All annotations courtesy of the National Library of Medicine Author's note: DNAse hypersensitive loci and most enhancer sequences are not included because, at the current state of DNAnalyzer, will not be of importance. Coding Sequence (mutations along these sequences are very likely to affect the protein structure in a negative manner): atgcagaggt cgcctctgga aaaggccagc gttgtctcca aacttttttt cagctggacc agaccaattt tgaggaaagg atacagacag cgcctggaat tgtcagacat ataccaaatc ccttctgttg attctgctga caatctatct gaaaaattgg aaagagaatg ggatagagag ctggcttcaa agaaaaatcc taaactcatt aatgcccttc ggcgatgttt tttctggaga tttatgttct atggaatctt tttatattta ggggaagtca ccaaagcagt acagcctctc ttactgggaa gaatcatagc ttcctatgac ccggataaca aggaggaacg ctctatcgcg atttatctag gcataggctt atgccttctc tttattgtga ggacactgct cctacaccca gccatttttg gccttcatca cattggaatg cagatgagaa tagctatgtt tagtttgatt tataagaaga ctttaaagct gtcaagccgt gttctagata aaataagtat tggacaactt gttagtctcc tttccaacaa cctgaacaaa tttgatgaag gacttgcatt ggcacatttc gtgtggatcg ctcctttgca agtggcactc ctcatggggc taatctggga gttgttacag gcgtctgcct tctgtggact tggtttcctg atagtccttg ccctttttca ggctgggcta gggagaatga tgatgaagta cagagatcag agagctggga agatcagtga aagacttgtg attacctcag aaatgattga aaatatccaa tctgttaagg catactgctg ggaagaagca atggaaaaaa tgattgaaaa cttaagacaa acagaactga aactgactcg gaaggcagcc tatgtgagat acttcaatag ctcagccttc ttcttctcag ggttctttgt ggtgttttta tctgtgcttc cctatgcact aatcaaagga atcatcctcc ggaaaatatt caccaccatc tcattctgca ttgttctgcg catggcggtc actcggcaat ttccctgggc tgtacaaaca tggtatgact ctcttggagc aataaacaaa atacaggatt tcttacaaaa gcaagaatat aagacattgg aatataactt aacgactaca gaagtagtga tggagaatgt aacagccttc tgggaggagg gatttgggga attatttgag aaagcaaaac aaaacaataa caatagaaaa acttctaatg gtgatgacag cctcttcttc agtaatttct cacttcttgg tactcctgtc ctgaaagata ttaatttcaa gatagaaaga ggacagttgt tggcggttgc tggatccact ggagcaggca agacttcact tctaatggtg attatgggag aactggagcc ttcagagggt aaaattaagc acagtggaag aatttcattc tgttctcagt tttcctggat tatgcctggc accattaaag aaaatatcat ctttggtgtt tcctatgatg aatatagata cagaagcgtc atcaaagcat gccaactaga agaggacatc tccaagtttg cagagaaaga caatatagtt cttggagaag gtggaatcac actgagtgga ggtcaacgag caagaatttc tttagcaaga gcagtataca aagatgctga tttgtattta ttagactctc cttttggata cctagatgtt ttaacagaaa aagaaatatt tgaaagctgt gtctgtaaac tgatggctaa caaaactagg attttggtca cttctaaaat ggaacattta aagaaagctg acaaaatatt aattttgcat gaaggtagca gctattttta tgggacattt tcagaactcc aaaatctaca gccagacttt agctcaaaac tcatgggatg tgattctttc gaccaattta gtgcagaaag aagaaattca atcctaactg agaccttaca ccgtttctca ttagaaggag atgctcctgt ctcctggaca gaaacaaaaa aacaatcttt taaacagact ggagagtttg gggaaaaaag gaagaattct attctcaatc caatcaactc tatacgaaaa ttttccattg tgcaaaagac tcccttacaa atgaatggca tcgaagagga ttctgatgag cctttagaga gaaggctgtc cttagtacca gattctgagc agggagaggc gatactgcct cgcatcagcg tgatcagcac tggccccacg cttcaggcac gaaggaggca gtctgtcctg aacctgatga cacactcagt taaccaaggt cagaacattc accgaaagac aacagcatcc acacgaaaag tgtcactggc ccctcaggca aacttgactg aactggatat atattcaaga aggttatctc aagaaactgg cttggaaata agtgaagaaa ttaacgaaga agacttaaag gagtgctttt ttgatgatat ggagagcata ccagcagtga ctacatggaa cacatacctt cgatatatta ctgtccacaa gagcttaatt tttgtgctaa tttggtgctt agtaattttt ctggcagagg tggctgcttc tttggttgtg ctgtggctcc ttggaaacac tcctcttcaa gacaaaggga atagtactca tagtagaaat aacagctatg cagtgattat caccagcacc agttcgtatt atgtgtttta catttacgtg ggagtagccg acactttgct tgctatggga ttcttcagag gtctaccact ggtgcatact ctaatcacag tgtcgaaaat tttacaccac aaaatgttac attctgttct tcaagcacct atgtcaaccc tcaacacgtt gaaagcaggt gggattctta