Рис. MPS 1 seq.
Нуклеотидная и аминокислотная последовательности гена альфа-L-идуронидазы (iduronidase, alpha-L) (IDUA) человека ATG CGT CCC CTG CGC CCC CGC GCC GCG CTG CTG GCG CTC CTG GCC met arg pro leu arg pro arg ala ala leu leu ala leu leu ala 15 TCG CTC CTG GCC GCG CCC CCG GTG GCC CCG GCC GAG GCC CCG CAC ser leu leu ala ala pro pro val ala pro ala glu ala pro his 30 CTG GTG CAG GTG GAC GCG GCC CGC GCG CTG TGG CCC CTG CGG CGC leu val gln val asp ala ala arg ala leu trp pro leu arg arg 45 TTC TGG AGG AGC ACA GGC TTC TGC CCC CCG CTG CCA CAC AGC CAG phe trp arg ser thr gly phe cys pro pro leu pro his ser gln 60 GCT GAC CAG TAC GTC CTC AGC TGG GAC CAG CAG CTC AAC CTC GCC ala asp gln tyr val leu ser trp asp gln gln leu asn leu ala 75 TAT GTG GGC GCC GTC CCT CAC CGC GGC ATC AAG CAG GTC CGG ACC tyr val gly ala val pro his arg gly ile lys gln val arg thr 90 CAC TGG CTG CTG GAG CTT GTC ACC ACC AGG GGG TCC ACT GGA CGG his trp leu leu glu leu val thr thr arg gly ser thr gly arg 105 GGC CTG AGC TAC AAC TTC ACC CAC CTG GAC GGG TAC TTG GAC CTT gly leu ser tyr asn phe thr his leu asp gly tyr leu asp leu 120 CTC AGG GAG AAC CAG CTC CTC CCA GGG TTT GAG CTG ATG GGC AGC leu arg glu asn gln leu leu pro gly phe glu leu met gly ser 135 GCC TCG GGC CAC TTC ACT GAC TTT GAG GAC AAG CAG CAG GTG TTT ala ser gly his phe thr asp phe glu asp lys gln gln val phe 150 GAG TGG AAG GAC TTG GTC TCC AGC CTG GCC AGG AGA TAC ATC GGT glu trp lys asp leu val ser ser leu ala arg arg tyr ile gly 165 AGG TAC GGA CTG GCG CAT GTT TCC AAG TGG AAC TTC GAG ACG TGG arg tyr gly leu ala his val ser lys trp asn phe glu thr trp 180 AAT GAG CCA GAC CAC CAC GAC TTT GAC AAC GTC TCC ATG ACC ATG asn gly pro asp his his asp phe asp asn val ser met thr met 195 CAA GGC TTC CTG AAC TAC TAC GAT GCC TGC TCG GAG GGT CTG CGC gln gly phe leu asn tyr tyr asp ala cys ser glu gly leu arg 210 GCC GCC AGC CCC GCC CTG CGG CTG GGA GGC CCC GGC GAC TCC TTC ala ala ser pro ala leu arg leu gly gly pro gly asp ser phe 225 CAC ACC CCA CCG CGA TCC CCG CTG AGC TGG GGC CTC CTG CGC CAC his thr pro pro arg ser pro leu ser trp gly leu leu arg his 240 TGC CAC GAC GGT ACC AAC TTC TTC ACT GGG GAG GCG GGC GTG CGG cys his asp gly thr asn phe phe thr gly glu ala gly val arg 255 CTG GAC TAC ATC TCC CTC CAC AGG AAG GGT GCG CGC AGC TCC ATC leu asp tyr ile ser leu his arg lys gly ala arg ser ser ile 270 TCC ATC CTG GAG CAG GAG AAG GTC GTC GCG CAG CAG ATC CGG CAG ser ile leu glu gln glu lys val val ala gln gln ile arg gln 285 CTC TTC CCC AAG TTC GCG GAC ACC CCC ATT TAC AAC GAC GAG GCG leu phe pro lys phe ala asp thr pro ile tyr asn asp glu ala 300 GAC CCG CTG GTG GGC TGG TCC CTG CCA CAG CCG TGG AGG GCG GAC asp pro leu val gly trp ser leu pro gln pro trp arg ala asp 315 GTG ACC TAC GCG GCC ATG GTG GTG AAG GTC ATC GCG CAG CAT CAG val