CFTR genomic DNA sequence



Designing Primers: To view full exon & intron DNA sequence for CFTR gene, download a single file with the full genomic sequence as a text, doc or pdf file.

The following DNA sequence appeared in Genomics 10: 214-228 (Zielenski et al., 1991). The sequence may also be found under EMBL/Genbank Accession Nos. M55106-M55131.

CCACCCTTGGAGTTCACTCACCTAAACCTCAAACTAATAAAGCTTGGTTCTTTTCTCCGACACGCAAAGAAGCGCTAAGGTAAATGCATCAGACCCACACTGCCGCGGAACTTTTCGGCTCTCTAAGGCTGTATTTTGATATACGAAAGGCACATTTTCCTTCCCTTTTCAAAATGCACCTTGCAAACGTAACAGGGACCCGACTAGGATCATCGGGAAAAGGAGGAGGAGGAGGAAGGCAGGCTCCGGGGAAGCTGGTGGCAGCGGGTCCTGGGTCTGGCGGACCCTGACGCGAAGGAGGGTCTAGGAAGCTCTCCGGGGAGCCGTTCTCCCGCCGGTGGCTTCTTCTGTCCTCCAGCGTTGCCAACTGGACCTAAAGAGAGGCCGCGACTGTCGCCCACCTGCGGGATGGGCCTGGTGCTGGGCGGTAAGGACACGGACCTGGAAGGAGCGCGCGCGAGGGAGGGAGGCTGGGAGTCAGAATCGGGAAAGGGAGGTGCGGGGCGGCGAGGGAGCGAAGGAGGAGAGGAGGAAGGAGCGGGAGGGGTGCTGGCGGGGGTGCGTAGTGGGTGGAGAAAGCCGCTAGAGCAAATTTGGGGCCGGACCAGGCAGCACTCGGCTTTTAACCTGGGCAGTGAAGGCGGGGGAAAGAGCAAAAGGAAGGGGTGGTGTGCGGAGTAGGGGTGGGTGGGGGGAATTGGAAGCCAAATGACATCACAGCAGGTCAGAGAAAAAGGGTTGAGCGGCAGGCACCCAGAGTAGTAGGTCTTTGGCATTAGGAGCTTGAGCCCAGACGGCC

exon 1 Met Gln Arg Ser Pro Leu Glu Lys Ala Ser Val Val Ser Lys Leu Phe Phe Se

CTAGCAGGGACCCCAGCGCCCGAGAGACC ATG CAG AGG TCG CCT CTG GAA AAG GCC AGC GTT GTC TCC AAA CTT TTT TTC AG GTGAGAAGGTGGCCAACCGAGCTTCGGAAAGACACGTGCCCACGAAAGAGGAGGGCGTGTGTATGGGTTGGGTTGGGGTAAAGGAATAAGCAGTTTTTAAAAAGATGCGCTATCATTCATTGTTTTGAAAGAAAATGTGGGTATTGTAGAATAAAACAGAAAGCATTAAGAAGAGATGGAAGAATGAACTGAAGCTGATTGAATAGAGAGCCACATCTACTTGCAACTGAAAAGTTAGAATCTCAAGACTCAAGTACGCTACTATGCACTTGTTTTATTTCATTTTTCTAAGAAACTAAAAATACTTGTTAATAAGTACCTANGTATGGTTTATTGGTTTTCCCCCTTCATGCCTTGGACACTTGATTGTCTTCTTGGCACATACAGGTGCCATGCCTGCATATAGTAAGTGCTCAGAAAACATTTCTTGACTGAATTCAGCCAACAAAAATTTTGGGGTAGGTAGAAAATATATGCTTAAAGTATTTATTGTTATGAGACTGGATATATCTAGTATTTGTCACAGGTAAATGATTCTTCAAAAATTGAAAGCAAATTTGTTGAAATATTTATTTTGAAAAAAGTTACTTCACAAGCTATAAATTTTAAAAGCCATAGGAATAGATACCGAAGTTATATCCAACTGACATTTAATAAATTGTATTCATAGCCTAATGTGATGAGCCACAGAAGCTT...