atagattctc caaagatata gcaattttgg atgaccttct gcctcttacc atatttgact tcatccagtt gttattaatt gtgattggag ctatagcagt tgtcgcagtt ttacaaccct acatctttgt tgcaacagtg ccagtgatag tggcttttat tatgttgaga gcatatttcc tccaaacctc acagcaactc aaacaactgg aatctgaagg caggagtcca attttcactc atcttgttac aagcttaaaa ggactatgga cacttcgtgc cttcggacgg cagccttact ttgaaactct gttccacaaa gctctgaatt tacatactgc caactggttc ttgtacctgt caacactgcg ctggttccaa atgagaatag aaatgatttt tgtcatcttc ttcattgctg ttaccttcat ttccatttta acaacaggag aaggagaagg aagagttggt attatcctga ctttagccat gaatatcatg agtacattgc agtgggctgt aaactccagc atagatgtgg atagcttgat gcgatctgtg agccgagtct ttaagttcat tgacatgcca acagaaggta aacctaccaa gtcaaccaaa ccatacaaga atggccaact ctcgaaagtt atgattattg agaattcaca cgtgaagaaa gatgacatct ggccctcagg gggccaaatg actgtcaaag atctcacagc aaaatacaca gaaggtggaa atgccatatt agagaacatt tccttctcaa taagtcctgg ccagagggtg ggcctcttgg gaagaactgg atcagggaag agtactttgt tatcagcttt tttgagacta ctgaacactg aaggagaaat ccagatcgat ggtgtgtctt gggattcaat aactttgcaa cagtggagga aagcctttgg agtgatacca cagaaagtat ttattttttc tggaacattt agaaaaaact tggatcccta tgaacagtgg agtgatcaag aaatatggaa agttgcagat gaggttgggc tcagatctgt gatagaacag tttcctggga agcttgactt tgtccttgtg gatgggggct gtgtcctaag ccatggccac aagcagttga tgtgcttggc tagatctgtt ctcagtaagg cgaagatctt gctgcttgat gaacccagtg ctcatttgga tccagtaaca taccaaataa ttagaagaac tctaaaacaa gcatttgctg attgcacagt aattctctgt gaacacagga tagaagcaat gctggaatgc caacaatttt tggtcataga agagaacaaa gtgcggcagt acgattccat ccagaaactg ctgaacgaga ggagcctctt ccggcaagcc atcagcccct ccgacagggt gaagctcttt ccccaccgga actcaagcaa gtgcaagtct aagccccaga ttgctgctct gaaagaggag acagaagaag aggtgcaaga tacaaggctt tag This should translate to: MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVD SADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLL GRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLI YKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWEL LQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYC WEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILR KIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEV VMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIER GQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIF GVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDA DLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSS YFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTET KKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVP DSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAP QANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVH KSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYY VFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGI LNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLR AYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTAN WFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWA VNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIW PSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLN TEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVAD EVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDP VTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSL FRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL The most common cystic fibrosis mutation is ENIIFGVSYDE -> ENIIGVSYDE CFTR Promoters: Basal Promoter (attracts the formation of a transcription complex, located within the entire promoter region): gtagtaggtc tttggcatta ggagcttgag cccaga Promoter (whole sequence): gtagtaggtc tttggcatta ggagcttgag cccagacggc cctagcaggg accccagcgc ccgagagacc