TABLE 1

Molecular lesions identified in basket (bsk)

AlleleDNA levelProtein level
G4183′ splice site intron 3 AG → AA
G368CAG → TAGGln115 → Stop
G179 (independent of G536)TCC → TTCSer127 → Phe
G536 (independent of G179)TCC → TTCSer127 → Phe
G577GCA → GTAAla143 → Val
G400ACC → ATCThr181 → Ile
G760CCC → TCCPro182 → Ser
G290TCC → TTCSer208 → Phe
G258TGG → TGATrp232 → Stop
G688CGG → CCGArg308 → Pro
  • Alleles are ordered according to their position in the protein. Nucleotide changes are in bold face type. In a GMR-Gal4 UAS-egr background, all alleles display an “intermediate” strength of suppression.