Рис. DMD seq
Нуклеотидная и аминокислотная последовательности гена дистрофина человека ATG CTT TGG TGG GAA GAA GTA GAG GAC TGT TAT GAA AGA GAA GAT met leu trp trp glu glu val glu asp cys tyr glu arg glu asp 15 GTT CAA AAG AAA ACA TTC ACA AAA TGG GTA AAT GCA CAA TTT TCT val gln lys lys thr phe thr lys trp val asn ala gln phe ser 30 AAG TTT GGG AAG CAG CAT ATT GAG AAC CTC TTC AGT GAC CTA CAG lys phe gly lys gln his ile glu asn leu phe ser asp leu gln 45 GAT GGG AGG CGC CTC CTA GAC CTC CTC GAA GGC CTG ACA GGG CAA asp gly arg arg leu leu asp leu leu glu gly leu thr gly gln 60 AAA CTG CCA AAA GAA AAA GGA TCC ACA AGA GTT CAT GCC CTG AAC lys leu pro lys glu lys gly ser thr arg val his ala leu asn 75 AAT GTC AAC AAG GCA CTG CGG GTT TTG CAG AAC AAT AAT GTT GAT asn val asn lys ala leu arg val leu gln asn asn asn val asp 90 TTA GTG AAT ATT GGA AGT ACT GAC ATC GTA GAT GGA AAT CAT AAA leu val asn ile gly ser thr asp ile val asp gly asn his lys 105 CTG ACT CTT GGT TTG ATT TGG AAT ATA ATC CTC CAC TGG CAG GTC leu thr leu gly leu ile trp asn ile ile leu his trp gln val 120 AAA AAT GTA ATG AAA AAT ATC ATG GCT GGA TTG CAA CAA ACC AAC lys asn val met lys asn ile met ala gly leu gln gln thr asn 135 AGT GAA AAG ATT CTC CTG AGC TGG GTC CGA CAA TCA ACT CGT AAT ser glu lys ile leu leu ser trp val arg gln ser thr arg asn 150 TAT CCA CAG GTT AAT GTA ATC AAC TTC ACC ACC AGC TGG TCT GAT tyr pro gln val asn val ile asn phe thr thr ser trp ser asp 165 GGC CTG GCT TTG AAT GCT CTC ATC CAT AGT CAT AGG CCA GAC CTA gly leu ala leu asn ala leu ile his ser his arg pro asp leu 180 TTT GAC TGG AAT AGT GTG GTT TGC CAG CAG TCA GCC ACA CAA CGA phe asp trp asn ser val val cys gln gln ser ala thr gln arg 195 CTG GAA CAT GCA TTC AAC ATC GCC AGA TAT CAA TTA GGC ATA GAG leu glu his ala phe asn ile ala arg tyr gln leu gly ile glu 210 AAA CTA CTC GAT CCT GAA GAT GTT GAT ACC ACC TAT CCA GAT AAG lys leu leu asp pro glu asp val asp thr thr tyr pro asp lys 225 AAG TCC ATC TTA ATG TAC ATC ACA TCA CTC TTC CAA GTT TTG CCT lys ser ile leu met tyr ile thr ser leu phe gln val leu pro 240 CAA CAA GTG AGC ATT GAA GCC ATC CAG GAA GTG GAA ATG TTG CCA gln gln val ser ile glu ala ile gln glu val glu met leu pro 255 AGG CCA CCT AAA GTG ACT AAA GAA GAA CAT TTT CAG TTA CAT CAT arg pro pro lys val thr lys glu glu his phe gln leu his his 270 CAA ATG CAC TAT TCT CAA CAG ATC ACG GTC AGT CTA GCA CAG GGA gln met his tyr ser gln gln ile thr val ser leu ala gln gly 285 TAT GAG AGA ACT TCT TCC CCT AAG CCT CGA TTC AAG AGC TAT GCC tyr glu arg thr ser ser pro lys pro arg phe lys ser tyr ala 300 TAC ACA CAG GCT GCT TAT GTC ACC ACC TCT GAC CCT ACA CGG AGC tyr thr gln ala ala