Tttttgttttttccttcttacagaaggcactaccctggacgccgcttgcaaacgcctgaagagaaggcagggtgttcccactttttcagaatgggaccaggccctacggccccaatagcagaagcttctctaacccaggactgctcccctcaattcctcccaatatgctgaccgacagctcgacctcacctgggggcggttccgccaggggatggcttaggaaaacctcaggaagagcagcccagcgagtgacg



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Last update: 17.09.06

Nephrocystin 6 (NPHP6 / CEP290)

according to Genebank accession number AC091516 (genomic data) and NM_025114 (mRNA)


Nucleotide numbering is given in Blue

Aminoacid numbering is given in green

Colour coding of the mutations indicates the following disorders

|LCA |Joubert Syndrome |Polymorphism


-800 -790 -780 -770 -760 -750 -740

ttttt gtttt ttcct tctta cagaa ggcac taccc tggac gccgc ttgca aacgc ctgaa gagaa ggcag ggtgt

aaaaa caaaa aagga agaat gtctt ccgtg atggg acctg cggcg aacgt ttgcg gactt ctctt ccgtc ccaca
-730 -720 -710 -700 -690 -680 -670 -660

tccca ctttt tcaga atggg accag gccct acggc cccaa tagca gaagc ttctc taacc cagga ctgct cccct

agggt gaaaa agtct taccc tggtc cggga tgccg gggtt atcgt cttcg aagag attgg gtcct gacga gggga
-650 -640 -630 -620 -610 -600 -590

caatt cctcc caata tgctg accga cagct cgacc tcacc tgggg gcggt tccgc caggg gatgg cttag gaaaa

gttaa ggagg gttat acgac tggct gtcga gctgg agtgg acccc cgcca aggcg gtccc ctacc gaatc ctttt
-580 -570 -560 -550 -540 -530 -520 -510

cctca ggaag agcag cccag cgagt gacgc cactg aaacc acagt catgg tctac ctcgt tcagg ccacc agttt

ggagt ccttc tcgtc gggtc gctca ctgcg gtgac tttgg tgtca gtacc agatg gagca agtcc ggtgg tcaaa
-500 -490 -480 -470 -460 -450 -440

gcagg cgcct gagcc gctgc tcctc ccgcc tctcg gtcct tcccc gccgc cccgg taccg tcgca gtctt acgcg

cgtcc gcgga ctcgg cgacg aggag ggcgg agagc cagga agggg cggcg gggcc atggc agcgt cagaa tgcgc
-430 -420 -410 -400 -390 -380 -370 -360

ttgca tgccg ggagc gcctt acctc ctctt ctcag ggact tcagt tccca gcatg cagaa gcctc aggca gaact

aacgt acggc cctcg cggaa tggag gagaa gagtc cctga agtca agggt cgtac gtctt cggag tccgt cttga
-350 -340 -330 -320 -310 -300 -290

gcact ctggg ATTTG AAGTC CTCGT TCCAC GCCTT CTCAT CATCC TGAAC ACCGA GCTCT GGGAC TCCGG CGGAG

cgtga gaccc TAAAC TTCAG GAGCA AGGTG CGGAA GAGTA GTAGG ACTTG TGGCT CGAGA CCCTG AGGCC GCCTC
-280 -270 -260 -250 -240 -230 -220 -210

AATCT AAACG TAAAG CATCA CCCAC GGTCG TGAAC TGTAG GCTCT CCTGG CATCC GGGAT CTTAT TCTGG CCTTG

TTAGA TTTGC ATTTC GTAGT GGGTG CCAGC ACTTG ACATC CGAGA GGACC GTAGG CCCTA GAATA AGACC GGAAC
-200 -190 -180 -170 -160 -150 -140

GCGGA GTTGG GGATG GTGTC GCCTA GCAGC CGCTG CCGCT TTGGC TTGCT CGGGA CCATT TGGCT GGACC CAGAG

CGCCT CAACC CCTAC CACAG CGGAT CGTCG GCGAC GGCGA AACCG AACGA GCCCT GGTAA ACCGA CCTGG GTCTC
-130 -120 -110 -100 -90 -80 -70 -60

TCCGC GTGGA ACCGC GATAG GGATC TGTCA GGGCC CGCGG CCGGG TCCAG CTTGG TGGTT GCGGT AGTGA GAGGC

AGGCG CACCT TGGCG CTATC CCTAG ACAGT CCCGG GCGCC GGCCC AGGTC GAACC ACCAA CGCCA TCACT CTCCG
-50 -40 -30

CTCCG CTGGT TGCCA GGCTT GGTCT AGttt ttgtt ttttc cttct tacag aaggc actac cctgg acgcc gcttg

GAGGC GACCA ACGGT CCGAA CCAGA TCaaa aacaa aaaag gaaga atgtc ttccg tgatg ggacc tgcgg cgaac
caaac gcctg aagag aaggc agggt gttcc cactt tttca gaatg ggacc aggcc ctacg gcccc aatag cagaa

gtttg cggac ttctc ttccg tccca caagg gtgaa aaagt cttac cctgg tccgg gatgc cgggg ttatc gtctt


gcttc tctaa cccag gactg ctccc ctcaa ttcct cccaa tatgc tgacc gacag ctcga cctca cctgg gggcg

cgaag agatt gggtc ctgac gaggg gagtt aagga gggtt atacg actgg ctgtc gagct ggagt ggacc cccgc


IVS 1 (+ 796 bp)
gatga ttgtc ggcct tccac agacc ctcgc gcttg ccagg attag ggtgt tcgcg cgcat tgtgg gtagg ggtgt

ctact aacag ccgga aggtg tctgg gagcg cgaac ggtcc taatc ccaca agcgc gcgta acacc catcc ccaca


ggagg aaggg atcca gaaat cttaa gtatt aactt agatt agtgt tagca aggaa gccgt cacat tttat ttagc

cctcc ttccc taggt cttta gaatt cataa ttgaa tctaa tcaca atcgt tcctt cggca gtgta aaata aatcg


cggga cactc tgaca gtttg tgccg actgc tattt ttgat caagg ctatt ttgcc cactt gtcta ttttg tggcc

gccct gtgag actgt caaac acggc tgacg ataaa aacta gttcc gataa aacgg gtgaa cagat aaaac accgg


caatt gtctg ttttg ctaac atcag aaagt tataa tgaaa taatc tgcaa aaaat gtaag gtgct agaaa accaa

gttaa cagac aaaac gattg tagtc tttca atatt acttt attag acgtt tttta cattc cacga tcttt tggtt


-27 -20 -10

taata ctgtg tacct tgaaa atgct aatat acacc tgttt tgtta cagAG GTGGA GCACA GTGAA AGAAT TCAAG

attat gacac atgga acttt tacga ttata tgtgg acaaa acaat gtcTC CACCT CGTGT CACTT TCTTA AGTTC
T=Cys (3)

1 15 | 30 45 60

ATG CCA CCT AAT ATA AAC TGG AAA GAA ATA ATG AAA GTT GAC CCA GAT GAC CTG CCC CGT CAA GAA

TAC GGT GGA TTA TAT TTG ACC TTT CTT TAT TAC TTT CAA CTG GGT CTA CTG GAC GGG GCA GTT CTT

Met Pro Pro Asn Ile Asn Trp Lys Glu Ile Met Lys Val Asp Pro Asp Asp Leu Pro Arg Gln Glu

M P P N I N W K E I M K V D P D D L P R Q E

1 5 10 15 20


75 90 102

GAA CTG GCA GAT AAT TTA TTG ATT TCC TTA TCC AAG gtgct taatt ggtca ataat aatag atata tacat

CTT GAC CGT CTA TTA AAT AAC TAA AGG AAT AGG TTC cacga attaa ccagt tatta ttatc tatat atgta

Glu Leu Ala Asp Asn Leu Leu Ile Ser Leu Ser Lys

E L A D N L L I S L S K

25 30 34
taact tatga ttaat ttatt aataa aatat gaatt tattt ttttc aggga caact ataat tgtca caatc tggaa

attga atact aatta aataa ttatt ttata cttaa ataaa aaaag tccct gttga tatta acagt gttag acctt
IVS 2

103


gt gttct tatat tttgc ttgaa ggtta taaaa tataa aacag ttgct tttct gttta cttag GTG GAA GTA

ca caaga atata aaacg aactt ccaat atttt atatt ttgtc aacga aaaga caaat gaatc CAC CTT CAT

Val Glu Val

V E V


35
120 135 150 165

AAT GAG CTA AAA AGT GAA AAG CAA GAA AAT GTG ATA CAC CTT TTC AGA ATT ACT CAG TCA CTA ATG

TTA CTC GAT TTT TCA CTT TTC GTT CTT TTA CAC TAT GTG GAA AAG TCT TAA TGA GTC AGT GAT TAC

Asn Glu Leu Lys Ser Glu Lys Gln Glu Asn Val Ile His Leu Phe Arg Ile Thr Gln Ser Leu Met

