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
tttttgttttttccttcttacagaaggcactaccctggacgccgcttgcaaacgcctgaagagaaggcagggtgt
aaaaa caaaa aagga agaat gtctt ccgtg atggg acctg cggcg aacgt ttgcg gactt ctctt ccgtc ccaca
-730 -720 -710 -700 -690 -680 -670 -660
tcccactttttcagaatgggaccaggccctacggccccaatagcagaagcttctctaacccaggactgctcccct
agggt gaaaa agtct taccc tggtc cggga tgccg gggtt atcgt cttcg aagag attgg gtcct gacga gggga
-650 -640 -630 -620 -610 -600 -590
caattcctcccaatatgctgaccgacagctcgacctcacctgggggcggttccgccaggggatggcttaggaaaa
gttaa ggagg gttat acgac tggct gtcga gctgg agtgg acccc cgcca aggcg gtccc ctacc gaatc ctttt
-580 -570 -560 -550 -540 -530 -520 -510
cctcaggaagagcagcccagcgagtgacgccactgaaaccacagtcatggtctacctcgttcaggccaccagttt
ggagt ccttc tcgtc gggtc gctca ctgcg gtgac tttgg tgtca gtacc agatg gagca agtcc ggtgg tcaaa
-500 -490 -480 -470 -460 -450 -440
gcaggcgcctgagccgctgctcctcccgcctctcggtccttccccgccgccccggtaccgtcgcagtcttacgcg
cgtcc gcgga ctcgg cgacg aggag ggcgg agagc cagga agggg cggcg gggcc atggc agcgt cagaa tgcgc
-430 -420 -410 -400 -390 -380 -370 -360
ttgcatgccgggagcgccttacctcctcttctcagggacttcagttcccagcatgcagaagcctcaggcagaact
aacgt acggc cctcg cggaa tggag gagaa gagtc cctga agtca agggt cgtac gtctt cggag tccgt cttga
-350 -340 -330 -320 -310 -300 -290
gcactctgggATTTGAAGTCCTCGTTCCACGCCTTCTCATCATCCTGAACACCGAGCTCTGGGACTCCGGCGGAG
cgtga gaccc TAAAC TTCAG GAGCA AGGTG CGGAA GAGTA GTAGG ACTTG TGGCT CGAGA CCCTG AGGCC GCCTC
-280 -270 -260 -250 -240 -230 -220 -210
AATCTAAACGTAAAGCATCACCCACGGTCGTGAACTGTAGGCTCTCCTGGCATCCGGGATCTTATTCTGGCCTTG
TTAGA TTTGC ATTTC GTAGT GGGTG CCAGC ACTTG ACATC CGAGA GGACC GTAGG CCCTA GAATA AGACC GGAAC
-200 -190 -180 -170 -160 -150 -140
GCGGAGTTGGGGATGGTGTCGCCTAGCAGCCGCTGCCGCTTTGGCTTGCTCGGGACCATTTGGCTGGACCCAGAG
CGCCT CAACC CCTAC CACAG CGGAT CGTCG GCGAC GGCGA AACCG AACGA GCCCT GGTAA ACCGA CCTGG GTCTC
-130 -120 -110 -100 -90 -80 -70 -60
TCCGCGTGGAACCGCGATAGGGATCTGTCAGGGCCCGCGGCCGGGTCCAGCTTGGTGGTTGCGGTAGTGAGAGGC
AGGCG CACCT TGGCG CTATC CCTAG ACAGT CCCGG GCGCC GGCCC AGGTC GAACC ACCAA CGCCA TCACT CTCCG
-50 -40 -30
CTCCGCTGGTTGCCAGGCTTGGTCTAGtttttgttttttccttcttacagaaggcactaccctggacgccgcttg
GAGGC GACCA ACGGT CCGAA CCAGA TCaaa aacaa aaaag gaaga atgtc ttccg tgatg ggacc tgcgg cgaac
caaacgcctgaagagaaggcagggtgttcccactttttcagaatgggaccaggccctacggccccaatagcagaa
gtttg cggac ttctc ttccg tccca caagg gtgaa aaagt cttac cctgg tccgg gatgc cgggg ttatc gtctt
gcttctctaacccaggactgctcccctcaattcctcccaatatgctgaccgacagctcgacctcacctgggggcg
cgaag agatt gggtc ctgac gaggg gagtt aagga gggtt atacg actgg ctgtc gagct ggagt ggacc cccgc
IVS1 (+ 796 bp)
gatgattgtcggccttccacagaccctcgcgcttgccaggattagggtgttcgcgcgcattgtgggtaggggtgt