tyr val thr thr ser asp pro thr arg ser 315 CCA TTT CCT TCA CAG CAT TTG GAA GCT CCT GAA GAC AAG TCA TTT pro phe pro ser gln his leu glu ala pro glu asp lys ser phe 330 GGC AGT TCA TTG ATG GAG AGT GAA GTA AAC CTG GAC CGT TAT CAA gly ser ser leu met glu ser glu val asn leu asp arg tyr gln 345 ACA GCT TTA GAA GAA GTA TTA TCG TGG CTT CTT TCT GCT GAG GAC thr ala leu glu glu val leu ser trp leu leu ser ala glu asp 360 ACA TTG CAA GCA CAA GGA GAG ATT TCT AAT GAT GTG GAA GTG GTG thr leu gln ala gln gly glu ile ser asn asp val glu val val 375 AAA GAC CAG TTT CAT ACT CAT GAG GGG TAC ATG ATG GAT TTG ACA lys asp gln phe his thr his glu gly tyr met met asp leu thr 390 GCC CAT CAG GGC CGG GTT GGT AAT ATT CTA CAA TTG GGA AGT AAG ala his gln gly arg val gly asn ile leu gln leu gly ser lys 405 CTG ATT GGA ACA GGA AAA TTA TCA GAA GAT GAA GAA ACT GAA GTA leu ile gly thr gly lys leu ser glu asp glu glu thr glu val 420 CAA GAG CAG ATG AAT CTC CTA AAT TCA AGA TGG GAA TGC CTC AGG gln glu gln met asn leu leu asn ser arg trp glu cys leu arg 435 GTA GCT AGC ATG GAA AAA CAA AGC AAT TTA CAT AGA GTT TTA ATG val ala ser met glu lys gln ser asn leu his arg val leu met 450 GAT CTC CAG AAT CAG AAA CTG AAA GAG TTG AAT GAC TGG CTA ACA asp leu gln asn gln lys leu lys glu leu asn asp trp leu thr 465 AAA ACA GAA GAA AGA ACA AGG AAA ATG GAG GAA GAG CCT CTT GGA lys thr glu glu arg thr arg lys met glu glu glu pro leu gly 480 CCT GAT CTT GAA GAC CTA AAA CGC CAA GTA CAA CAA CAT AAG GTG pro asp leu glu asp leu lys arg gln val gln gln his lys val 495 CTT CAA GAA GAT CTA GAA CAA GAA CAA GTC AGG GTC AAT TCT CTC leu gln glu asp leu glu gln glu gln val arg val asn ser leu 510 ACT CAC ATG GTG GTG GTA GTT GAT GAA TCT AGT GGA GAT CAC GCA thr his met val val val val asp glu ser ser gly asp his ala 525 ACT GCT GCT TTG GAA GAA CAA CTT AAG GTA TTG GGA GAT CGA TGG thr ala ala leu glu glu gln leu lys val leu gly asp arg trp 540 GCA AAC ATC TGT AGA TGG ACA GAA GAC CGC TGG GTT CTT TTA CAA ala asn ile cys arg trp thr glu asp arg trp val leu leu gln 555 GAC ATC CTT CTC AAA TGG CAA CGT CTT ACT GAA GAA CAG TGC CTT asp ile leu leu lys trp gln arg leu thr glu glu gln cys leu 570 TTT AGT GCA TGG CTT TCA GAA AAA GAA GAT GCA GTG AAC AAG ATT phe ser ala trp leu ser glu lys glu asp ala val asn lys ile 585 CAC ACA ACT GGC TTT AAA GAT CAA AAT GAA ATG TTA TCA AGT CTT his thr thr gly phe lys asp gln asn glu met leu ser ser leu 600 CAA AAA CTG GCC GTT TTA AAA GCG GAT CTA GAA AAG AAA AAG CAA gln lys leu ala val leu lys ala asp leu glu lys lys lys gln 615 TCC ATG GGC AAA CTG TAT TCA CTC AAA CAA GAT CTT CTT TCA ACA ser met gly lys leu tyr ser leu lys gln asp leu leu ser thr 