N E L K S E K Q E N V I H L F R I T Q S L M

40 45 50 55


t (1)

180 |


AAG gtttg tatgt agtag gtttt aacta taggt ttggc tatta gtgga actat aaaaa tctgt tctta tataa

TTC caaac ataca tcatc caaaa ttgat atcca aaccg ataat cacct tgata ttttt agaca agaat atatt

Lys

K

60


ggtaa tcttt gtgaa aatac ctggt aatat ctaca tcacc actaa aaaat gcaat atatt taaat gtgaa ttaag

ccatt agaaa cactt ttatg gacca ttata gatgt agtgg tgatt tttta cgtta tataa attta cactt aattc


tattt tagtg tataa aacat tgcta gtttc tactt aaagt ttcta aaagg gtgtg taggg gaaat agaat gagta

ataaa atcac atatt ttgta acgat caaag atgaa tttca aagat tttcc cacac atccc cttta tctta ctcat


IVS 3 (+ 946 bp)
tgcca ctgca ctcca gcctg ggtga caaag tgagg cccta tctca aaagc aaaaa aaaca aaaac aaaaa ccaaa

acggt gacgt gaggt cggac ccact gtttc actcc gggat agagt tttcg ttttt tttgt ttttg ttttt ggttt


aacta tttat tcagc aaata tttac tgaac gtctc catgt gccag ccatt gctgg cacta aggat cataa caaat

ttgat aaata agtcg tttat aaatg acttg cagag gtaca cggtc ggtaa cgacc gtgat tccta gtatt gttta


aaaac agaat tttta ttttc agtgc ttaca ttcca gtata aaggc atatt gaaat aacct ttttt taatg tttag

ttttg tctta aaaat aaaag tcacg aatgt aaggt catat ttccg tataa cttta ttgga aaaaa attac aaatc


181 195 210 225 240

ATG AAA GCT CAA GAA GTG GAG CTG GCT TTG GAA GAA GTA GAA AAA GCT GGA GAA GAA CAA GCA AAA

TAC TTT CGA GTT CTT CAC CTC GAC CGA AAC CTT CTT CAT CTT TTT CGA CCT CTT CTT GTT CGT TTT

Met Lys Ala Gln Glu Val Glu Leu Ala Leu Glu Glu Val Glu Lys Ala Gly Glu Glu Gln Ala Lys

M K A Q E V E L A L E E V E K A G E E Q A K

61 65 70 75 80


250

TTT G gtaag cacct tggaa aaagt ttatt atggt attaa ataat gaatt ccatt tgttc attaa actgt agaaa

AAA C cattc gtgga acctt tttca aataa tacca taatt tatta cttaa ggtaa acaag taatt tgaca tcttt

Phe Glu


F E

84
attaa attat attct ataaa atata tatat tcagt ttatt tttaa tatat aacat ttaat aataa atatt tctag

taatt taata taaga tattt tatat atata agtca aataa aaatt atata ttgta aatta ttatt tataa agatc
actcc tattt tatgg atctg ccata taata ctttt tgtta cctta taatc atgat ggact ctttt aaaag aatta

tgagg ataaa atacc tagac ggtat attat gaaaa acaat ggaat attag tacta cctga gaaaa ttttc ttaat


IVS 4
att ttgtt attga aattt attta aaagt ttgtt ttgtg gtaac taatc aatta aaacg ttttt ctttt ttttt

taa aacaa taact ttaaa taaat tttca aacaa aacac cattg attag ttaat tttgc aaaaa gaaaa aaaaa


insA (1)

251 255 | 270 285 297

aaaaa aatag AA AAT CAA TTA AAA ACT AAA GTA ATG AAA CTG GAA AAT GAA CTG GAG gtatg tcttt

ttttt ttatc TT TTA GTT AAT TTT TGA TTT CAT TAC TTT GAC CTT TTA CTT GAC CTC catac agaaa

Glu Asn Gln Leu Lys Thr Lys Val Met Lys Leu Glu Asn Glu Leu Glu

E N Q L K T K V M K L E N E L E

84 85 90 95 99
ttgta ttccc tagga tgtaa ttgtc attaa tttta ttttg aattg ttttc aaatt ttaaa attat tgttg gctgg

aacat aaggg atcct acatt aacag taatt aaaat aaaac ttaac aaaag tttaa aattt taata acaac cgacc


aaaaa ttata aggat gattg taatc atggt tattt gttta ttctg tatat gttct acatg cctat tatgt gcctt

ttttt aatat tccta ctaac attag tacca ataaa caaat aagac atata caaga tgtac ggata ataca cggaa


atata gtact aagga ctgag catat ggttg tgaac aaaat aagaa gttaa ctgct ggatg gagct tatag tcttg

tatat catga ttcct gactc gtata ccaac acttg tttta ttctt caatt gacga cctac ctcga atatc agaac


IVS 5(+ 1898 bp)
gcatc tctgg gtggc tcagg aaaaa tttaa ggagt tatta gctgt gaact aacct taagt aagtt aaatt aaaaa

cgtag agacc caccg agtcc ttttt aaatt cctca ataat cgaca cttga ttgga attca ttcaa tttaa ttttt


aaaaa aagtt cttaa gctaa tatga tttta aatat ctgca ctgaa gtata atgca aattt aaatt cagca taatt

ttttt ttcaa gaatt cgatt atact aaaat ttata gacgt gactt catat tacgt ttaaa tttaa gtcgt attaa


atttg cttgt tgttg actca tttga acctc aaaat ataat gggat taatt tatac tttgg gttta ttact ttaag

taaac gaaca acaac tgagt aaact tggag tttta tatta cccta attaa atatg aaacc caaat aatga aattc


298 315 330 345 360

ATG GCT CAG CAG TCT GCA GGT GGA CGA GAT ACT CGG TTT TTA CGT AAT GAA ATT TGC CAA CTT GAA

TAC CGA GTC GTC AGA CGT CCA CCT GCT CTA TGA GCC AAA AAT GCA TTA CTT TAA ACG GTT GAA CTT

Met Ala Gln Gln Ser Ala Gly Gly Arg Asp Thr Arg Phe Leu Arg Asn Glu Ile Cys Gln Leu Glu

M A Q Q S A G G R D T R F L R N E I C Q L E

100 105 110 115 120


375 390 405 420

AAA CAA TTA GAA CAA AAA GAT AGA GAA TTG GAG GAC ATG GAA AAG GAG TTG GAG AAA GAG AAG AAA

TTT GTT AAT CTT GTT TTT CTA TCT CTT AAC CTC CTG TAC CTT TTC CTC AAC CTC TTT CTC TTC TTT

Lys Gln Leu Glu Gln Lys Asp Arg Glu Leu Glu Asp Met Glu Lys Glu Leu Glu Lys Glu Lys Lys

K Q L E Q K D R E L E D M E K E L E K E K K

125 130 135 140


435 441

GTT AAT GAG CAA gtaaa gcact ttttt tttcc atgaa tcttc actgt tcaag ttacc tggct tttta ttatt

CAA TTA CTC GTT cattt cgtga aaaaa aaagg tactt agaag tgaca agttc aatgg accga aaaat aataa

Val Asn Glu Gln

V N E Q

145 147
attgg taaca atatc aattt ttata ttgta tgtta tattt gaaaa atgat gtaca cttat ctcta aggtt ttata

taacc attgt tatag ttaaa aatat aacat acaat ataaa ctttt tacta catgt gaata gagat tccaa aatat
tcact gttca ttttg tcatc accaa tttta aaata taatg gtact tctag tgaat atgac ttgaa gatta attct

agtga caagt aaaac agtag tggtt aaaat tttat attac catga agatc actta tactg aactt ctaat taaga


ttata tttgg aagta cattt ttctc aggac atcaa acttg ttacc taaaa ttaat gcttt tgtct ggaag attgg

aatat aaacc ttcat gtaaa aagag tcctg tagtt tgaac aatgg atttt aatta cgaaa acaga ccttc taacc


IVS 6 (+ 4914 bp)
taaaa ataca aaaat tagcc agtta tggta atgca tgcca gtaat tccag ctact cggta ggctg aggtg ggaga

atttt tatgt tttta atcgg tcaat accat tacgt acggt catta aggtc gatga gccat ccgac tccac cctct


attgc ttgaa ccggg aggca gaggt tgcag tgagc cgaga tcgca ccact gtact ccagc ctagg cgaca aagac

taacg aactt ggccc tccgt ctcca acgtc actcg gctct agcgt ggtga catga ggtcg gatcc gctgt ttctg


tttgt ctcaa aaaaa aaaaa aatta ctgct gaatt ttatc ttctt cttat ttatt ttttt ttttt actat tttag

aaaca gagtt ttttt ttttt ttaat gacga cttaa aatag aagaa gaata aataa aaaaa aaaaa tgata aaatc


442 450 465 480 495

TTG GCT CTT CGA AAT GAG GAG GCA GAA AAT GAA AAC AGC AAA TTA AGA AGA GAG gtaaa aaatt ttagt

