Insertions

typenamephenotypemutationsequence contextresultremarksource
coding sequenceZaragoza II, LN-HLND100insGGGAA AGG G[GG] TG (6 base run)frame shift in E2(Puig et al., 2001; Torres et al., 2000)
coding sequence20/00LND212insGAAG GGG GG[G]C (6 base run)frame shift in E3(Bertelli et al., 2004)
coding sequence2037039LND212insGAAG GGG GG[G]C (6 base run)frame shift in E3(Bertelli et al., 2004)
coding sequenceIJLND212insGAAG GGG GG[G]C (6 base run)frame shift in E3(Burgemeister et al., 1994)
coding sequence1650, CWLND212insGAAG GGG GG[G]C (6 base run)frame shift in E3(Tarle et al., 1991)
coding sequenceRJK 866, CWLND212insGAAG GGG GG[G]C (6 base run)frame shift in E3(Gibbs et al., 1989)
coding sequence34MM/95LND212insGAAG GGG GG[G]C (6 base run)frame shift in E3(Tvrdik et al., 1998)
coding sequenceNS*LND214insGGGC T[T]AT AAAframe shift in E3(Willers et al., 1999)
coding sequenceLN55, CMLND219insATAT AAA[A] TTCframe shift in E3(Jinnah et al., 2000)
coding sequenceCTLND288insAATG ACT[A] GTAframe shift in E3(Jinnah et al., 2000)
coding sequenceCodicoteLND298insTGAT TTT[T] ATC (4 base run)frame shift in E3(Boyd et al., 1993; Davidson et al., 1991)
coding sequence310insGLND310insGCTG AAG[G] AGCframe shift in E3(Kim et al., 1997)
coding sequenceCartagena, LN-HLND405insAGAT[A] ATA ATT (creates ATA repeat)frame shift in E6(Puig et al., 2001; Torres et al., 2000)
coding sequenceABLND405insAGAT[A] ATA ATT (creates ATA repeat)frame shift in E6(Jinnah et al., 2000)
coding sequenceRW, TWHRND429insGCAATG [GCA] CAG ACTE6 codes for an additional amino acid(Sege-Peterson et al., 1992)
coding sequence1656, CWLND436insTACT TT[T]G CTT (3 base run)frame shift in E6(Tarle et al., 1991)
coding sequence56/00LND506insCACC CC[C]A CGA (4 base run)frame shift in E7(Bertelli et al., 2004)
coding sequence1266, PWLND511insGTCGA A[GT]GT GTT (run of 2 GT pairs)frame shift in E7(Tarle et al., 1991)
coding sequenceNS*LND556insTGAC A[T]AG TTTframe shift in E8(Willers et al., 1999)
coding sequenceChicago, DMLND55insTGAC C[T]TT GAT (2 base run)frame shift in E2(Davidson et al., 1989b)
coding sequenceNS*LND594insTAGAA TA[TA]C TTC (creates TA repeat)frame shift in E8(Willers et al., 1999)
coding sequenceCoorparoo, JGLND71insTTGC AT[T]A CCTframe shift in E3(Gordon et al., 1991)
splice errorLN34, TSLND371insTTACT TT[TT]A ACT (3 base run)splice error; E4-5 excluded(Jinnah et al., 2000; Jinnah et al., 2005)