Phenotype: Hypophosphatasia, childhood


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

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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

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
FranceNANA31%NAHérasse 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