ABCMdb

PMID: 17531547

Chen JM, Masson E, Macek M Jr, Raguenes O, Piskackova T, Fercot B, Fila L, Cooper DN, Audrezet MP, Ferec C
Detection of two Alu insertions in the CFTR gene.
J Cyst Fibros. 2008 Jan;7(1):37-43. Epub 2007 May 24., [PubMed]

Sentences

No. Mutations Sentence Comment

48 ABCC7 p.Glu92* Table 1 Characteristics, possible functional consequences, and mutations in trans, of the two simple Alu insertions in the CFTR gene Alu insertion Integration site Sub-family, Alu inserta Total length of insertion Length of Alu sequence/5' truncation Length of poly(A) tail Orientation of insertionb Size of target site duplication Presumed functional consequence of insertionc Mutation in trans #1 Exon 16 Y 103 bp 46 bp/yes 57 bp Antisense 18 bp Aberrant splicing p. F508del #2 Exon 17b Ya5 337 bp 281 bp/no 56 bp Sense 19 bp Aberrant splicing p.E92X a Whereas the sub-family of #2 was annotated by RepeatMasker (http://www.repeatmasker.org/cgi-bin/WEBRepeatMasker), that of #1 was annotated manually against an alignment of AluSq, AluY, AluYa5, AluYb8 and AluYb9 consensus sequences. Login to comment 49 ABCC7 p.Glu92* Table 1 Characteristics, possible functional consequences, and mutations in trans, of the two simple Alu insertions in the CFTR gene Alu insertion Integration site Sub-family, Alu inserta Total length of insertion Length of Alu sequence/5' truncation Length of poly(A) tail Orientation of insertionb Size of target site duplication Presumed functional consequence of insertionc Mutation in trans #1 Exon 16 Y 103 bp 46 bp/yes 57 bp Antisense 18 bp Aberrant splicing p. F508del #2 Exon 17b Ya5 337 bp 281 bp/no 56 bp Sense 19 bp Aberrant splicing p.E92X a Whereas the sub-family of #2 was annotated by RepeatMasker (http://www.repeatmasker.org/cgi-bin/WEBRepeatMasker), that of #1 was annotated manually against an alignment of AluSq, AluY, AluYa5, AluYb8 and AluYb9 consensus sequences. Login to comment