ctact aacag ccgga aggtg tctgg gagcg cgaac ggtcc taatc ccaca agcgc gcgta acacc catcc ccaca
ggaggaagggatccagaaatcttaagtattaacttagattagtgttagcaaggaagccgtcacattttatttagc
cctcc ttccc taggt cttta gaatt cataa ttgaa tctaa tcaca atcgt tcctt cggca gtgta aaata aatcg
cgggacactctgacagtttgtgccgactgctatttttgatcaaggctattttgcccacttgtctattttgtggcc
gccct gtgag actgt caaac acggc tgacg ataaa aacta gttcc gataa aacgg gtgaa cagat aaaac accgg
caattgtctgttttgctaacatcagaaagttataatgaaataatctgcaaaaaatgtaaggtgctagaaaaccaa
gttaa cagac aaaac gattg tagtc tttca atatt acttt attag acgtt tttta cattc cacga tcttt tggtt
-27 -20 -10
taatactgtgtaccttgaaaatgctaatatacacctgttttgttacagAGGTGGAGCACAGTGAAAGAATTCAAG
attat gacac atgga acttt tacga ttata tgtgg acaaa acaat gtcTC CACCT CGTGT CACTT TCTTA AGTTC
T=Cys (3)
1 15 | 30 45 60
ATGCCACCTAATATAAACTGGAAAGAAATAATGAAAGTTGACCCAGATGACCTGCCCCGTCAAGAA
TAC GGT GGA TTA TAT TTG ACC TTT CTT TAT TAC TTT CAA CTG GGT CTA CTG GAC GGG GCA GTT CTT
MetProProAsnIleAsnTrpLysGluIleMetLysValAspProAspAspLeuProArgGlnGlu
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
GAACTGGCAGATAATTTATTGATTTCCTTATCCAAGgtgcttaattggtcaataataatagatatatacat
CTT GAC CGT CTA TTA AAT AAC TAA AGG AAT AGG TTC cacga attaa ccagt tatta ttatc tatat atgta
GluLeuAlaAspAsnLeuLeuIleSerLeuSerLys
E L A D N L L I S L S K
25 30 34
taacttatgattaatttattaataaaatatgaatttatttttttcagggacaactataattgtcacaatctggaa
attga atact aatta aataa ttatt ttata cttaa ataaa aaaag tccct gttga tatta acagt gttag acctt
IVS 2
103
gtgttcttatattttgcttgaaggttataaaatataaaacagttgcttttctgtttacttagGTGGAAGTA
ca caaga atata aaacg aactt ccaat atttt atatt ttgtc aacga aaaga caaat gaatc CAC CTT CAT
ValGluVal
V E V
35
120 135 150 165
AATGAGCTAAAAAGTGAAAAGCAAGAAAATGTGATACACCTTTTCAGAATTACTCAGTCACTAATG
TTA CTC GAT TTT TCA CTT TTC GTT CTT TTA CAC TAT GTG GAA AAG TCT TAA TGA GTC AGT GAT TAC
AsnGluLeuLysSerGluLysGlnGluAsnValIleHisLeuPheArgIleThrGlnSerLeuMet
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|
AAGgtttgtatgtagtaggttttaactataggtttggctattagtggaactataaaaatctgttcttatataa
TTC caaac ataca tcatc caaaa ttgat atcca aaccg ataat cacct tgata ttttt agaca agaat atatt
Lys
K
60
ggtaatctttgtgaaaatacctggtaatatctacatcaccactaaaaaatgcaatatatttaaatgtgaattaag
ccatt agaaa cactt ttatg gacca ttata gatgt agtgg tgatt tttta cgtta tataa attta cactt aattc
tattttagtgtataaaacattgctagtttctacttaaagtttctaaaagggtgtgtaggggaaatagaatgagta
ataaa atcac atatt ttgta acgat caaag atgaa tttca aagat tttcc cacac atccc cttta tctta ctcat
IVS 3 (+ 946 bp)
tgccactgcactccagcctgggtgacaaagtgaggccctatctcaaaagcaaaaaaaacaaaaacaaaaaccaaa
acggt gacgt gaggt cggac ccact gtttc actcc gggat agagt tttcg ttttt tttgt ttttg ttttt ggttt
aactatttattcagcaaatatttactgaacgtctccatgtgccagccattgctggcactaaggatcataacaaat