630 CTG AAG AAT AAG TCA GTG ACC CAG AAG ACG GAA GCA TGG CTG GAT leu lys asn lys ser val thr gln lys thr glu ala trp leu asp 645 AAC TTT GCC CGG TGT TGG GAT AAT TTA GTC CAA AAA CTT GAA AAG asn phe ala arg cys trp asp asn leu val gln lys leu glu lys 660 AGT ACA GCA CAG ATT TCA CAG GCT GTC ACC ACC ACT CAG CCA TCA ser thr ala gln ile ser gln ala val thr thr thr gln pro ser 675 CTA ACA CAG ACA ACT GTA ATG GAA ACA GTA ACT ACG GTG ACC ACA leu thr gln thr thr val met glu thr val thr thr val thr thr 690 AGG GAA CAG ATC CTG GTA AAG CAT GCT CAA GAG GAA CTT CCA CCA arg glu gln ile leu val lys his ala gln glu glu leu pro pro 705 CCA CCT CCC CAA AAG AAG AGG CAG ATT ACT GTG GAT TCT GAA ATT pro pro pro gln lys lys arg gln ile thr val asp ser glu ile 720 AGG AAA AGG TTG GAT GTT GAT ATA ACT GAA CTT CAC AGC TGG ATT arg lys arg leu asp val asp ile thr glu leu his ser trp ile 735 ACT CGC TCA GAA GCT GTG TTG CAG AGT CCT GAA TTT GCA ATC TTT thr arg ser glu ala val leu gln ser pro glu phe ala ile phe 750 CGG AAG GAA GGC AAC TTC TCA GAC TTA AAA GAA AAA GTC AAT GCC arg lys glu gly asn phe ser asp leu lys glu lys val asn ala 765 ATA GAG CGA GAA AAA GCT GAG AAG TTC AGA AAA CTG CAA GAT GCC ile glu arg glu lys ala glu lys phe arg lys leu gln asp ala 780 AGC AGA TCA GCT CAG GCC CTG GTG GAA CAG ATG GTG AAT GAG GGT ser arg ser ala gln ala leu val glu gln met val asn glu gly 795 GTT AAT GCA GAT AGC ATC AAA CAA GCC TCA GAA CAA CTG AAC AGC val asn ala asp ser ile lys gln ala ser glu gln leu asn ser 810 CGG TGG ATC GAA TTC TGC CAG TTG CTA AGT GAG AGA CTT AAC TGG arg trp ile glu phe cys gln leu leu ser glu arg leu asn trp 825 CTG GAG TAT CAG AAC AAC ATC ATC GCT TTC TAT AAT CAG CTA CAA leu glu tyr gln asn asn ile ile ala phe tyr asn gln leu gln 840 CAA TTG GAG CAG ATG ACA ACT ACT GCT GAA AAC TGG TTG AAA ATC gln leu glu gln met thr thr thr ala glu asn trp leu lys ile 855 CAA CCC ACC ACC CCA TCA GAG CCA ACA GCA ATT AAA AGT CAG TTA gln pro thr thr pro ser glu pro thr ala ile lys ser gln leu 870 AAA ATT TGT AAG GAT GAA GTC AAC CGG CTA TCA GGT CTT CAA CCT lys ile cys lys asp glu val asn arg leu ser gly leu gln pro 885 CAA ATT GAA CGA TTA AAA ATT CAA AGC ATA GCC CTG AAA GAG AAA gln ile glu arg leu lys ile gln ser ile ala leu lys glu lys 900 GGA CAA GGA CCC ATG TTC CTG GAT GCA GAC TTT GTG GCC TTT ACA gly gln gly pro met phe leu asp ala asp phe val ala phe thr 915 AAT CAT TTT AAG CAA GTC TTT TCT GAT GTG CAG GCC AGA GAG AAA asn his phe lys gln val phe ser asp val gln ala arg glu lys 930 GAG CTA CAG ACA ATT TTT GAC ACT TTG CCA CCA ATG CGC TAT CAG glu leu gln thr ile phe asp thr leu pro pro met arg tyr gln 945 GAG ACC ATG AGT GCC ATC AGG ACA