IVS1_human-EPHX1

Gene Locus : human-EPHX1

Mode of mutation : Natural mutant

Disease : Familial hypercholanemia

Summary :

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity :

Modification :

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

Comment : 2557C>G mutation in allele II in the intron 1 sequence found in a patient compound heterozygote with the 4238T>A in allele I. EPHX1 protein and mRNA levels were reduced by approximately 95\% and 85\%, respectively. The 2557C>G mutation in allele II was found as a heterozygous change in 16\% and as a homozygous change in 1.6\% of the subjects.