ttgat aaata agtcg tttat aaatg acttg cagag gtaca cggtc ggtaa cgacc gtgat tccta gtatt gttta
aaaacagaatttttattttcagtgcttacattccagtataaaggcatattgaaataacctttttttaatgtttag
ttttg tctta aaaat aaaag tcacg aatgt aaggt catat ttccg tataa cttta ttgga aaaaa attac aaatc
181 195 210 225 240
ATGAAAGCTCAAGAAGTGGAGCTGGCTTTGGAAGAAGTAGAAAAAGCTGGAGAAGAACAAGCAAAA
TAC TTT CGA GTT CTT CAC CTC GAC CGA AAC CTT CTT CAT CTT TTT CGA CCT CTT CTT GTT CGT TTT
MetLysAlaGlnGluValGluLeuAlaLeuGluGluValGluLysAlaGlyGluGluGlnAlaLys
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
TTTGgtaagcaccttggaaaaagtttattatggtattaaataatgaattccatttgttcattaaactgtagaaa
AAA C cattc gtgga acctt tttca aataa tacca taatt tatta cttaa ggtaa acaag taatt tgaca tcttt
PheGlu
F E
84
attaaattatattctataaaatatatatattcagtttatttttaatatataacatttaataataaatatttctag
taatt taata taaga tattt tatat atata agtca aataa aaatt atata ttgta aatta ttatt tataa agatc
actcctattttatggatctgccatataatactttttgttaccttataatcatgatggactcttttaaaagaatta
tgagg ataaa atacc tagac ggtat attat gaaaa acaat ggaat attag tacta cctga gaaaa ttttc ttaat
IVS 4
attttgttattgaaatttatttaaaagtttgttttgtggtaactaatcaattaaaacgtttttcttttttttt
taa aacaa taact ttaaa taaat tttca aacaa aacac cattg attag ttaat tttgc aaaaa gaaaa aaaaa
insA (1)
251 255 | 270 285 297
aaaaaaatagAAAATCAATTAAAAACTAAAGTAATGAAACTGGAAAATGAACTGGAGgtatg tcttt
ttttt ttatc TT TTA GTT AAT TTT TGA TTT CAT TAC TTT GAC CTT TTA CTT GAC CTC catac agaaa
GluAsnGlnLeuLysThrLysValMetLysLeuGluAsnGluLeuGlu
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
ATGGCTCAGCAGTCTGCAGGTGGACGAGATACTCGGTTTTTACGTAATGAAATTTGCCAACTTGAA
TAC CGA GTC GTC AGA CGT CCA CCT GCT CTA TGA GCC AAA AAT GCA TTA CTT TAA ACG GTT GAA CTT
MetAlaGlnGlnSerAlaGlyGlyArgAspThrArgPheLeuArgAsnGluIleCysGlnLeuGlu
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
AAACAATTAGAACAAAAAGATAGAGAATTGGAGGACATGGAAAAGGAGTTGGAGAAAGAGAAGAAA
TTT GTT AAT CTT GTT TTT CTA TCT CTT AAC CTC CTG TAC CTT TTC CTC AAC CTC TTT CTC TTC TTT
LysGlnLeuGluGlnLysAspArgGluLeuGluAspMetGluLysGluLeuGluLysGluLysLys
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
GTTAATGAGCAA gtaaagcactttttttttccatgaatcttcactgttcaagttacctggctttttattatt
CAA TTA CTC GTT cattt cgtga aaaaa aaagg tactt agaag tgaca agttc aatgg accga aaaat aataa
ValAsnGluGln
V N E Q
145 147
attggtaacaatatcaatttttatattgtatgttatatttgaaaaatgatgtacacttatctctaaggttttata
taacc attgt tatag ttaaa aatat aacat acaat ataaa ctttt tacta catgt gaata gagat tccaa aatat
tcactgttcattttgtcatcaccaattttaaaatataatggtacttctagtgaatatgacttgaagattaattct
agtga caagt aaaac agtag tggtt aaaat tttat attac catga agatc actta tactg aactt ctaat taaga
ttatatttggaagtacatttttctcaggacatcaaacttgttacctaaaattaatgcttttgtctggaagattgg
aatat aaacc ttcat gtaaa aagag tcctg tagtt tgaac aatgg atttt aatta cgaaa acaga ccttc taacc
