Рис. GLA seq.
Нуклеотидная и аминокислотная последовательности гена альфа-галактозидазы А (galactosidase alpha; GLA) человека. ATG CAG CTG AGG AAC CCA GAA CTA CAT CTG GGC TGC GCG CTT GCG met gln leu arg asn pro glu leu his leu gly cys ala leu ala 15 CTT CGC TTC CTG GCC CTC GTT TCC TGG GAC ATC CCT GGG GCT AGA leu arg phe leu ala leu val ser trp asp ile pro gly ala arg 30 GCA CTG GAC AAT GGA TTG GCA AGG ACG CCT ACC ATG GGC TGG CTG ala leu asp asn gly leu ala arg thr pro thr met gly trp leu 45 CAC TGG GAG CGC TTC ATG TGC AAC CTT GAC TGC CAG GAA GAG CCA his trp glu arg phe met cys asn leu asp cys gln glu glu pro 60 GAT TCC TGC ATC AGT GAG AAG CTC TTC ATG GAG ATG GCA GAG CTC asp ser cys ile ser glu lys leu phe met glu met ala glu leu 75 ATG GTC TCA GAA GGC TGG AAG GAT GCA GGT TAT GAG TAC CTC TGC met val ser glu gly trp lys asp ala gly tyr glu tyr leu cys 90 ATT GAT GAC TGT TGG ATG GCT CCC CAA AGA GAT TCA GAA GGC AGA ile asp asp cys trp met ala pro gln arg asp ser glu gly arg 105 CTT CAG GCA GAC CCT CAG CGC TTT CCT CAT GGG ATT CGC CAG CTA leu gln ala asp pro gln arg phe pro his gly ile arg gln leu 120 GCT AAT TAT GTT CAC AGC AAA GGA CTG AAG CTA GGG ATT TAT GCA ala asn tyr val his ser lys gly leu lys leu gly ile tyr ala 135 GAT GTT GGA AAT AAA ACC TGC GCA GGC TTC CCT GGG AGT TTT GGA asp val gly asn lys thr cys ala gly phe pro gly ser phe gly 150 TAC TAC GAC ATT GAT GCC CAG ACC TTT GCT GAC TGG GGA GTA GAT tyr tyr asp ile asp ala gln thr phe ala asp trp gly val asp 165 CTG CTA AAA TTT GAT GGT TGT TAC TGT GAC AGT TTG GAA AAT TTG leu leu lys phe asp gly cys tyr cys asp ser leu glu asn leu 180 GCA GAT GGT TAT AAG CAC ATG TCC TTG GCC CTG AAT AGG ACT GGC ala asp gly tyr lys his met ser leu ala leu asn arg thr gly 195 AGA AGC ATT GTG TAC TCC TGT GAG TGG CCT CTT TAT ATG TGG CCC arg ser ile val tyr ser cys glu trp pro leu tyr met trp pro 210 TTT CAA AAG CCC AAT TAT ACA GAA ATC CGA CAG TAC TGC AAT CAC phe gln lys pro asn tyr thr glu ile arg gln tyr cys asn his 225 TGG CGA AAT TTT GCT GAC ATT GAT GAT TCC TGG AAA AGT ATA AAG trp arg asn phe ala asp ile asp asp ser trp lys ser ile lys 240 AGT ATC TTG GAC TGG ACA TCT TTT AAC CAG GAG AGA ATT GTT GAT ser ile leu asp trp thr ser phe asn gln glu arg ile val asp 255 GTT GCT GGA CCA GGG GGT TGG AAT GAC CCA GAT ATG TTA GTG ATT val ala gly pro gly gly trp asn asp pro asp met leu val ile 270 GGC AAC TTT GGC CTC AGC TGG AAT CAG CAA GTA ACT CAG ATG GCC gly asn phe gly leu ser trp asn gln gln val thr gln met ala 285 CTC TGG GCT ATC ATG GCT GCT CCT TTA TTC ATG TCT AAT GAC CTC leu trp ala ile met ala ala pro leu phe met ser asn asp leu 300 CGA CAC ATC AGC CCT CAA GCC AAA GCT CTC CTT CAG GAT AAG GAC arg his ile ser pro gln ala lys ala leu leu gln asp lys asp 315 GTA ATT GCC ATC AAT CAG GAC CCC TTG GGC AAG CAA GGG TAC CAG val ile ala ile asn gln asp pro leu gly lys gln gly tyr gln 330 CTT AGA CAG GGA GAC AAC TTT GAA GTG TGG GAA CGA CCT CTC TCA leu arg gln gly asp asn phe glu val trp glu arg pro leu ser 345 GGC TTA GCC TGG GCT GTA GCT ATG ATA AAC CGG CAG GAG ATT GGT gly leu ala trp ala val ala met ile asn arg gln glu ile gly 360 GGA CCT CGC TCT TAT ACC ATC GCA GTT GCT TCC CTG GGT AAA GGA gly pro arg ser tyr thr ile ala val ala ser leu gly lys gly 375 GTG GCC TGT AAT CCT GCC TGC TTC ATC ACA CAG CTC CTC CCT GTG val ala cys asn pro ala cys phe ile thr gln leu leu pro val 390 AAA AGG AAG CTA GGG TTC TAT GAA TGG ACT TCA AGG TTA AGA AGT lys arg lys leu gly phe tyr glu trp thr ser arg leu arg ser 405 CAC ATA AAT CCC ACA GGC ACT GTT TTG CTT CAG CTA GAA AAT ACA his ile asn pro thr gly thr val leu leu gln leu glu asn thr 420 ATG CAG ATG TCA TTA AAA GAC TTA CTT TAA met gln met ser leu lys asp leu leu ter
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