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Last update

21/6/2017

Phenotype: Hypophosphatasia, childhood

OMIM: 241510
Inheritance: Autosomal recessive
Classification: Endocrine, nutritional and metabolic disease

Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials

ALPL || c.571G>A

Gene/Locus:	ALPL
Dna Change:	c.571G>A
Protein Change:	p.Glu191Lys (E174K)
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 10
Transcript:	NM_000478.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
France	NA	NA	31%	NA	Hérasse M et al., 2002Hérasse M, Spentchian M, Taillandier A, Mornet E, . Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.. Eur. J. Hum. Genet.. 2002; 10(10):666-8

References

Hérasse M, Spentchian M, Taillandier A, Mornet E, Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients.Eur. J. Hum. Genet.. 2002; 10(10):666-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Phenotype: Hypophosphatasia, childhood

References