2017

Gene: aldehyde dehydrogenase 7 family, member A1; ALDH7A1

Gene Symbol: ALDH7A1
OMIM: 107323
Chromosome location: 5q23.2

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

Epilepsy, pyridoxine-dependent || c.1364T>C

Phenotype:	Epilepsy, pyridoxine-dependent
Dna Change:	c.1364T>C
Protein Change:	p.Val455Ala
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 16
Transcript:	NM_001201377.1

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	7 patients/7 unrelated families	NA	Tlili A et al., 2013Tlili A, Hamida Hentati N, Chaabane R, Gargouri A, Fakhfakh F, . Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.. Gene. 2013; 518(2):242-5

References

Tlili A, Hamida Hentati N, Chaabane R, Gargouri A, Fakhfakh F, Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.Gene. 2013; 518(2):242-5

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: aldehyde dehydrogenase 7 family, member A1; ALDH7A1

References