...................................................................................................

AAACCATACTATTATTCCCTCCCAATCCCTTTGACAAAGTGACAGTCACATTAGTTCAGAGATATTGATGTTTTATCAGGTGTAGCCTGTAAGAGATGAAGCCTGGTATTTATAGAAATTGACTTATTTTATTCTCATATTTACATGTGCATAATTTTCCATATGCCAGAAAAGTTGAATAGTATCAGATTCCAAATCT

exon 2 r Trp Thr Arg Pro Ile Leu Arg Lys Gly Tyr Arg Gln

GTATGGAGACCAAATCAAGTGAATATCTGTTCCTCCTCTCTTTATTTTAG C TGG ACC AGA CCA ATT TTG AGG AAA GGA TAC AGA CAG

Arg Leu Glu Leu Ser Asp Ile Tyr Gln Ile Pro Ser Val Asp Ser Ala Asp Asn Leu Ser Glu Lys Leu Glu Ar

CGC CTG GAA TTG TCA GAC ATA TAC CAA ATC CCT TCT GTT GAT TCT GCT GAC AAT CTA TCT GAA AAA TTG GAA AG

GTATGTTCATGTACATTGTTTAGTTGAAGAGAGAAATTCATATTATTAATTATTTAGAGAAGAGAAAGCAAACATATATAAGTTTAATTCTTATATTTAAAAATAGGAGCCAAGTATGGTGGCTAATGCCTGTAATCCCAACTATTTGGGAGGCCAAGATGAGAGGATTGCTTGAGACCAGGAGTTTGATACCAGCCTGGGCAACATAGCAAGATGTTATCTCTACACAAAATAAAAAGTTAGCTGGGAATGGTAGTGCATGCTTGTA................................

...................................................................................................

AGGAATCTGCCAGATATCTGGCTGAGTGTTTGGTGTTGTATGGTCTCCATGAGATTTTGTCTCTATAATACTTGGTTAATCTCCTTGGATATACTTGTG

exon 3 g Glu Trp Asp

TGAATCAAACTATGTTAAGGGAAATAGGACAACTAAAATATTTGCACATGCAACTTATTGGTCCCACTTTTTATTCTTTGCAG A GAA TGG GAT

Arg Glu Leu Ala Ser Lys Lys Asn Pro Lys Leu Ile Asn Ala Leu Arg Arg Cys Phe Phe Trp Arg Phe Met Phe

AGA GAG CTG GCT TCA AAG AAA AAT CCT AAA CTC ATT AAT GCC CTT CGG CGA TGT TTT TTC TGG AGA TTT ATG TTC

Tyr Gly Ile Phe Leu Tyr Leu Gly

TAT GGA ATC TTT TTA TAT TTA GGG GTAAGGATCTCATTTGTACATTCATTATGTATCACATAACTATATGCATTTTTGTGATTATGAAAAGA CTACGAAATCTGGTGAATAGGTGTAAAAATATAAAGGATGAATCCAACTCCAAACACTAAGAAACCACCTAAACTCTAGTAAGGATAAGTAA...........................................................................................................

CCACTATTCACTGTTTAACTTAAAATACCTCATATGTAAACTTGTCTCCCACTGTTGCTATAACAAATCCCAAGTCTATTTCAAAGTACCAAGATATTGAAAATAGTGCTAAGAGTTTCACATATGGTATGACCCTCTATATAAACTCATTTTAAGTCTCCTCTAAAGATGAAAAGTCTTGTGTTGAAATTCTCAGGGT

exon 4 Glu Val Thr Lys Ala Val Gln Pro Leu Leu Leu Gly

ATTTTATGAGAAATAAATGAAATTTAATTTCTCTGTTTTTCCCCTTTTGTAG GAA GTC ACC AAA GCA GTA CAG CCT CTC TTA CTG GGA

Arg Ile Ile Ala Ser Tyr Asp Pro Asp Asn Lys Glu Glu Arg Ser Ile Ala Ile Tyr Leu Gly Ile Gly Leu Cys