IVS 6 (+4914 bp)
taaaaatacaaaaattagccagttatggtaatgcatgccagtaattccagctactcggtaggctgaggtgggaga
atttt tatgt tttta atcgg tcaat accat tacgt acggt catta aggtc gatga gccat ccgac tccac cctct
attgcttgaaccgggaggcagaggttgcagtgagccgagatcgcaccactgtactccagcctaggcgacaaagac
taacg aactt ggccc tccgt ctcca acgtc actcg gctct agcgt ggtga catga ggtcg gatcc gctgt ttctg
tttgtctcaaaaaaaaaaaaaattactgctgaattttatcttcttcttatttattttttttttttactattttag
aaaca gagtt ttttt ttttt ttaat gacga cttaa aatag aagaa gaata aataa aaaaa aaaaa tgata aaatc
442 450 465 480 495
TTGGCTCTTCGAAATGAGGAGGCAGAAAATGAAAACAGCAAATTAAGAAGAGAGgtaaaaaattttagt
AAC CGA GAA GCT TTA CTC CTC CGT CTT TTA CTT TTG TCG TTT AAT TCT TCT CTC cattt tttaa aatca
LeuAlaLeuArgAsnGluGluAlaGluAsnGluAsnSerLysLeuArgArgGlu
L A L R N E E A E N E N S K L R R E
148 150 155 160 165
agttgtggtggttcaacaaaggtacttattaaaataagtacctaagtttacataaatttatattttaaccaggac
tcaac accac caagt tgttt ccatg aataa tttta ttcat ggatt caaat gtatt taaat ataaa attgg tcctg
tggagtcttctaagtaactgatgttttcagactgattttatggtatgactttgtctcagggaaatagaaaacaaa
acctc agaag attca ttgac tacaa aagtc tgact aaaat accat actga aacag agtcc cttta tcttt tgttt
gcaaaatgtgaggccattaagtattacattcatctcaggtctatgcgggtaaatctttttttgttgttttataag
cgttt tacac tccgg taatt cataa tgtaa gtaga gtcca gatac gccca tttag aaaaa aacaa caaaa tattc
IVS 7
ataagccattctttgctagttttctaattgaatagatgactggatttctattcttatttctcttacccagaatc
tatt cggta agaaa cgatc aaaag attaa cttat ctact gacct aaaga taaga ataaa gagaa tgggt cttag
ctttaaaattttttgttacttgtggaatcttataaattctgattatcatttggttctactgagccaaataatgtt
gaaat tttaa aaaac aatga acacc ttaga atatt taaga ctaat agtaa accaa gatga ctcgg tttat tacaa
tgtacattgtttattctgatagaagttcttaagtttctaacataattgaaatattatttgttttggtagataatt
acatg taaca aataa gacta tcttc aagaa ttcaa agatt gtatt aactt tataa taaac aaaac catct attaa
agtattctttctttggttattcaagataatatgcatcattttcccaaaatttttttgttttctttagtttctgat
tcata agaaa gaaac caata agttc tatta tacgt agtaa aaggg tttta aaaaa acaaa agaaa tcaaa gacta
496
tattatttttaattatgtattacctttctcatttctaattaccgttttcctgtccttttctgtagAACAAACGT
ataat aaaaa ttaat acata atgga aagag taaag attaa tggca aaagg acagg aaaag acatc TTG TTT GCA
AsnLysArg
N K R
166
510 516
CTAAAGAAAAAGgtgaggctttaagtgtggtgaaatcttgggaatttaaaatatgttgtgagagcactattt
GAT TTC TTT TTC cactc cgaaa ttcac accac tttag aaccc ttaaa tttta tacaa cactc tcgtg ataaa
LeuLysLysLys
L K K K
170 172
IVS 8
517 525
agaggatatgattttgttattctgaatagttttgtaattgaatgttgtgtttggttaccttcagAATGAACAA
tctc ctata ctaaa acaat aagac ttatc aaaac attaa cttac aacac aaacc aatgg aagtc TTA CTT GTT
AsnGluGln
N E Q
173 175
540 555 570 585
CTTTGTCAGGATATTATTGACTACCAGAAACAAATAGATTCACAGAAAGAAACACTTTTATCAAGA
