Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
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 :
c.576dup p.Leu193Serfs*16 frameshift LOF 26 homozygous Malaysia || c.92delG p.Arg31Lysfs*3 frameshift LOF 43,44 homozygous Saudi Arabia