After submission, a result list is displayed, including mutation ID, mutation description on genome level, mutation description on cDNA level, mutation description on protein level, mutation type, mutation effect, associated diseases and PubMed IDs.
Schematic representation of KMT2D splicing mutations and their effect on cDNA patients.
Throughout the manuscript, we systematically used names for both DNA and protein variations whenever appropriate, and adopted a mutation numbering system based on cDNA sequence as suggested by the internationally agreed mutation nomenclature (http://www.hgvs.org/).hgvs.org/
PIK3CA mutation screening was performed on cDNA fragments obtained by RT-PCR amplification of exons 9 and 20 and their flanking exons.
Two of the 15 cases with missense mutations showed alterations based only on cDNA, and not DNA sequencing.
To further test the pathogenecity of the SORT1 p.G171A mutation, HEK293 cells were transfected with either wild-type or mutant (p.G171A) plasmids and quantitative PCR (qPCR) on cDNA extracted from wild-type and mutant cells was carried out.
Combining the sequencing data and Sanger sequencing results, we efficiently mapped the candidate mutation to the RHO gene at the position 403 on cDNA (c.403C>T), which converts arginine to tryptophan.
To assess the ELF3 c.1001 + 1_1001 + 2insGG mutation on mRNA splicing, cDNA amplification and direct sequencing were performed using primers listed in Additional file 1: Table S4.
Mutation analyses of the SMAD-2 gene were carried out on cDNA samples from 36 primary colorectal cancer specimens using a combination of the polymerase chain reaction (PCR), single-strand conformation polymorphism (SSCP) and DNA sequencing.
The top axis uses recently published prokaryotic mutation rates to bracket likely upper (top) and lower (bottom) limits on cDNA transfer times.