TGG GTC CAG CAG TCA GAA ACC glu thr met ser ala ile arg thr trp val gln gln ser glu thr 960 AAA CTC TCC ATA CCT CAA CTT AGT GTC ACC GAC TAT GAA ATC ATG lys leu ser ile pro gln leu ser val thr asp tyr glu ile met 975 GAG CAG AGA CTC GGG GAA TTG CAG GCT TTA CAA AGT TCT CTG CAA glu gln arg leu gly glu leu gln ala leu gln ser ser leu gln 990 GAG CAA CAA AGT GGC CTA TAC TAT CTC AGC ACC ACT GTG AAA GAG glu gln gln ser gly leu tyr tyr leu ser thr thr val lys glu 1005 ATG TCG AAG AAA GCG CCC TCT GAA ATT AGC CGG AAA TAT CAA TCA met ser lys lys ala pro ser glu ile ser arg lys tyr gln ser 1020 GAA TTT GAA GAA ATT GAG GGA CGC TGG AAG AAG CTC TCC TCC CAG glu phe glu glu ile glu gly arg trp lys lys leu ser ser gln 1035 CTG GTT GAG CAT TGT CAA AAG CTA GAG GAG CAA ATG AAT AAA CTC leu val glu his cys gln lys leu glu glu gln met asn lys leu 1050 CGA AAA ATT CAG AAT CAC ATA CAA ACC CTG AAG AAA TGG ATG GCT arg lys ile gln asn his ile gln thr leu lys lys trp met ala 1065 GAA GTT GAT GTT TTT CTG AAG GAG GAA TGG CCT GCC CTT GGG GAT glu val asp val phe leu lys glu glu trp pro ala leu gly asp 1080 TCA GAA ATT CTA AAA AAG CAG CTG AAA CAG TGC AGA CTT TTA GTC ser glu ile leu lys gly gln leu lys gln cys arg leu leu val 1095 AGT GAT ATT CAG ACA ATT CAG CCC AGT CTA AAC AGT GTC AAT GAA ser asp ile gln thr ile gln pro ser leu asn ser val asn glu 1110 GGT GGG CAG AAG ATA AAG AAT GAA GCA GAG CCA GAG TTT GCT TCG gly gly gln lys ile lys asn glu ala glu pro glu phe ala ser 1125 AGA CTT GAG ACA GAA CTC AAA GAA CTT AAC ACT CAG TGG GAT CAC arg leu glu thr glu leu lys glu leu asn thr gln trp asp his 1140 ATG TGC CAA CAG GTC TAT GCC AGA AAG GAG GCC TTG AAG GGA GGT met cys gln gln val tyr ala arg lys glu ala leu lys gly gly 1155 TTG GAG AAA ACT GTA AGC CTC CAG AAA GAT CTA TCA GAG ATG CAC leu gly lys thr val ser leu gln lys asp leu ser glu met his 1170 GAA TGG ATG ACA CAA GCT GAA GAA GAG TAT CTT GAG AGA GAT TTT glu trp met thr gln ala glu glu glu tyr leu glu arg asp phe 1185 GAA TAT AAA ACT CCA GAT GAA TTA CAG AAA GCA GTT GAA GAG ATG glu tyr lys thr pro asp glu leu gln lys ala val glu glu met 1200 AAG AGA GCT AAA GAA GAG GCC CAA CAA AAA GAA GCG AAA GTG AAA lys arg ala lys glu glu ala gln gln lys glu ala lys val lys 1215 CTC CTT ACT GAG TCT GTA AAT AGT GTC ATA GCT CAA GCT CCA CCT leu leu thr glu ser val asn ser val ile ala gln ala pro pro 1230 GTA GCA CAA GAG GCC TTA AAA AAG GAA CTT GAA ACT CTA ACC ACC val ala gln glu ala leu lys lys glu leu glu thr leu thr thr 1245 AAC TAC CAG TGG CTC TGC ACT AGG CTG AAT GGG AAA TGC AAG ACT asn tyr gln trp leu cys thr arg leu asn gly lys cys lys thr 1260
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