GAA ACA GTC CTA TAA TAA CTG ATG GTC TTT GTT TAT CTA AGT GTC TTT CTT TGT GAA AAT AGT TCT
LeuCysGlnAspIleIleAspTyrGlnLysGlnIleAspSerGlnLysGluThrLeuLeuSerArg
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
AGAGGGGAAGACAGTGACTACCGATCACAGTTGTCTAAAAAAAACTATGAGCTTATCCAATATCTT
TCT CCC CTT CTG TCA CTG ATG GCT AGT GTC AAC AGA TTT TTT TTG ATA CTC GAA TAG GTT ATA GAA
ArgGlyGluAspSerAspTyrArgSerGlnLeuSerLysLysAsnTyrGluLeuIleGlnTyrLeu
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
GATGAAATTCAGgtaaaatggctagaagtcaattcagagcaatggttcctaaaaactttaatttcattacaa
CTA CTT TAA GTC cattt taccg atctt cagtt aagtc tcgtt accaa ggatt tttga aatta aagta atgtt
AspGluIleGln
D E I Q
220 223
tgtaaatataatatttagccctacatgtaaattccctggtataaatctgtcactatgtacttgtaaaatgtgaaa
acatt tatat tataa atcgg gatgt acatt taagg gacca tattt agaca gtgat acatg aacat tttac acttt
taaattacatctttgaagttgcaactttttagccatttttatatttgcctgtcttggtcattaagaacaattgag
attta atgta gaaac ttcaa cgttg aaaaa tcggt aaaaa tataa acgga cagaa ccagt aattc ttgtt aactc
IVS 9
gtccttatgtactattttcttgattcaatttgatttaattggtcaatgccaattagtaaaggtctataaag
c aggaa tacat gataa aagaa ctaag ttaaa ctaaa ttaac cagtt acggt taatc atttc cagat atttc
aattctctttttttctagaggacacttatggctgcgtttaattttaatttggtttaaatttcagtttttttaaaa
ttaag agaaa aaaag atctc ctgtg aatac cgacg caaat taaaa ttaaa ccaaa tttaa agtca aaaaa atttt
del (1)
670 675 || 690 705
ttactttttaattatagtgtctttaacttttttagACTTTAACAGAAGCTAATGAGAAAATTGAAGTTCAG
aatga aaaat taata tcaca gaaat tgaaa aaatc TGA AAT TGT CTT CGA TTA CTC TTT TAA CTT CAA GTC
ThrLeuThrGluAlaAsnGluLysIleGluValGln
T L T E A N E K I E V Q
224225 230 235
720 735 750 765
AATCAAGAAATGAGAAAAAATTTAGAAGAGTCTGTACAGGAAATGGAGAAGATGACTGATGAATAT
TTA GTT CTT TAC TCT TTT TTA AAT CTT CTC AGA CAT GTC CTT TAC CTC TTC TAC TGA CTA CTT ATA
AsnGlnGluMetArgLysAsnLeuGluGluSerValGlnGluMetGluLysMetThrAspGluTyr
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
AATAGAATGAAAGCTATTGTGCATCAGACAGATAATGTAATAGATCAGTTAAAAAAAGAAAACGAT
TTA TCT TAC TTT CGA TAA CAC GTA GTC TGT CTA TTA CAT TAT CTA GTC AAT TTT TTT CTT TTG CTA
AsnArgMetLysAlaIleValHisGlnThrAspAsnValIleAspGlnLeuLysLysGluAsnAsp
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
CATTATCAACTTCAAgtaagaattacttttagaataacttatttattcagacttcatattatctcattac
GTA ATA GTT GAA GTT cattc ttaat gaaaa tctta ttgaa taaat aagtc tgaag tataa tagag taatg
HisTyrGlnLeuGln
H Y Q L Q
280 284
tatttatttgacactagaaagtactttttctaggatgtgaatttttgtctgtctttttaatagtgtaatatcttg
ataaa taaac tgtga tcttt catga aaaag atcct acact taaaa acaga cagaa aaatt atcac attat agaac
tcatgttggtatatttgtccatatgtgtttctccaatcacctcacaaacactaatttttgcaatttaggatatat
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)
ataagatgcagaaactattaaatgtcacctataattccaggatgacttcaatgataaatacacatatgtaatgta