AGA ATC ATA GCT TCC TAT GAC CCG GAT AAC AAG GAG GAA CGC TCT ATC GCG ATT TAT CTA GGC ATA GGC TTA TGC

Leu Leu Phe Ile Val Arg Thr Leu Leu Leu His Pro Ala Ile Phe Gly Leu His His Ile Gly Met Gln Met Arg

CTT CTC TTT ATT GTG AGG ACA CTG CTC CTA CAC CCA GCC ATT TTT GGC CTT CAT CAC ATT GGA ATG CAG ATG AGA

Ile Ala Met Phe Ser Leu Ile Tyr Lys Lys

ATA GCT ATG TTT AGT TTG ATT TAT AAG AAG GTAATACTTCCTTGCACAGGCCCCATGGCACATATATTCTGTATCGTACATGTTTTAATG TCATAAATTAGGTAGTGAGCTGGTACAAGTAAGGGATAAATGCTGAAATTAATTTAATATGCCTATTAAATAATGGCAGGAATAATTAATGCTCTTAATTATCCTTGATAATTTAATTGACTTAAACTGATAATTATTGAGTATC......................................................

TAATTATTTCTGCCTAGATGCTGGGAAATAAAACAACTAGAAGCATGCCAGTATAATATTGACTGTTGAAGAAACATTTATGAACCTGAGAAGATAGTAAGCTAGATGAATAGAATATAATTTTCATTACCTTTACTTAATAATGAATGCATAATAACTGAATTAGTCATATTATAATTTTACTTATAATATATTTGTA

exon 5 Thr Leu Lys Leu Ser Ser Arg Val Leu Asp Lys Ile Ser Ile

TTTTGTTTGTTGAAATTATCTAACTTTCCATTTTTCTTTTAG ACT TTA AAG CTG TCA AGC CGT GTT CTA GAT AAA ATA AGT ATT

Gly Gln Leu Val Ser Leu Leu Ser Asn Asn Leu Asn Lys Phe Asp Glu

GGA CAA CTT GTT AGT CTC CTT TCC AAC AAC CTG AAC AAA TTT GAT GAA GTATGTACCTATTGATTTAATCTTTTAGGCACTATT

GTTATAAATTATACAACTGGAAAGGCGGAGTTTTCCTGGGTCAGATAATAGTAATTAGTGGTTAAGTCTGCTCAGCTCTAGCTTCCCTATTCTGGAAACTAAGAAAGGTCAATTGTATAGCAGAGCACCATTCTGGGGTCTGGTAGAACCACCCAACTCAAAGGCACCTTAGCCTGTTGTTAATAAGATTTTTCAAAACTTAATTCTTATCAGACCTTGCTTCTTTTAAAC....................................................................GACATGATACTTAAGATGTCCAATCTTGATTCCACTGAATAAAAATATGCTTAAAAATGCACTGACTTGAAATTTGTTTTTTGGGAAAACCGATTCTATGTGTAGAATGTTTAAGCACATTGCTATGTGCTCCATGTAATGATTACCTAGATTTTAGTGTGCTCAGAACCACGAAGTGTTTGATCATATAAGCTCCTTTT

exon 6a Gly Leu Ala

ACTTGCTTTCTTTCATATATGATTGTTAGTTTCTAGGGGTGGAAGATACAATGACACCTGTTTTTGCTGTGCTTTTTTTTCCAG GGA CTT GCA

Leu Ala His Phe Val Trp Ile Ala Pro Leu Gln Val Ala Leu Leu Met Gly Leu Ile Trp Glu Leu Leu Gln Ala

