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