tattc tacgt ctttg ataat ttaca gtgga tatta aggtc ctact gaagt tacta tttat gtgta tacat tacat
atgtatccgtatgtatgtgtatataagtatgaatacgtatgtgtgtgtatgtagatatatttatatatataatgt
tacat aggca tacat acaca tatat tcata cttat gcata cacac acata catct atata aatat atata ttaca
atatgtaaatatgcacaggtgtaaatatatgttacatcagtttgcaacaactcttgaaataactttgtcttttag
tatac attta tacgt gtcca cattt atata caatg tagtc aaacg ttgtt gagaa cttta ttgaa acaga aaatc
853 870 885 900 915
GTGCAGGAGCTTACAGATCTTCTGAAATCAAAAAATGAAGAAGATGATCCAATTATGGTAGCTGTC
CAC GTC CTC GAA TGT CTA GAA GAC TTT AGT TTT TTA CTT CTT CTA CTA GGT TAA TAC CAT CGA CAG
ValGlnGluLeuThrAspLeuLeuLysSerLysAsnGluGluAspAspProIleMetValAlaVal
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
AATGCAAAAGTAGAAGAATGGAAGgtattttttttcaattgacataataactttttctttttgtatttt
TTA CGT TTT CAT CTT CTT ACC TTC cataa aaaaa agtta actgt attat tgaaa aagaa aaaca taaaa
AsnAlaLysValGluGluTrpLys
N A K V E E W K
310 314
agatttaaattttagtcttatttttctttaaatgtcttatactggtttataacacgtttattagggtttttaaac
tctaa attta aaatc agaat aaaaa gaaat ttaca gaata tgacc aaata ttgtg caaat aatcc caaaa atttg
ataagtttattttatttattggttagaaaagctctagaactgtcctttttgatctctagctaatttgttattgaa
tattc aaata aaata aataa ccaat ctttt cgaga tcttg acagg aaaaa ctaga gatcg attaa acaat aactt
tgacctctttcacatcaatgagtttaactttaaactttttgatagaagtctaactccaaaatatatttggcatct
actgg agaaa gtgta gttac tcaaa ttgaa atttg aaaaa ctatc ttcag attga ggttt tatat aaacc gtaga
IVS 11 (+2012 bp)
aaaagaaaattcggtatatattttaaaatcattttctatttgaatttcaggttgtatatacaaaaggaacagaga
ttttc tttta agcca tatat aaaat tttag taaaa gataa actta aagtc caaca tatat gtttt ccttg tctct
ttatgccagtagttgctcatactttctcatttcaaataatttttattttctgtatcataaatctactaacggtgt
aatac ggtca tcaac gagta tgaaa gagta aagtt tatta aaaat aaaag acata gtatt tagat gattg ccaca
ttattatttatgataatgaagaatgttttattaactttccttttgcataacagattctattgtgtttatttctag
aataa taaat actat tactt cttac aaaat aattg aaagg aaaac gtatt gtcta agata acaca aataa agatc
943 960 975 990 1005
CTAATTTTGTCTTCTAAAGATGATGAAATTATTGAGTATCAGCAAATGTTACATAACCTAAGGGAG
GAT TAA AAC AGA AGA TTT CTA CTA CTT TAA TAA CTC ATA GTC GTT TAC AAT GTA TTG GAT TCC CTC
LeuIleLeuSerSerLysAspAspGluIleIleGluTyrGlnGlnMetLeuHisAsnLeuArgGlu
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
AAACTTAAGAATGCTCAGCTTGATGCTGATAAAAGTAATGTTATGGCTCTACAGCAGgtaaaatctt
TTT GAA TTC TTA CGA GTC GAA CTA CGA CTA TTT TCA TTA CAA TAC CGA GAT GTC GTC cattt tagaa
LysLeuLysAsnAlaGlnLeuAspAlaAspLysSerAsnValMetAlaLeuGlnGln
K L K N A Q L D A D K S N V M A L Q Q
340 345 350 355
aacagaattttgtttatcaaccagttttattacagttggaactctgaacgatgtcttttatttattatatcatca
ttgtc ttaaa acaaa tagtt ggtca aaata atgtc aacct tgaga cttgc tacag aaaat aaata atata gtagt
