[8c4ad8]: / docs / research / CFTR Annotations.txt

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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