thr tyr ala ala met val val lys val ile ala gln his gln 330 AAC CTG CTA CTG GCC AAC ACC ACC TCC GCC TTC CCC TAC GCG CTC asn leu leu leu ala asn thr thr ser ala phe pro tyr ala leu 345 CTG AGC AAC GAC AAT GCC TTC CTG AGC TAC CAC CCG CAC CCC TTC leu ser asn asp asn ala phe leu ser tyr his pro his pro phe 360 GCG CAG CGC ACG CTC ACC GCG CGC TTC CAG GTC AAC AAC ACC CGC ala gln arg thr leu thr ala arg phe gln val asn asn thr arg 375 CCG CCG CAC GTG CAG CTG TTG CGC AAG CCG GTG CTC ACG GCC ATG pro pro his val gln leu leu arg lys pro val leu thr ala met 390 GGG CTG CTG GCG CTG CTG GAT GAG GAG CAG CTC TGG GCC GAA GTG gly leu leu ala leu leu asp glu glu gln leu trp ala glu val 405 TCG CAG GCC GGG ACC GTC CTG GAC AGC AAC CAC ACG GTG GGC GTC ser gln ala gly thr val leu asp ser asn his thr val gly val 420 CTG GCC AGC GCC CAC CGC CCC CAG GGC CCG GCC GAC GCC TGG CGC leu ala ser ala his arg pro gln gly pro ala asp ala trp arg 435 GCC GCG GTG CTG ATC TAC GCG AGC GAC GAC ACC CGC GCC CAC CCC ala ala val leu ile tyr ala ser asp asp thr arg ala his pro 450 AAC CGC AGC GTC GCG GTG ACC CTG CGG CTG CGC GGG GTG CCC CCC asn arg ser val ala val thr leu arg leu arg gly val pro pro 465 GGC CCG GGC CTG GTC TAC GTC ACG CGC TAC CTG GAC AAC GGG CTC gly pro gly leu val tyr val thr arg tyr leu asp asn gly leu 480 TGC AGC CCC GAC GGC GAG TGG CGG CGC CTG GGC CGG CCC GTC TTC cys ser pro asp gly glu trp arg arg leu gly arg pro val phe 495 CCC ACG GCA GAG CAG TTC CGG CGC ATG CGC GCG GCT GAG GAC CCG pro thr ala glu gln phe arg arg met arg ala ala glu asp pro 510 GTG GCC GCG GCG CCC CGC CCC TTA CCC GCC GGC GGC CGC CTG ACC val ala ala ala pro arg pro leu pro ala gly gly arg leu thr 525 CTG CGC CCC GCG CTG CGG CTG CCG TCG CTT TTG CTG GTG CAC GTG leu arg pro ala leu arg leu pro ser leu leu leu val his val 540 TGT GCG CGC CCC GAG AAG CCG CCC GGG CAG GTC ACG CGG CTC CGC cys ala arg pro glu lys pro pro gly gln val thr arg leu arg 555 GCC CTG CCC CTG ACC CAA GGG CAG CTG GTT CTG GTC TGG TCG GAT ala leu pro leu thr gln gly gln leu val leu val trp ser asp 570 GAA CAC GTG GGC TCC AAG TGC CTG TGG ACA TAC GAG ATC CAG TTC glu his val gly ser lys cys leu trp thr tyr glu ile gln phe 585 TCT CAG GAC GGT AAG GCG TAC ACC CCG GTC AGC AGG AAG CCA TCG ser gln asp gly lys ala tyr thr pro val ser arg lys pro ser 600 ACC TTC AAC CTC TTT GTG TTC AGC CCA GAC ACA GGT GCT GTC TCT thr phe asn leu phe val phe ser pro asp thr gly ala val ser 615 GGC TCC TAC CGA GTT CGA GCC CTG GAC TAC TGG GCC CGA CCA GGC gly ser tyr arg val arg ala leu asp tyr trp ala arg pro gly 630 CCC TTC TCG GAC CCT GTG CCG TAC CTG GAG GTC CCT GTG CCA AGA pro phe ser asp pro val pro tyr leu glu val pro val pro arg 645 GGG CCC CCA TCC CCG GGC AAT CCA TGA gly pro pro ser pro gly asn pro ter
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