gtgcctagtgtagcggctggtactaccaagtgtataataatgtcttttgaaatttcttctaccacctggtcccaa
cacgg atcac atcgc cgacc atgat ggttc acata ttatt acaga aaact ttaaa gaaga tggtg gacca gggtt
taaaaaattagaattaagtttagatcacggattagacttagaactagagttactgtgtttatttttctatgttta
atttt ttaat cttaa ttcaa atcta gtgcc taatc tgaat cttga tctca atgac acaaa taaaa agata caaat
IVS 12 (+486 bp)
ttccagagtgttagccattatatccatctttcagtattggagtaacagcagtgtacctatcattgtgtattacag
aaggt ctcac aatcg gtaat atagg tagaa agtca taacc tcatt gtcgt cacat ggata gtaac acata atgtc
ttgaagtgtacaaaatggtaaaaggcatacttgtacccacaagaaaatatgttctacagtcttgttgaaaaaaat
aactt cacat gtttt accat tttcc gtatg aacat gggtg ttctt ttata caaga tgtca gaaca acttt tttta
cagacgtacttttttccttacctttttaggttaatattcatgaagggatatatattgttttaaaatattttatag
gtctg catga aaaaa ggaat ggaaa aatcc aatta taagt acttc cctat atata acaaa atttt ataaa atatc
1066 1080 1095 1110 1125
GGTATACAGGAACGAGACAGTCAAATTAAGATGCTCACCGAACAAGTAGAACAATATACAAAAGAA
CCA TAT GTC CTT GCT CTG TCA GTT TAA TTC TAC GAG TGG CTT GTT CAT CTT GTT ATA TGT TTT CTT
GlyIleGlnGluArgAspSerGlnIleLysMetLeuThrGluGlnValGluGlnTyrThrLysGlu
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
ATGGAAAAGAATACTTGTATTATTGAAGATTTGAAAAATGAGCTCCAAAGAAACAAAGgtatttttat
TAC CTT TTC TTA TGA ACA TAA TAA CTT CTA AAC TTT TTA CTC GAG GTT TCT TTG TTT C cataa aaata
MetGluLysAsnThrCysIleIleGluAspLeuLysAsnGluLeuGlnArgAsnLysGly
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
aaatatatagttattttatatacaattatgtttttaacgactttatttttattaaaataaaatgtcaagtcaata
tttat atatc aataa aatat atgtt aatac aaaaa ttgct gaaat aaaaa taatt ttatt ttaca gttca gttat
ttgagttttctccatttgaattttatattttcaaaaaattgtacaagatatttattattatacttatattactag
aactc aaaag aggta aactt aaaat ataaa agttt tttaa catgt tctat aaata ataat atgaa tataa tgatc
tgcttacatttgtaaatgatggatgcattttctattatttttctcctctggtgaaaattacattaacgtt tatta
acgaa tgtaa acatt tacta cctac gtaaa agata ataaa aagag gagac cactt ttaat gtaat tgcaa ataat
IVS 13 (+ 3619 bp)
ttaaaatccataccccttcagctaagaaggttttactgaacttcagttttttagtaaattgtattagtaaaacca
aattt taggt atggg gaagt cgatt cttcc aaaat gactt gaagt caaaa aatca tttaa cataa tcatt ttggt
aaacaaaactttcatcttacaaatataaaatgacaactttaaaggatttttttttaatggcataccacttttctt
tttgt tttga aagta gaatg tttat atttt actgt tgaaa tttcc taaaa aaaaa ttacc gtatg gtgaa aagaa
gccaccatgttgggatcactgatttgaaggaataagtagtcaattcaattcatgatttttgtttttactctgtag
cggtg gtaca accct agtga ctaaa cttcc ttatt catca gttaa gttaa gtact aaaaa caaaa atgag acatc
1190 1200 1215 1230 1245
GTGCTTCAACCCTTTCTCAACAGACTCATATGAAAATTCAGTCAACGTTAGACATTTTAAAAGAG
CA CGA AGT TGG GAA AGA GTT GTC TGA GTA TAC TTT TAA GTC AGT TGC AAT CTG TAA AAT TTT CTC
GlyAlaSerThrLeuSerGlnGlnThrHisMetLysIleGlnSerThrLeuAspIleLeuLysGlu
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