AAC CGA GAA GCT TTA CTC CTC CGT CTT TTA CTT TTG TCG TTT AAT TCT TCT CTC cattt tttaa aatca

Leu Ala Leu Arg Asn Glu Glu Ala Glu Asn Glu Asn Ser Lys Leu Arg Arg Glu

L A L R N E E A E N E N S K L R R E

148 150 155 160 165


agttg tggtg gttca acaaa ggtac ttatt aaaat aagta cctaa gttta cataa attta tattt taacc aggac

tcaac accac caagt tgttt ccatg aataa tttta ttcat ggatt caaat gtatt taaat ataaa attgg tcctg


tggag tcttc taagt aactg atgtt ttcag actga tttta tggta tgact ttgtc tcagg gaaat agaaa acaaa

acctc agaag attca ttgac tacaa aagtc tgact aaaat accat actga aacag agtcc cttta tcttt tgttt


gcaaa atgtg aggcc attaa gtatt acatt catct caggt ctatg cgggt aaatc ttttt ttgtt gtttt ataag

cgttt tacac tccgg taatt cataa tgtaa gtaga gtcca gatac gccca tttag aaaaa aacaa caaaa tattc


IVS 7
ataa gccat tcttt gctag ttttc taatt gaata gatga ctgga tttct attct tattt ctctt accca gaatc

tatt cggta agaaa cgatc aaaag attaa cttat ctact gacct aaaga taaga ataaa gagaa tgggt cttag


cttta aaatt ttttg ttact tgtgg aatct tataa attct gatta tcatt tggtt ctact gagcc aaata atgtt

gaaat tttaa aaaac aatga acacc ttaga atatt taaga ctaat agtaa accaa gatga ctcgg tttat tacaa


tgtac attgt ttatt ctgat agaag ttctt aagtt tctaa cataa ttgaa atatt atttg ttttg gtaga taatt

acatg taaca aataa gacta tcttc aagaa ttcaa agatt gtatt aactt tataa taaac aaaac catct attaa


agtat tcttt ctttg gttat tcaag ataat atgca tcatt ttccc aaaat ttttt tgttt tcttt agttt ctgat

tcata agaaa gaaac caata agttc tatta tacgt agtaa aaggg tttta aaaaa acaaa agaaa tcaaa gacta


496

tatta ttttt aatta tgtat tacct ttctc atttc taatt accgt tttcc tgtcc ttttc tgtag AAC AAA CGT

ataat aaaaa ttaat acata atgga aagag taaag attaa tggca aaagg acagg aaaag acatc TTG TTT GCA

Asn Lys Arg

N K R

166
510 516



CTA AAG AAA AAG gtgag gcttt aagtg tggtg aaatc ttggg aattt aaaat atgtt gtgag agcac tattt

GAT TTC TTT TTC cactc cgaaa ttcac accac tttag aaccc ttaaa tttta tacaa cactc tcgtg ataaa

Leu Lys Lys Lys

L K K K


170 172
IVS 8

517 525


agag gatat gattt tgtta ttctg aatag ttttg taatt gaatg ttgtg tttgg ttacc ttcag AAT GAA CAA

tctc ctata ctaaa acaat aagac ttatc aaaac attaa cttac aacac aaacc aatgg aagtc TTA CTT GTT

Asn Glu Gln

N E Q


173 175
540 555 570 585

CTT TGT CAG GAT ATT ATT GAC TAC CAG AAA CAA ATA GAT TCA CAG AAA GAA ACA CTT TTA TCA AGA

GAA ACA GTC CTA TAA TAA CTG ATG GTC TTT GTT TAT CTA AGT GTC TTT CTT TGT GAA AAT AGT TCT

Leu Cys Gln Asp Ile Ile Asp Tyr Gln Lys Gln Ile Asp Ser Gln Lys Glu Thr Leu Leu Ser Arg

L C Q D I I D Y Q K Q I D S Q K E T L L S R

180 185 190 195


600 615 630 645

AGA GGG GAA GAC AGT GAC TAC CGA TCA CAG TTG TCT AAA AAA AAC TAT GAG CTT ATC CAA TAT CTT

TCT CCC CTT CTG TCA CTG ATG GCT AGT GTC AAC AGA TTT TTT TTG ATA CTC GAA TAG GTT ATA GAA

Arg Gly Glu Asp Ser Asp Tyr Arg Ser Gln Leu Ser Lys Lys Asn Tyr Glu Leu Ile Gln Tyr Leu

R G E D S D Y R S Q L S K K N Y E L I Q Y L

200 205 210 215


660 669

GAT GAA ATT CAG gtaaa atggc tagaa gtcaa ttcag agcaa tggtt cctaa aaact ttaat ttcat tacaa

CTA CTT TAA GTC cattt taccg atctt cagtt aagtc tcgtt accaa ggatt tttga aatta aagta atgtt

Asp Glu Ile Gln

D E I Q

220 223
tgtaa atata atatt tagcc ctaca tgtaa attcc ctggt ataaa tctgt cacta tgtac ttgta aaatg tgaaa

acatt tatat tataa atcgg gatgt acatt taagg gacca tattt agaca gtgat acatg aacat tttac acttt
taaat tacat ctttg aagtt gcaac ttttt agcca ttttt atatt tgcct gtctt ggtca ttaag aacaa ttgag

attta atgta gaaac ttcaa cgttg aaaaa tcggt aaaaa tataa acgga cagaa ccagt aattc ttgtt aactc


IVS 9
g tcctt atgta ctatt ttctt gattc aattt gattt aattg gtcaa tgcca attag taaag gtcta taaag

c aggaa tacat gataa aagaa ctaag ttaaa ctaaa ttaac cagtt acggt taatc atttc cagat atttc


aattc tcttt ttttc tagag gacac ttatg gctgc gttta atttt aattt ggttt aaatt tcagt ttttt taaaa

ttaag agaaa aaaag atctc ctgtg aatac cgacg caaat taaaa ttaaa ccaaa tttaa agtca aaaaa atttt


del (1)

670 675 || 690 705

ttact tttta attat agtgt cttta acttt tttag ACT TTA ACA GAA GCT AAT GAG AAA ATT GAA GTT CAG

aatga aaaat taata tcaca gaaat tgaaa aaatc TGA AAT TGT CTT CGA TTA CTC TTT TAA CTT CAA GTC

Thr Leu Thr Glu Ala Asn Glu Lys Ile Glu Val Gln

T L T E A N E K I E V Q

224 225 230 235

720 735 750 765

AAT CAA GAA ATG AGA AAA AAT TTA GAA GAG TCT GTA CAG GAA ATG GAG AAG ATG ACT GAT GAA TAT

TTA GTT CTT TAC TCT TTT TTA AAT CTT CTC AGA CAT GTC CTT TAC CTC TTC TAC TGA CTA CTT ATA

Asn Gln Glu Met Arg Lys Asn Leu Glu Glu Ser Val Gln Glu Met Glu Lys Met Thr Asp Glu Tyr

N Q E M R K N L E E S V Q E M E K M T D E Y

240 245 250 255
780 795 810 825

AAT AGA ATG AAA GCT ATT GTG CAT CAG ACA GAT AAT GTA ATA GAT CAG TTA AAA AAA GAA AAC GAT

TTA TCT TAC TTT CGA TAA CAC GTA GTC TGT CTA TTA CAT TAT CTA GTC AAT TTT TTT CTT TTG CTA

Asn Arg Met Lys Ala Ile Val His Gln Thr Asp Asn Val Ile Asp Gln Leu Lys Lys Glu Asn Asp

N R M K A I V H Q T D N V I D Q L K K E N D

260 265 270 275


840 852

CAT TAT CAA CTT CAA gtaag aatta ctttt agaat aactt attta ttcag acttc atatt atctc attac

GTA ATA GTT GAA GTT cattc ttaat gaaaa tctta ttgaa taaat aagtc tgaag tataa tagag taatg

His Tyr Gln Leu Gln

H Y Q L Q

280 284
tattt atttg acact agaaa gtact ttttc tagga tgtga atttt tgtct gtctt tttaa tagtg taata tcttg

ataaa taaac tgtga tcttt catga aaaag atcct acact taaaa acaga cagaa aaatt atcac attat agaac
tcatg ttggt atatt tgtcc atatg tgttt ctcca atcac ctcac aaaca ctaat ttttg caatt tagga tatat

agtac aacca tataa acagg tatac acaaa gaggt tagtg gagtg tttgt gatta aaaac gttaa atcct atata


aaatg atact tgaat gaatg tgtag atagc agtca ttatg gggtt ttcta taaaa gacta ctgaa aatcc tgtgg

tttac tatga actta cttac acatc tatcg tcagt aatac cccaa aagat atttt ctgat gactt ttagg acacc


