splice junctions splice junction cdna variants large form large isoform small form exon lack alternative splice alternatively splice splice variants splice variant generate alternative splice transcripts differential splice single gene splice form splice isoforms splice exon alternative polyadenylation alternate splice splice site gene alternative full length alternative exon splice transcript novel splice exon skip 3 end splice @card@ alternative processing differentially splice splice event isoforms generate splice donor polymerase chain untranslated region splice isoform alternately splice isoforms differ exon encode alternative transcripts 5 end transcripts generate splice 5 site exon multiple isoforms primary transcript different isoforms undergo alternative splice mechanism encode alternatively alternative transcript lack exon isoforms alternative human protein @card@ base 5 splice splice alternative provide evidence new splice identify alternatively human alpha genomic structure gene and different splice transcripts encode transcription start splice pattern splice patterns splice occur lack @card@ variant lack start site splice product code sequence code exon alternative promoter cryptic splice transcripts alternative extensive alternative alternative usage 5 untranslated truncated protein transcript human splice different splice common splice code gene generate splice intron multiple transcripts generate multiple transcript alternative splice identify major transcripts encode alternative contain alternative polyadenylation signal novel alternatively isoforms derive exon usage @card@ kilobases @card@ gene @card@ alternatively alternative 3 transcription initiation multiple splice least alternatively isoform @card@ expression splice different transcripts alternative 5 additional exon 3' untranslated 3 untranslated 3 splice translation initiation transcripts express transcript express transcript @card@ subject alternative subcellular localization structure alternative splice messenger splice alpha skip exon short form several alternatively promoter usage major transcript express alternatively distinct isoforms different alternative differ 5 @card@ transcript reveal alternative generate transcripts generate isoforms existence alternative 5 exon variants alternative truncated isoform splice lead single exon reveal transcript probably alternative originate alternative multiple alternatively intron splice insertion @card@ differ alternative alternative transcription aberrant splice splice 3 several splice represent alternatively novel transcript mutually exclusive mutually exclusively multiple alternative lack domain internal splice exon transcript downstream exon derive from contain open complex splice complex pattern cloning human alternative two alternative translation splice site exon @card@ missense mutation pre mrna mutation exon @card@ patients autosomal dominant site mutation splice mutation splice factor mutation a point mutation site intron transcription factor gene family splice acceptor nonsense mutation breast cancer stop codon encode protein exon intron genomic structure autosomal recessive donor site x linked acceptor site novel mutation mutation gene deletion exon alzheimer disease single base donor splice cdnas encode @card@ missense splice variants intron splice exon encode a deletion unrelated patients skip exon gene cause chromosomal localization characterization human sequence identity sequence human gene patients family proteins cancer cell splice and promoter region novel protein isolate human a mutation missense and mammalian cells length cdna identify @card@ @card@ unrelated @card@ cells splice defect novel variant novel missense missense nonsense gene product cloning characterization genomic organization conformation polymorphism mutation cause premature termination mental retardation map chromosome consensus splice consensus sequence aberrant splice untranslated region hearing loss gt rule splice mrna protein isoforms mutation intron mutation identify a missense patients @card@ nonsense splice flank region exon skip region gene protein express missense splice cancer cells suppressor gene peripheral blood mutation @card@ disorder characterize @card@ different heterozygous mutation variant allele premature stop mutation codon muscular dystrophy exon splice compound heterozygous acceptor splice frame encode donor acceptor cleavage site a transition start site patients with least @card@ japanese patients include missense compound heterozygote @card@ cause a g a frameshift transcript @card@ c t conform gt a substitution and expression and exon affect splice splice @card@ mutation and frame @card@ termination codon splice exon splice conform sequence gene mutation splice mrna transcript mrna encode frameshift mutation @card@ mutation amino terminus patients homozygous mrna expression molecular basis dna repair dna damage cell growth splice intron region exon region and promoter activity normal splice mrna @card@ mismatch repair membrane protein ligand bind dominant disorder deletion a colorectal cancer codon exon @card@ mutant @card@ deletion @card@ code patients and one splice novel splice mutation associate missense exon large number include splice include nonsense identify patients fusion protein exon structure dominant negative determine @card@ describe novel deletion @card@ critical region cloning human @card@ transcript novel isoforms nonsense frameshift new splice multiple isoforms isoforms different insulin resistance insertion @card@ g c encode exon distinct isoforms contain protein clone encode chinese hamster characterize human cell and @card@ p @card@ nonsense @card@ isoforms @card@ g a premature amyloid precursor two missense translation initiation transcriptional activation sequence variant sequence reveal screen @card@ mutation screening mutation lead initiation codon 5 donor truncated protein transition exon transition codon transform growth transcription start transcription initiation subunit isoforms substitution position patients identify patients carry patient homozygous pair deletion splice error splice enhancer specific expression small nuclear new mutation mutation missense messenger rna locate exon frameshift and frame shift form human flank splice cause mutation abnormal splice