Table 1

CREBBP sequence variations reported in this study

Nucleotide changeExonPatientMutation typePredicted consequence
dele1-e311 to 319Large deletion, length >120 kbLoss of all exons
dele1-e311 to 3110Large deletion, length >120 kbLoss of all exons
86del148nt22Out of frame deletionaa 1-28 of CREBBP, additional 8 aa, Stop in exon 2
1108C→T43Nonsenseaa 1-369 of CREBBP, Arg 370 to Stop
1108C→T44Nonsenseaa 1-369 of CREBBP, Arg 370 to Stop
1216+1G→AIntron 45Splice siteaa 1-405 of CREBBP, additional 1 aa, Stop in intron 4
1676+1G→AIntron 76Splice siteaa 1-558 of CREBBP, additional 8 aa, Stop in intron 7
2973C→T157PolymorphismNone, Asp 991 to Asp
3524A→G181MissenseTyr 1175 to Cys
4495C→T278PolymorphismNone, Leu 1499 to Leu