IVS 10 (+ 153 bp)
ataag atgca gaaac tatta aatgt cacct ataat tccag gatga cttca atgat aaata cacat atgta atgta

tattc tacgt ctttg ataat ttaca gtgga tatta aggtc ctact gaagt tacta tttat gtgta tacat tacat


atgta tccgt atgta tgtgt atata agtat gaata cgtat gtgtg tgtat gtaga tatat ttata tatat aatgt

tacat aggca tacat acaca tatat tcata cttat gcata cacac acata catct atata aatat atata ttaca


atatg taaat atgca caggt gtaaa tatat gttac atcag tttgc aacaa ctctt gaaat aactt tgtct tttag

tatac attta tacgt gtcca cattt atata caatg tagtc aaacg ttgtt gagaa cttta ttgaa acaga aaatc


853 870 885 900 915

GTG CAG GAG CTT ACA GAT CTT CTG AAA TCA AAA AAT GAA GAA GAT GAT CCA ATT ATG GTA GCT GTC

CAC GTC CTC GAA TGT CTA GAA GAC TTT AGT TTT TTA CTT CTT CTA CTA GGT TAA TAC CAT CGA CAG

Val Gln Glu Leu Thr Asp Leu Leu Lys Ser Lys Asn Glu Glu Asp Asp Pro Ile Met Val Ala Val

V Q E L T D L L K S K N E E D D P I M V A V

285 290 295 300 305


930 942

AAT GCA AAA GTA GAA GAA TGG AAG gtatt ttttt tcaat tgaca taata acttt ttctt tttgt atttt

TTA CGT TTT CAT CTT CTT ACC TTC cataa aaaaa agtta actgt attat tgaaa aagaa aaaca taaaa

Asn Ala Lys Val Glu Glu Trp Lys

N A K V E E W K

310 314
agatt taaat tttag tctta ttttt cttta aatgt cttat actgg tttat aacac gttta ttagg gtttt taaac

tctaa attta aaatc agaat aaaaa gaaat ttaca gaata tgacc aaata ttgtg caaat aatcc caaaa atttg
ataag tttat tttat ttatt ggtta gaaaa gctct agaac tgtcc ttttt gatct ctagc taatt tgtta ttgaa

tattc aaata aaata aataa ccaat ctttt cgaga tcttg acagg aaaaa ctaga gatcg attaa acaat aactt


tgacc tcttt cacat caatg agttt aactt taaac ttttt gatag aagtc taact ccaaa atata tttgg catct

actgg agaaa gtgta gttac tcaaa ttgaa atttg aaaaa ctatc ttcag attga ggttt tatat aaacc gtaga


IVS 11 (+ 2012 bp)
aaaag aaaat tcggt atata tttta aaatc atttt ctatt tgaat ttcag gttgt atata caaaa ggaac agaga

ttttc tttta agcca tatat aaaat tttag taaaa gataa actta aagtc caaca tatat gtttt ccttg tctct


ttatg ccagt agttg ctcat acttt ctcat ttcaa ataat tttta ttttc tgtat cataa atcta ctaac ggtgt

aatac ggtca tcaac gagta tgaaa gagta aagtt tatta aaaat aaaag acata gtatt tagat gattg ccaca


ttatt attta tgata atgaa gaatg tttta ttaac tttcc ttttg cataa cagat tctat tgtgt ttatt tctag

aataa taaat actat tactt cttac aaaat aattg aaagg aaaac gtatt gtcta agata acaca aataa agatc


943 960 975 990 1005

CTA ATT TTG TCT TCT AAA GAT GAT GAA ATT ATT GAG TAT CAG CAA ATG TTA CAT AAC CTA AGG GAG

GAT TAA AAC AGA AGA TTT CTA CTA CTT TAA TAA CTC ATA GTC GTT TAC AAT GTA TTG GAT TCC CTC

Leu Ile Leu Ser Ser Lys Asp Asp Glu Ile Ile Glu Tyr Gln Gln Met Leu His Asn Leu Arg Glu

L I L S S K D D E I I E Y Q Q M L H N L R E

315 320 325 330 335


1020 1035 1050 1065

AAA CTT AAG AAT GCT CAG CTT GAT GCT GAT AAA AGT AAT GTT ATG GCT CTA CAG CAG gtaaa atctt

TTT GAA TTC TTA CGA GTC GAA CTA CGA CTA TTT TCA TTA CAA TAC CGA GAT GTC GTC cattt tagaa

Lys Leu Lys Asn Ala Gln Leu Asp Ala Asp Lys Ser Asn Val Met Ala Leu Gln Gln

K L K N A Q L D A D K S N V M A L Q Q

340 345 350 355


aacag aattt tgttt atcaa ccagt tttat tacag ttgga actct gaacg atgtc tttta tttat tatat catca

ttgtc ttaaa acaaa tagtt ggtca aaata atgtc aacct tgaga cttgc tacag aaaat aaata atata gtagt


gtgcc tagtg tagcg gctgg tacta ccaag tgtat aataa tgtct tttga aattt cttct accac ctggt cccaa

cacgg atcac atcgc cgacc atgat ggttc acata ttatt acaga aaact ttaaa gaaga tggtg gacca gggtt


taaaa aatta gaatt aagtt tagat cacgg attag actta gaact agagt tactg tgttt atttt tctat gttta

atttt ttaat cttaa ttcaa atcta gtgcc taatc tgaat cttga tctca atgac acaaa taaaa agata caaat


IVS 12 (+ 486 bp)
ttcca gagtg ttagc catta tatcc atctt tcagt attgg agtaa cagca gtgta cctat cattg tgtat tacag

aaggt ctcac aatcg gtaat atagg tagaa agtca taacc tcatt gtcgt cacat ggata gtaac acata atgtc


ttgaa gtgta caaaa tggta aaagg catac ttgta cccac aagaa aatat gttct acagt cttgt tgaaa aaaat

aactt cacat gtttt accat tttcc gtatg aacat gggtg ttctt ttata caaga tgtca gaaca acttt tttta


cagac gtact ttttt cctta ccttt ttagg ttaat attca tgaag ggata tatat tgttt taaaa tattt tatag

gtctg catga aaaaa ggaat ggaaa aatcc aatta taagt acttc cctat atata acaaa atttt ataaa atatc


1066 1080 1095 1110 1125

GGT ATA CAG GAA CGA GAC AGT CAA ATT AAG ATG CTC ACC GAA CAA GTA GAA CAA TAT ACA AAA GAA

CCA TAT GTC CTT GCT CTG TCA GTT TAA TTC TAC GAG TGG CTT GTT CAT CTT GTT ATA TGT TTT CTT

Gly Ile Gln Glu Arg Asp Ser Gln Ile Lys Met Leu Thr Glu Gln Val Glu Gln Tyr Thr Lys Glu

G I Q E R D S Q I K M L T E Q V E Q Y T K E

356 360 365 370 375


1140 1155 1170 1185 1189

ATG GAA AAG AAT ACT TGT ATT ATT GAA GAT TTG AAA AAT GAG CTC CAA AGA AAC AAA G gtatt tttat

TAC CTT TTC TTA TGA ACA TAA TAA CTT CTA AAC TTT TTA CTC GAG GTT TCT TTG TTT C cataa aaata

Met Glu Lys Asn Thr Cys Ile Ile Glu Asp Leu Lys Asn Glu Leu Gln Arg Asn Lys Gly

M E K N T C I I E D L K N E L Q R N K G

380 385 390 395 397


aaata tatag ttatt ttata tacaa ttatg ttttt aacga cttta ttttt attaa aataa aatgt caagt caata

tttat atatc aataa aatat atgtt aatac aaaaa ttgct gaaat aaaaa taatt ttatt ttaca gttca gttat


ttgag ttttc tccat ttgaa tttta tattt tcaaa aaatt gtaca agata tttat tatta tactt atatt actag

aactc aaaag aggta aactt aaaat ataaa agttt tttaa catgt tctat aaata ataat atgaa tataa tgatc


tgctt acatt tgtaa atgat ggatg cattt tctat tattt ttctc ctctg gtgaa aatta catta acgtt tatta

acgaa tgtaa acatt tacta cctac gtaaa agata ataaa aagag gagac cactt ttaat gtaat tgcaa ataat


IVS 13 (+ 3619 bp)
ttaaa atcca taccc cttca gctaa gaagg tttta ctgaa cttca gtttt ttagt aaatt gtatt agtaa aacca

aattt taggt atggg gaagt cgatt cttcc aaaat gactt gaagt caaaa aatca tttaa cataa tcatt ttggt


aaaca aaact ttcat cttac aaata taaaa tgaca acttt aaagg atttt ttttt aatgg catac cactt ttctt

tttgt tttga aagta gaatg tttat atttt actgt tgaaa tttcc taaaa aaaaa ttacc gtatg gtgaa aagaa


gccac catgt tggga tcact gattt gaagg aataa gtagt caatt caatt catga ttttt gtttt tactc tgtag

cggtg gtaca accct agtga ctaaa cttcc ttatt catca gttaa gttaa gtact aaaaa caaaa atgag acatc


