TABLE 2

Molecular lesions identified in dTAB2 (CG7417)

AlleleDNA levelProtein level
G71CAG → TAGGln40 → Stop
G576CAG → TAGGln66 → Stop
G973CAG → TAGGln107 → Stop
G58CAA → TAAGln119 → Stop
G635CGA → TGAArg209 → Stop
G609CAA → TAAGln216 → Stop
G421CAG → TAGGln224 → Stop
G867CGA → TGAArg233 → Stop
G503 (independent of G585)CAA → TAAGln317 → Stop
G585 (independent of G503)CAA → TAAGln317 → Stop
G683CAG → TAGGln330 → Stop
G2457-bp Del bp 1203–1209 of CDSPremature Stop at AA422
G666CAG → TAGGln458 → Stop
G552 (independent of G734)CAG → TAGGln486 → Stop
G734 (independent of G552)CAG → TAGGln486 → Stop
G6425′ splice site intron 2 GT → GA
G788CAG → TAGGln542 → Stop
G253CAG → TAGGln544 → Stop
G981CTG → CAG + GAC → AACLeu570 → Gln + Asp592 → Asn
G539284-bp Del bp 1711–1994 of CDS +CA insertion at breakpoint → in frame!Thr571 → His, Glu572 → Gln, AA 573–666 deleted
G275AGA → TGAArg581 → Stop
G9333′ splice site intron 3 AG → AA
G746CAA → TAAGln633 → Stop
G489CAG → TAGGln634 → Stop
G548CAG → TAGGln641 → Stop
G954CAG → TAGGln689 → Stop
G545CAG → TAGGln712 → Stop
G227CAG → TAGGln713 → Stop
G812CAG → TAGGln720 → Stop
G271CAG → TAGGln728 → Stop
G829CAG → TAGGln731 → Stop
G603CAG → TAGGln744 → Stop
G520 (independent of G715)TGG → TAGTrp767 → Stop
G715 (independent of G520)TGG → TAGTrp767 → Stop
G701 (independent of G824)TGG → TGATrp767 → Stop
G824 (independent of G701)TGG → TGATrp767 → Stop
G211TGC → GGC + AAC → AAACys769 → Gly + Asn770 → Cys
G928GGT → GATGly794 → Asp
G82553-bp Del bp 2437–2489 of CDSFrameshift leads to a longer protein
  • Alleles are ordered according to their position in the protein. Nucleotide changes are in boldface type. In a GMR-Gal4 UAS-egr background, all alleles display an “intermediate” strength of suppression.