5.0kb Tirant parallel insertion in the first intron between the distal and proximal promoters at position +406 to +409. Also two nucleotide substitutions are located in the adult enhancer, one of these is at position -523 in the central core region at the binding site for Aef1 so may affect the function of the enhancer.
Isolated from: All Saints, Victoria, Australia population. Selected as: Restriction site polymorphism.
Low Adh activity and transcript level. Chromosome bearing the AdhAAS44 mutation is homozygous lethal and the lethality has not yet been recombined off.