1190 1200 1215 1230 1245

GT GCT TCA ACC CTT TCT CAA CAG ACT CAT ATG AAA ATT CAG TCA ACG TTA GAC ATT TTA AAA GAG

CA CGA AGT TGG GAA AGA GTT GTC TGA GTA TAC TTT TAA GTC AGT TGC AAT CTG TAA AAT TTT CTC

Gly Ala Ser Thr Leu Ser Gln Gln Thr His Met Lys Ile Gln Ser Thr Leu Asp Ile Leu Lys Glu

G A S T L S Q Q T H M K I Q S T L D I L K E

397 400 405 410 415


1260 1275 1290 1305 1320

AAA ACT AAA GAG GCT GAG AGA ACA GCT GAA CTG GCT GAG GCT GAT GCT AGG GAA AAG GAT AAA GAA

TTT TGA TTT CTC CGA CTC TCT TGT CGA CTT GAC CGA CTC CGA CTA CGA TCC CTT TTC CTA TTT CTT

Lys Thr Lys Glu Ala Glu Arg Thr Ala Glu Leu Ala Glu Ala Asp Ala Arg Glu Lys Asp Lys Glu

K T K E A E R T A E L A E A D A R E K D K E

420 425 430 435 440


1335 1350 1359

TTA GTT GAG GCT CTG AAG AGG TTA AAA GAT TAT GAA TCG gtatg tattt ttatc ttgtc attca aggag

AAT CAA CTC CGA GAC TTC TCC AAT TTT CTA ATA CTT AGC catac ataaa aatag aacag taagt tcctc

Leu Val Glu Ala Leu Lys Arg Leu Lys Asp Tyr Glu Ser

L V E A L K R L K D Y E S

445 450 453


cttag aatta ttctt gccat tcaca gacta ttctg tgcta tttac tgcat accat ttaaa aaaca ttcca taagt

gaatc ttaat aagaa cggta agtgt ctgat aagac acgat aaatg acgta tggta aattt tttgt aaggt attca


atctt ttgat aaaga ttatc ctcat taatt tatac taaac tattg aaacc tttga gcatt tactt tttgc cagaa

tagaa aacta tttct aatag gagta attaa atatg atttg ataac tttgg aaact cgtaa atgaa aaacg gtctt


ttgtt ttcaa acttt tgatc acagt gattt gtcca aataa tcagt tttgg tgaag cagca ggatt acttt ttttt

aacaa aagtt tgaaa actag tgtca ctaaa caggt ttatt agtca aaacc acttc gtcgt cctaa tgaaa aaaaa


IVS 14 (+ 240 bp )
acttt gcctt tagga tatta tactg gaaag tttta actgt tgcat attac atcat tatta ttact ggatt tggtt

tgaaa cggaa atcct ataat atgac ctttc aaaat tgaca acgta taatg tagta ataat aatga cctaa accaa


tataa aagca caata aaaaa ccagt gtaat gatat aaatt atagg catat gtaca ttttc cttta gactt agtaa

atatt ttcgt gttat ttttt ggtca catta ctata tttaa tatcc gtata catgt aaaag gaaat ctgaa tcatt


aaaaa aaatc atgaa cttga taaat ttatt caagt aaacc atgtt atatt ttaaa ttaaa ttgga tattt ttcag

ttttt tttag tactt gaact attta aataa gttca tttgg tacaa tataa aattt aattt aacct ataaa aagtc


1360 1365 1380 1395 1410 1425

GGA GTA TAT GGT TTA GAA GAT GCT GTC GTT GAA ATA AAG AAT TGT AAA AAC CAA ATT AAA ATA AGA

CCT CAT ATA CCA AAT CTT CTA CGA CAG CAA CTT TAT TTC TTA ACA TTT TTG GTT TAA TTT TAT TCT

Gly Val Tyr Gly Leu Glu Asp Ala Val Val Glu Ile Lys Asn Cys Lys Asn Gln Ile Lys Ile Arg

G V Y G L E D A V V E I K N C K N Q I K I R

454 455 460 465 470 475


1440 1455 1470 1485

GAT CGA GAG ATT GAA ATA TTA ACA AAG GAA ATC AAT AAA CTT GAA TTG AAG ATC AGT GAT TTC CTT

CTA GCT CTC TAA CTT TAT AAT TGT TTC CTT TAG TTA TTT GAA CTT AAC TTC TAG TCA CTA AAG GAA

Asp Arg Glu Ile Glu Ile Leu Thr Lys Glu Ile Asn Lys Leu Glu Leu Lys Ile Ser Asp Phe Leu

D R E I E I L T K E I N K L E L K I S D F L

480 485 490 495


1500 1515 1522

GAT GAA AAT GAG GCA CTT AGA GAG CGT GTG G gtaag ccatg tttta agtta catag tttgc gcaac ctgat

CTA CTT TTA CTC CGT GAA TCT CTC GCA CAC C cattc ggtac aaaat tcaat gtatc aaacg cgttg gacta

Asp Glu Asn Glu Ala Leu Arg Glu Arg Val Gly

D E N E A L R E R V G

500 505 508


ttaca agtct ttttt tttaa tttaa atttt gttta ttatt attta ttaag tagtt taatg ctttt ttcaa atgct

aatgt tcaga aaaaa aaatt aaatt taaaa caaat aataa taaat aattc atcaa attac gaaaa aagtt tacga


tttat aaaac attta ataca aataa aagtg gagct aacct gattg aagtg gaatc agatt ttatg gggtt ggagt

aaata ttttg taaat tatgt ttatt ttcac ctcga ttgga ctaac ttcac cttag tctaa aatac cccaa cctca


ggtgg gtggg caggg ctgga acatt gcttt atttg gtcta gcatc tcctc agtaa tagct gcttg tttaa aaaga

ccacc caccc gtccc gacct tgtaa cgaaa taaac cagat cgtag aggag tcatt atcga cgaac aaatt tttct


IVS 15 (+ 880 bp)
tttat aattt cattt aggtt tttgt tagga tttcc attaa taatt gtgat aaaat tttaa cttgg gttac agttt

aaata ttaaa gtaaa tccaa aaaca atcct aaagg taatt attaa cacta tttta aaatt gaacc caatg tcaaa


aaata tctgg aaaat tcttt cacag aaagt tacct cattc ttcag tgata ctggc taagt gaatt ataac cagtt

tttat agacc tttta agaaa gtgtc tttca atgga gtaag aagtc actat gaccg attca cttaa tattg gtcaa


gcttg atggt atatg acatt tttgc agctt atttg aatgt tttta agttt ttaat tatat tgctt tctat tgtag

cgaac tacca tatac tgtaa aaacg tcgaa taaac ttaca aaaat tcaaa aatta atata acgaa agata acatc


del (1)

1523 1530 1545 | 1560 1575

GC CTT GAA CCA AAG ACA ATG ATT GAT TTA ACT GAA TTT AGA AAT AGC AAA CAC TTA AAA CAG CAG

CG GAA CTT GGT TTC TGT TAC TAA CTA AAT TGA CTT AAA TCT TTA TCG TTT GTG AAT TTT GTC GTC

Gly Leu Glu Pro Lys Thr Met Ile Asp Leu Thr Glu Phe Arg Asn Ser Lys His Leu Lys Gln Gln

G L E P K T M I D L T E F R N S K H L K Q Q

508 510 515 520 525
1590 1605 1620 1623

CAG TAC AGA GCT GAA AAC CAG ATT CTT TTG AAA GAG gcaag tgtgg tagtc agttg attat tttct tggct

GTC ATG TCT CGA CTT TTG GTC TAA GAA AAC TTT CTC cgttc acacc atcag tcaac taata aaaga accga

Gln Tyr Arg Ala Glu Asn Gln Ile Leu Leu Lys Glu

Q Y R A E N Q I L L K E

530 535 540 541


IVS 16

1624 1635 1650

ga actat agaga aatac taata attta tactt tgcag ATT GAA AGT CTA GAG GAA GAA CGA CTT GAT CTG

ct tgata tctct ttatg attat taaat atgaa acgtc TAA CTT TCA GAT CTC CTT CTT GCT GAA CTA GAC

Ile Glu Ser Leu Glu Glu Glu Arg Leu Asp Leu

I E S L E E E R L D L

542 545 550
1665 1680 1695 1711

AAA AAA AAA ATT CGT CAA ATG GCT CAA GAA AGA GGA AAA AGA AGT GCA ACT TCA G gtata ctcag

TTT TTT TTT TAA GCA GTT TAC CGA GTT CTT TCT CCT TTT TCT TCA CGT TGA AGT C catat gagtc

Lys Lys Lys Ile Arg Gln Met Ala Gln Glu Arg Gly Lys Arg Ser Ala Thr Ser Gly

K K K I R Q M A Q E R G K R S A T S G

555 560 565 570 571


ttatt ctaaa ccttt aaaaa gaatt attga taagt gagtt gtctg gatat gaaat tattt gtgtc ttagc tgttt

aataa gattt ggaaa ttttt cttaa taact attca ctcaa cagac ctata cttta ataaa cacag aatcg acaaa


ttgct gttct attgt ggatc tgcta caaat ttaat aaatg acaat aataa cctga aggag ataag tgagt gtcag

aacga caaga taaca cctag acgat gttta aatta tttac tgtta ttatt ggact tcctc tattc actca cagtc


tgggt tcagt cctga atctg aaata gacaa aaaca aaaca aaaca aaata acaaa aacca agcaa acaaa aaaga

accca agtca ggact tagac tttat ctgtt tttgt tttgt tttgt tttat tgttt ttggt tcgtt tgttt tttct


