The missing exon 9 in 5T individuals often translates to CBAVD without other CF symptoms.
A single C>T base change in exon 7 of SMN2 results in abnormal splicing with the majority of transcripts missing exon 7 that encodes a crucial oligomerisation domain, and therefore results in a non-functional protein.
We identify the transcript variant of serglycin missing exon 2 in several of these cell lines.
An incomplete or fragmented protein domain in the protein product, as indicated by Pfam (31) or InterPro (32), might indicate a missing exon or incorrect splice sites.
One of the two sequences contains 12 FN type III domains (GSTENT00025206001) and the other contains 10 FN type III domains (GSTENT00020055001; Figure 3A; note that it was necessary for us to complete several predicted partial FN type III domains by identifying missing exons by translating nearby open reading frames in the genomic sequence).
To determine the source of these discrepancies between Tiling Assembly and the FL-cDNA, seven different categories of classification were used: extra exon, missing exon, extra intron, missing intron, missing junction, gap, or multiple discrepancies.
Isoform I, missing exon 16, and isoform II, containing all 17 exons, are the two predominant species.
Improvements include the addition or extension of 3' and 5' UTRs, the identification of missing exons, the removal of incorrectly predicted exons and the refinement of exon/intron boundaries.
Thus, using gene containing regions as a measure we found no evidence for wrong assemblies indicated by missing exons, wrong exon order or orientation (flipped/reverse exons).
Computational techniques may inaccurately predict genes by missing exons derived solely from promoters, or that are due to alternative splicing of transcripts or to use of non-canonical splice sites, alternative translational initiation and/or polyadenylation sites [ 26].