AAAACTAAAGAGGCTGAGAGAACAGCTGAACTGGCTGAGGCTGATGCTAGGGAAAAGGATAAAGAA
TTT TGA TTT CTC CGA CTC TCT TGT CGA CTT GAC CGA CTC CGA CTA CGA TCC CTT TTC CTA TTT CTT
LysThrLysGluAlaGluArgThrAlaGluLeuAlaGluAlaAspAlaArgGluLysAspLysGlu
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
TTAGTTGAGGCTCTGAAGAGGTTAAAAGATTATGAATCGgtatgtatttttatcttgtcattcaaggag
AAT CAA CTC CGA GAC TTC TCC AAT TTT CTA ATA CTT AGC catac ataaa aatag aacag taagt tcctc
LeuValGluAlaLeuLysArgLeuLysAspTyrGluSer
L V E A L K R L K D Y E S
445 450 453
cttagaattattcttgccattcacagactattctgtgctatttactgcataccatttaaaaaacattccataagt
gaatc ttaat aagaa cggta agtgt ctgat aagac acgat aaatg acgta tggta aattt tttgt aaggt attca
atcttttgataaagattatcctcattaatttatactaaactattgaaacctttgagcatttactttttgccagaa
tagaa aacta tttct aatag gagta attaa atatg atttg ataac tttgg aaact cgtaa atgaa aaacg gtctt
ttgttttcaaacttttgatcacagtgatttgtccaaataatcagttttggtgaagcagcaggattactttttttt
aacaa aagtt tgaaa actag tgtca ctaaa caggt ttatt agtca aaacc acttc gtcgt cctaa tgaaa aaaaa
IVS 14 (+ 240 bp )
actttgcctttaggatattatactggaaagttttaactgttgcatattacatcattattattactggatttggtt
tgaaa cggaa atcct ataat atgac ctttc aaaat tgaca acgta taatg tagta ataat aatga cctaa accaa
tataaaagcacaataaaaaaccagtgtaatgatataaattataggcatatgtacattttcctttagacttagtaa
atatt ttcgt gttat ttttt ggtca catta ctata tttaa tatcc gtata catgt aaaag gaaat ctgaa tcatt
aaaaaaaatcatgaacttgataaatttattcaagtaaaccatgttatattttaaattaaattggatatttttcag
ttttt tttag tactt gaact attta aataa gttca tttgg tacaa tataa aattt aattt aacct ataaa aagtc
1360 1365 1380 1395 1410 1425
GGAGTATATGGTTTAGAAGATGCTGTCGTTGAAATAAAGAATTGTAAAAACCAAATTAAAATAAGA
CCT CAT ATA CCA AAT CTT CTA CGA CAG CAA CTT TAT TTC TTA ACA TTT TTG GTT TAA TTT TAT TCT
GlyValTyrGlyLeuGluAspAlaValValGluIleLysAsnCysLysAsnGlnIleLysIleArg
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
GATCGAGAGATTGAAATATTAACAAAGGAAATCAATAAACTTGAATTGAAGATCAGTGATTTCCTT
CTA GCT CTC TAA CTT TAT AAT TGT TTC CTT TAG TTA TTT GAA CTT AAC TTC TAG TCA CTA AAG GAA
AspArgGluIleGluIleLeuThrLysGluIleAsnLysLeuGluLeuLysIleSerAspPheLeu
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
GATGAAAATGAGGCACTTAGAGAGCGTGTGGgtaagccatgttttaagttacatagtttgcgcaacctgat
CTA CTT TTA CTC CGT GAA TCT CTC GCA CAC C cattc ggtac aaaat tcaat gtatc aaacg cgttg gacta
AspGluAsnGluAlaLeuArgGluArgValGly
D E N E A L R E R V G
500 505 508
ttacaagtctttttttttaatttaaattttgtttattattatttattaagtagtttaatgcttttttcaaatgct
aatgt tcaga aaaaa aaatt aaatt taaaa caaat aataa taaat aattc atcaa attac gaaaa aagtt tacga
tttataaaacatttaatacaaataaaagtggagctaacctgattgaagtggaatcagattttatggggttggagt
aaata ttttg taaat tatgt ttatt ttcac ctcga ttgga ctaac ttcac cttag tctaa aatac cccaa cctca