IVS 17 (+ 877 bp)
gtaga gaaga tgaaa ttcaa aaatt aggtt ctcac attat taata gttca ttaaa agtga gctaa atgag aagct

catct cttct acttt aagtt tttaa tccaa gagtg taata attat caagt aattt tcact cgatt tactc ttcga


tgtat tggct atgta gaatt ttgga gggat tttgg aaaca attat tctac ctttg catta aaact tgatt gtagg

acata accga tacat cttaa aacct cccta aaacc tttgt taata agatg gaaac gtaat tttga actaa catcc


tttta agaat taaag tgttg gaata gtagg agggt tattt taatg ttttt agttt gttaa ttctc ttata tatag

aaaat tctta atttc acaac cttat catcc tccca ataaa attac aaaaa tcaaa caatt aagag aatat atatc


1712 1725 1740 1755 1770

GA TTA ACC ACT GAG GAC CTG AAC CTA ACT GAA AAC ATT TCT CAA GGA GAT AGA ATA AGT GAA AGA

CT AAT TGG TGA CTC CTG GAC TTG GAT TGA CTT TTG TAA AGA GTT CCT CTA TCT TAT TCA CTT TCT

Gly Leu Thr Thr Glu Asp Leu Asn Leu Thr Glu Asn Ile Ser Gln Gly Asp Arg Ile Ser Glu Arg

G L T T E D L N L T E N I S Q G D R I S E R

571 575 580 585 590


1785 1800 1815 1824

AAA TTG GAT TTA TTG AGC CTC AAA AAT ATG AGT GAA GCA CAA TCA AAG gtaat agtaa agtat tgcaa

TTT AAC CTA AAT AAC TCG GAG TTT TTA TAC TCA CTT CGT GTT AGT TTC catta tcatt tcata acgtt

Lys Leu Asp Leu Leu Ser Leu Lys Asn Met Ser Glu Ala Gln Ser Lys

K L D L L S L K N M S E A Q S K

595 600 605 608


agaga gtaaa ggaaa atatt ttttt ttttt ttttt ttttg agacg gagtc tcgct ctgtc tccca ggctg gagtg

tctct cattt ccttt tataa aaaaa aaaaa aaaaa aaaac tctgc ctcag agcga gacag agggt ccgac ctcac


cagtg gcgcg atctc ggctc actgc aagct ccgcc tcccg ggttc atgcc attct cctgc ctcag cctcc caagt

gtcac cgcgc tagag ccgag tgacg ttcga ggcgg agggc ccaag tacgg taaga ggacg gagtc ggagg gttca


agctg ggact acagg cgccc gccac cacgc ccggc taatt ttttg tattt ttagt agaga cgggg tttca ccgtt

tcgac cctga tgtcc gcggg cggtg gtgcg ggccg attaa aaaac ataaa aatca tctct gcccc aaagt ggcaa


IVS 18 (+ 1380 bp)
ctctt accat ggatg ttggg agagg gagaa agtgg gatta agatc accat ctgct ttact gttta gattt tagtt

gagaa tggta cctac aaccc tctcc ctctt tcacc ctaat tctag tggta gacga aatga caaat ctaaa atcaa


tattt ttatg attgc tgcta tgtct tcata gctcg ttttt tttgt tttgt tttgt tatac ttaat tgatc aaact

ataaa aatac taacg acgat acaga agtat cgagc aaaaa aaaca aaaca aaaca atatg aatta actag tttga


tttct taact tgaaa attat agact tgtga tattt tgttg aaaaa aatca atttt attct ctctg ctttt ttcag

aaaga attga acttt taata tctga acact ataaa acaac ttttt ttagt taaaa taaga gagac gaaaa aagtc


1825 1830 1845 1860 1875 1890

AAT GAA TTT CTT TCA AGA GAA CTA ATT GAA AAA GAA AGA GAT TTA GAA AGG AGT AGG ACA GTG ATA

TTA CTT AAA GAA AGT TCT CTT GAT TAA CTT TTT CTT TCT CTA AAT CTT TCC TCA TCC TGT CAC TAT

Asn Glu Phe Leu Ser Arg Glu Leu Ile Glu Lys Glu Arg Asp Leu Glu Arg Ser Arg Thr Val Ile

N E F L S R E L I E K E R D L E R S R T V I

609 610 615 620 625 630


1905 1909

GCC AAA TTT CAG AAT AAA T gtaag ttaca attat ctttt acttt tctgt tctta ttttt cctat actta

CGG TTT AAA GTC TTA TTT A cattc aatgt taata gaaaa tgaaa agaca agaat aaaaa ggata tgaat

Ala Lys Phe Gln Asn Lys Leu

A K F Q N K L

635 637
aaatc atggg cctaa aaggg cgtta acaca ttctc tgttt tctaa tctgc tttac tccta attac ctctg tactg

tttag taccc ggatt ttccc gcaat tgtgt aagag acaaa agatt agacg aaatg aggat taatg gagac atgac
tatat acttc agtct gtcac tatcc agttg atttg ccttg ctgtt ttcat tgtga gagaa tgtta ctaat atgaa

atata tgaag tcaga cagtg atagg tcaac taaac ggaac gacaa aagta acact ctctt acaat gatta tactt


ttttt tgtga gaata tataa ctcct ttttc ttgtg tgttc ttcaa tcaaa atgaa gttag aacac caaat ttaaa

aaaaa acact cttat atatt gagga aaaag aacac acaag aagtt agttt tactt caatc ttgtg gttta aattt


IVS 19
atact ttaat ataaa gcata gttta agtta aggca gaagt atgcc ttata tacgt gtgta tatgc acgtg atata

tatga aatta tattt cgtat caaat tcaat tccgt cttca tacgg aatat atgca cacat atacg tgcac tatat


aatag gtctg tcatt taact caact attca cgttg gattt atagt tgaat ttttt tgtat gttta tttac atttg

ttatc cagac agtaa attga gttga taagt gcaac ctaaa tatca actta aaaaa acata caaat aaatg taaac


gattt ttcca atgat gtctt tggta tatgt gaaat atttg tcatc tgtat agcat agtgt aaatt gtgaa aaaga

ctaaa aaggt tacta cagaa accat ataca cttta taaac agtag acata tcgta tcaca tttaa cactt tttct


1910 1920 1935

tctga tcatc caatg agaaa actgt gtaat tacag TA AAA GAA TTA GTT GAA GAA AAT AAG CAA CTT GAA

agact agtag gttac tcttt tgaca catta atgtc AT TTT CTT AAT CAA CTT CTT TTA TTC GTT GAA CTT

Leu Lys Glu Leu Val Glu Glu Asn Lys Gln Leu Glu

L K E L V E E N K Q L E

637 640 645


1950 1965 1980 1995 2010

GAA GGT ATG AAA GAA ATA TTG CAA GCA ATT AAG GAA ATG CAG AAA GAT CCT GAT GTT AAA GGA GGA

Glu Gly Met Lys Glu Ile Leu Gln Ala Ile Lys Glu Met Gln Lys Asp Pro Asp Val Lys Gly Gly

CTT CCA TAC TTT CTT TAT AAC GTT CGT TAA TTC CTT TAC GTC TTT CTA GGA CTA CAA TTT CCT CCT

E G M K E I L Q A I K E M Q K D P D V K G G

650 655 660 665 670


2025 2040 2052

GAA ACA TCT CTA ATT ATC CCT AGC CTT GAA AGA CTA GTT AAT gtaag ttatt ttttt catgt taatg

CTT TGT AGA GAT TAA TAG GGA TCG GAA CTT TCT GAT CAA TTA cattc aataa aaaaa gtaca attac

Glu Thr Ser Leu Ile Ile Pro Ser Leu Glu Arg Leu Val Asn

E T S L I I P S L E R L V N

675 680 684


ttttt cccct atcac tttag agaga ttttc tgctg tgtac agatc tccat agttt ctgat gagat atttt tagtc

aaaaa gggga tagtg aaatc tctct aaaag acgac acatg tctag aggta tcaaa gacta ctcta taaaa atcag


atttg aatca ttgtt tccct gtatg taaag tgtag ttttt cttga gctgc tttca atact tttct tctac caatt

taaac ttagt aacaa aggga catac atttc acatc aaaaa gaact cgacg aaagt tatga aaaga agatg gttaa


ggata attgt tatta atctg tcttc aagtt cactg acatt ttcct cttta tctgt gttct tttgg ttcaa gggtc

cctat taaca ataat tagac agaag ttcaa gtgac tgtaa aagga gaaat agaca caaga aaacc aagtt cccag


IVS 20 (+ 2086 bp)
aggtg ttttt taatt gtttt aatga agtaa ttact atgct tggta atgta aatga aagtt ttata gattc ataaa

tccac aaaaa attaa caaaa ttact tcatt aatga tacga accat tacat ttact ttcaa aatat ctaag tattt


taaga atttg aattg gcata cttta ttatc atgct tggca atgaa aatag gaaaa tgctt aaatg tccat tttat

attct taaac ttaac cgtat gaaat aatag tacga accgt tactt ttatc ctttt acgaa tttac aggta aaata


ttaaa gacag actgt ttttt actat gattt tactg ttttt ctcca cattt ctaat atata atata aattt gctag

aattt ctgtc tgaca aaaaa tgata ctaaa atgac aaaaa gaggt gtaaa gatta tatat tatat ttaaa cgatc


C=Ala (1) |

2053 | 2070 2085 2100 2115 |

GCT ATA GAA TCA AAG AAT GCA GAA GGA ATC TTT GAT GCG AGT CTG CAT TTG AAA GCC CAA GTT GAT

CGA TAT CTT AGT TTC TTA CGT CTT CCT TAG AAA CTA CGC TCA GAC GTA AAC TTT CGG GTT CAA CTA

Ala Ile Glu Ser Lys Asn Ala Glu Gly Ile Phe Asp Ala Ser Leu His Leu Lys Ala Gln Val Asp

A I E S K N A E G I F D A S L H L K A Q V D

685 690 695 700 705
-dup| (1)

| 2130 2145 2160 2175

CAG CTT ACC GGA AGA AAT GAA GAA TTA AGA CAG GAG CTC AGG GAA TCT CGG AAA GAG GCT ATA AAT

GTC GAA TGG CCT TCT TTA CTT CTT AAT TCT GTC CTC GAG TCC CTT AGA GCC TTT CTC CGA TAT TTA

Gln Leu Thr Gly Arg Asn Glu Glu Leu Arg Gln Glu Leu Arg Glu Ser Arg Lys Glu Ala Ile Asn

Q L T G R N E E L R Q E L R E S R K E A I N

710 715 720 725
2190 2205 2217

TAT TCA CAG CAG TTG GCA AAA GCT AAT TTA AAG gtgag aattt tatta aataa aagaa aatgc taaac

ATA AGT GTC GTC AAC CGT TTT CGA TTA AAT TTC cactc ttaaa ataat ttatt ttctt ttacg atttg

Tyr Ser Gln Gln Leu Ala Lys Ala Asn Leu Lys

Y S Q Q L A K A N L K

730 735 739


ataag aatgt agatt taata ggaaa ttttt aattt tttaa aaaga atgct ttatg agaaa atgcc ccttg aatta

tattc ttaca tctaa attat ccttt aaaaa ttaaa aaatt tttct tacga aatac tcttt tacgg ggaac ttaat


attct ttcaa tatta agaaa ctgga tttct cttat aaaat tataa gtgga aaata agtgc cttat aagat tgaaa

taaga aagtt ataat tcttt gacct aaaga gaata tttta atatt cacct tttat tcacg gaata ttcta acttt


IVS 21
ag aatac aaaaa ttcta aatct catac ctagg cattt ctaag cagaa actga agtat ggttg aggta aaatt

tc ttatg ttttt aagat ttaga gtatg gatcc gtaaa gattc gtctt tgact tcata ccaac tccat tttaa


cctgg caggg cattc acata tctgt caatt tgtct ttctt tgggt gtaag agttg tgatt ctcat tgctg gattt

ggacc gtccc gtaag tgtat agaca gttaa acaga aagaa accca cattc tcaac actaa gagta acgac ctaaa


|--del----| (2) G=ter (1)

| 2218 | 2235 | 2265 |

ttttt tccag ATA GAC CAT CTT GAA AAA GAA ACT AGT CTT TTA CGA CAA TCA GAA GGA TCR AAT GTT

aaaaa aggtc TAT CTG GTA GAA CTT TTT CTT TGA TCA GAA AAT GCT GTT AGT CTT CCT AGR TTA CAA

Ile Asp His Leu Glu Lys Glu Thr Ser Leu Leu Arg Gln Ser Glu Gly Ser Asn Val

I D H L E K E T S L L R Q S E G S N V

740 745 750 755
2280 2295 2310 2325 2340

GTT TTT AAA GGA ATT GAC TTA CCT GAT GGG ATA GCA CCA TCT AGT GCC AGT ATC ATT AAT TCT CAG

CAA AAA TTT CCT TAA CTG AAT GGA CTA CCC TAT CGT GGT AGA TCA CGG TCA TAG TAA TTA AGA GTC

Val Phe Lys Gly Ile Asp Leu Pro Asp Gly Ile Ala Pro Ser Ser Ala Ser Ile Ile Asn Ser Gln

V F K G I D L P D G I A P S S A S I I N S Q

760 765 770 775 780

2355 2367

AAT GAA TAT TTA ATA CAT TTG TTA CAG gtatt gaaaa ttttg ttaca ggtat tgaaa atttt acatg tgaat

TTA CTT ATA AAT TAT GTA AAC AAT GTC cataa ctttt aaaac aatgt ccata acttt taaaa tgtac actta

Asn Glu Tyr Leu Ile His Leu Leu Gln

N E Y L I H L L Q

785 789
aacaa aaatc attgg tagta tgttt cttta tgttt ttatt tttat tttac tttat tttaa ttttt ccatc accaa

ttgtt tttag taacc atcat acaaa gaaat acaaa aataa aaata aaatg aaata aaatt aaaaa ggtag tggtt
agcat gcaga tagta ctttt ctcaa tattt agtct tcatg tattc ctgag ttctc aaaat agtaa cagtg aaata

tcgta cgtct atcat gaaaa gagtt ataaa tcaga agtac ataag gactc aagag tttta tcatt gtcac tttat


tattt tttat ggatt ttgat gttag atgga ttata aataa aagca attta tacca ttcat tccat tcatc tgcat

ataaa aaata cctaa aacta caatc tacct aatat ttatt ttcgt taaat atggt aagta aggta agtag acgta


IVS 22 (+ 1525 bp)
ggtaa tttgt gtgct aaaaa taact ttacc tgttg tatag tactc ttttt ttatg cctta aacta aagtg ttcaa

ccatt aaaca cacga ttttt attga aatgg acaac atatc atgag aaaaa aatac ggaat ttgat ttcac aagtt


aatat catgg aaaaa tgatc tgtgt tgctt acaga tttgg tgact tttaa ctttc ctata atgtt gtcag aatat

ttata gtacc ttttt actag acaca acgaa tgtct aaacc actga aaatt gaaag gatat tacaa cagtc ttata


gaatt tatac tttca aattc agcat ttatt ctatt gtgtt ttttt ttgca ttctt atttc taaac cactt ttcag

cttaa atatg aaagt ttaag tcgta aataa gataa cacaa aaaaa aacgt aagaa taaag atttg gtgaa aagtc


2368 2385 2400 2415 2430

GAA CTA GAA AAT AAA GAA AAA AAG TTA AAG AAT TTA GAA GAT TCT CTT GAA GAT TAC AAC AGA AAA

CTT GAT CTT TTA TTT CTT TTT TTC AAT TTC TTA AAT CTT CTA AGA GAA CTT CTA ATG TTG TCT TTT

Glu Leu Glu Asn Lys Glu Lys Lys Leu Lys Asn Leu Glu Asp Ser Leu Glu Asp Tyr Asn Arg Lys

E L E N K E K K L K N L E D S L E D Y N R K

790 795 800 805 810


2445 2460 2475 2783

TTT GCT GTA ATT CGT CAT CAA CAA AGT TTG TTG TAT AAA GAA TAC CTA AG gtata ggtat tagca

AAA CGA CAT TAA GCA GTA GTT GTT TCA AAC AAC ATA TTT CTT ATG GAT TC catat ccata atcgt

Phe Ala Val Ile Arg His Gln Gln Ser Leu Leu Tyr Lys Glu Tyr Leu Ser

F A V I R H Q Q S L L Y K E Y L S

815 820 825 828


aaact ataaa tataa ttgca gtata ttctt gttaa ttgtg aaagt aacgt aagaa taatt tatgt tttgt tcttc

tttga tattt atatt aacgt catat aagaa caatt aacac tttca ttgca ttctt attaa ataca aaaca agaag


ccttc ttctt cttcc tttgc aattg tattt ttttt tactc tggta actac tgtta ggaac ttatt tatgg agaca

ggaag aagaa gaagg aaacg ttaac ataaa aaaaa atgag accat tgatg acaat ccttg aataa atacc tctgt


gtgta gctta atgat tacat taagc ctggg attat cctgc ctggg tttga gtcat ttaac gtttg ctttt tgtaa

cacat cgaat tacta atgta attcg gaccc taata ggacg gaccc aaact cagta aattg caaac gaaaa acatt


IVS 23 (+ 1502 bp)
aaata atttg ataac tttgt tgcct tgcat ttatt taaaa aattt ttaat tctag gctaa accct tttta aatga

tttat taaac tattg aaaca acgga acgta aataa atttt ttaaa aatta agatc cgatt tggga aaaat ttact


aagtt taact tcttg tgttt tcaga tactg aatag ctatg atacc tcttg tgttg agaaa acttt aaatt tgcat

ttcaa attga agaac acaaa agtct atgac ttatc gatac tatgg agaac acaac tcttt tgaaa tttaa acgta


aatct gaagt tatct tttct tataa acatt ttatt aggtt tacag tattg tcttt ttgtt ttgtt ttgtt tttag

ttaga cttca ataga aaaga atatt tgtaa aataa tccaa atgtc ataac agaaa aacaa aacaa aacaa aaatc


2584 2490 2505 2520 2535 2550

T GAA AAG GAG ACC TGG AAA ACA GAA TCT AAA ACA ATA AAA GAG GAA AAG AGA AAA CTT GAG GAT CAA

A CTT TTC CTC TGG ACC TTT TGT CTT AGA TTT TGT TAT TTT CTC CTT TTC TCT TTT GAA CTC CTA GTT

Ser Glu Lys Glu Thr Trp Lys Thr Glu Ser Lys Thr Ile Lys Glu Glu Lys Arg Lys Leu Glu Asp Gln

S E K E T W K T E S K T I K E E K R K L E D Q

828 830 835 840 845 850


2565 2580 2586

GTC CAA CAA GAT GCT ATA AAA GTA AAA GAA TAT AAT gtaag taaaa cattt ttaac attag tatgc aatat

CAG GTT GTT CTA CGA TAT TTT CAT TTT CTT ATA TTA cattc atttt gtaaa aattg taatc atacg ttata

Val Gln Gln Asp Ala Ile Lys Val Lys Glu Tyr Asn

V Q Q D A I K V K E Y N

855 860 862


IVS 24

2587 2595

tgtac aaagt aggat agcta gattc aacaa gtaat atgga tgtgt ctttg tgcag AAT TTG CTC AAT GCT CTT

acatg tttca tccta tcgat ctaag ttgtt catta tacct acaca gaaac acgtc TTA AAC GAG TTA CGA GAA

Asn Leu Leu Asn Ala Leu

N L L N A L

863 865
2610 2625 2640 2655 2670

CAG ATG GAT TCG GAT GAA ATG AAA AAA ATA CTT GCA GAA AAT AGT AGG AAA ATT ACT GTT TTG CAA

GTC TAC CTA AGC CTA CTT TAC TTT TTT TAT GAA CGT CTT TTA TCA TCC TTT TAA TGA CAA AAC GTT

Gln Met Asp Ser Asp Glu Met Lys Lys Ile Leu Ala Glu Asn Ser Arg Lys Ile Thr Val Leu Gln

Q M D S D E M K K I L A E N S R K I T V L Q

870 875 880 885 890


2685 2700 2715 2730

GTG AAT GAA AAA TCA CTT ATA AGG CAA TAT ACA ACC TTA GTA GAA TTG GAG CGA CAA CTT AGA AAA

CAC TTA CTT TTT AGT GAA TAT TCC GTT ATA TGT TGG AAT CAT CTT AAC CTC GCT GTT GAA TCT TTT

Val Asn Glu Lys Ser Leu Ile Arg Gln Tyr Thr Thr Leu Val Glu Leu Glu Arg Gln Leu Arg Lys

V N E K S L I R Q Y T T L V E L E R Q L R K

895 900 905 910


2745 2760 2775 2790

GAA AAT GAG AAG CAA AAG AAT GAA TTG TTG TCA ATG GAG GCT GAA GTT TGT GAA AAA ATT GGG TGT

CTT TTA CTC TTC GTT TTC TTA CTT AAC AAC AGT TAC CTC CGA CTT CAA ACA CTT TTT TAA CCC ACA

Glu Asn Glu Lys Gln Lys Asn Glu Leu Leu Ser Met Glu Ala Glu Val Cys Glu Lys Ile Gly Cys

E N E K Q K N E L L S M E A E V C E K I G C

915 920 925 930


2805 2817

TTG CAA AGA TTT AAG gtaca tctga ttctt atttt gcttt ttctg actat gaaaa atttc aaata tgcag

AAC GTT TCT AAA TTC catgt agact aagaa taaaa cgaaa aagac tgata ctttt taaag tttat acgtc

Leu Gln Arg Phe Lys

L Q R F K

935 939
aagat aggat ggtat caata atgct catca cctga attaa tagtt aacat ttatt aacat tttgt cataa ttgct

ttcta tccta ccata gttat tacga gtagt ggact taatt atcaa ttgta aataa ttgta aaaca gtatt aacga
tcttc tgatt tttgt gggat gtttg aattg cagac attcc tcccc taaat attta atgta ccctt ttgaa aaagg

agaag actaa aaaca cccta caaac ttaac gtctg taagg agggg attta taaat tacat gggaa aactt tttcc


ctttt ttctt taact aacca tagta acttt attat accta acaaa atgac agtaa ttttc taata tcgcc taata

gaaaa aagaa attga ttggt atcat tgaaa taata tggat tgttt tactg tcatt aaaag attat agcgg attat


IVS 25 (+ 3158 bp)

ttatt aaagt atttt atttt tatta tgatt aagat tttca aagta acatt tctta tatga aagaa attat gttaa

aataa tttca taaaa taaaa ataat actaa ttcta aaagt ttcat tgtaa agaat atact ttctt taata caatt
tgcat gtttt tctta catgg gaaat catat atttt aaaaa tgatt ttaaa attcg tttta cttta agttg tatta

acgta caaaa agaat gtacc cttta gtata taaaa ttttt actaa aattt taagc aaaat gaaat tcaac ataat


tcttt ctcaa aagtg gctag tgctt gacca gaaaa aaaga cacca gcata actca gtgta tcttt attta catag

agaaa gagtt ttcac cgatc acgaa ctggt ctttt tttct gtggt cgtat tgagt cacat agaaa taaat gtatc


2818 2835 2850 2865 2880

GAA ATG GCC ATT TTC AAG ATT GCA GCT CTC CAA AAA GTT GTA GAT AAT AGT GTT TCT TTG TCT GAA

CTT TAC CGG TAA AAG TTC TAA CGT CGA GAG GTT TTT CAA CAT CTA TTA TCA CAA AGA AAC AGA CTT

Glu Met Ala Ile Phe Lys Ile Ala Ala Leu Gln Lys Val Val Asp Asn Ser Val Ser Leu Ser Glu

E M A I F K I A A L Q K V V D N S V S L S E

940 945 950 955 960


2895 2910 2925 2940

CTA GAA CTG GCT AAT AAA CAG TAC AAT GAA CTG ACT GCT AAG TAC AGG GAC ATC TTG CAA AAA GAT

GAT CTT GAC CGA TTA TTT GTC ATG TTA CTT GAC TGA CGA TTC ATG TCC CTG TAG AAC GTT TTT CTA

Leu Glu Leu Ala Asn Lys Gln Tyr Asn Glu Leu Thr Ala Lys Tyr Arg Asp Ile Leu Gln Lys Asp

L E L A N K Q Y N E L T A K Y R D I L Q K D

965 970 975 980


2955 2970 2985 2991

AAT ATG CTT GTT CAA AGA ACA AGT AAC TTG GAA CAC CTG GAG gtaag tttgt gtgat tcttg aacct

TTA TAC GAA CAA GTT TCT TGT TCA TTG AAC CTT GTG GAC CTC cattc aaaca cacta agaac ttgga

Asn Met Leu Val Gln Arg Thr Ser Asn Leu Glu His Leu Glu

N M L V Q R T S N L E H L E

985 990 995 997


tgtga aatta gccat ttttc ttcaa tattt ttgtg tttgg gggga tttgg cagat tttaa ttaaa gtttg cctgc

acact ttaat cggta aaaag aagtt ataaa aacac aaacc cccct aaacc gtcta aaatt aattt caaac ggacg


attta tataa attta acaga gatat aatta tccat attat tcatt cagtt tagtt ataaa tattt tgttc ccaca

taaat atatt taaat tgtct ctata ttaat aggta taata agtaa gtcaa atcaa tattt ataaa acaag ggtgt


taaca cacac acaca cacac aatat attat ctatt tatag tggct gaatg acttc tgaat gatta tctag atcat

attgt gtgtg tgtgt gtgtg ttata taata gataa atatc accga cttac tgaag actta ctaat agatc tagta


IVS 26 (+ 1314 bp)
tcctg aactc gtgat ccacc cgcct cggcc tccta aagtg ctggg attac agatg tgagc caccg cacct ggccc

aggac ttgag cacta ggtgg gcgga gccgg aggat ttcac gaccc taatg tctac actcg gtggc gtgga ccggg


+1655

g (1)


|

cagtt gtaat tgtga atatc tcata cctat cccta ttggc agtgt cttag tttta ttttt tatta tcttt attgt

gtcaa catta acact



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