TTG GCA CAT TTC GTG TGG ATC GCT CCT TTG CAA GTG GCA CTC CTC ATG GGG CTA ATC TGG GAG TTG TTA CAG GCG

Ser Ala Phe Cys Gly Leu Gly Phe Leu Ile Val Leu Ala Leu Phe Gln Ala Gly Leu Gly Arg Met Met Met Lys

TCT GCC TTC TGT GGA CTT GGT TTC CTG ATA GTC CTT GCC CTT TTT CAG GCT GGG CTA GGG AGA ATG ATG ATG AAG

Tyr Ar

TAC AG GTAGCAACCTATTTTCATAACTTGAAAGTTTTAAAAATTATGTTTTCAAAAAGCCCACTTTAGTAAAACCAGGACTGTCTATGCATAGAACA GTGATCTTCAGTGTCATTAAATTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTAGATCTGTCACCCAGGCTGGAGTGAGTGGCACGATCTTGGCTCACT GCACTGCAACTTCTGCCTCCCAGGCTCAAGCAATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTAGAGGCGCATGCACACACCCAGCTAATTTTTGTATTTTAGTAGAGACAGGGTTTCACCAGGTTGCCCAGGCTGGTCTCGAATGCCTGACCTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTACTGATATTACAGGCATGAGCTACCGCGCCCGGCCTAAAAAATACTTTTTAAGATGGTGTAAATATTACTTTCTGTATCAATGGTACATTTTTTACTTGTCAGTCTCTAGAATTTCTTTATAAATATGTTGATTCAGTTCATTTTTGTAGATTATAAAACAGGTAAAAAAGGATAAAACATTTATGTGAATTAAAGGGAATACCTAATTTTTGTGTAGAGTTTATTAGCTTTTACTACTCTGGTTTATGGATCATCACACCAGAGCCTTAGTTACTTTGTGTTACAGAATAACTAATATGAGTGAATGAATGACTTACACAAGTCACTGCTTAGGATAAAGGGCTTGAGTTTGTCAGCTAGAGTATGACAGAAAGTATCTAAGTTTTGGAGTCAAATAGCACTTTGTTTGAATCCCAGATTGCATGCTTACTAGTTATGTGACCTTAGTCAAGCCACTTCACCTCACTGAGTCTTTGCTTTTTTCATCTCTAAAATAGAGATACCCACCGCTCATAGGCTGTCATAAGGATAGAGATAGCATATGGAATGAGTCTGTACAGCGTCTGGCACATAGGAGGCATTTACCAAACAGTAGTTATTATTTTTGTTACCATCTATTTGATAATAAAATAATGCCCATCTGTTGAATAAAAGAAATATGACTTAAAACCTTGAGCAGTTCTTAATAGATAATTTGACTTGTTTTTA

exon 6b g Asp Gln Arg Ala Gly Lys Ile Ser Glu Arg Leu Val Ile Thr

CTATTAGATTGATTGATTGATTGATTGATTGATTTACAG A GAT CAG AGA GCT GGG AAG ATC AGT GAA AGA CTT GTG ATT ACC

Ser Glu Met Ile Glu Asn Ile Gln Ser Val Lys Ala Tyr Cys Trp Glu Glu Ala Met Glu Lys Met Ile Glu Asn

TCA GAA ATG ATT GAA AAT ATC CAA TCT GTT AAG GCA TAC TGC TGG GAA GAA GCA ATG GAA AAA ATG ATT GAA AAC

Leu Arg Gl

TTA AGA CA GTAAGTTGTTCCAATAATTTCAATATTGTTAGTAATTCTGTCCTTAATTTTTTAAAAATATGTTTATCATGGTAGACTCCACCTCATA

TTTGATGTTTGTGACAATCAAATGATTGCATTTAAGTTCTGTCAATATTCATGCATTAGTTGCACAAATTCACTTTATGGGCTGTAGTTTTATGTAGTTGGTCCAGGGTGTTATTTTATGCTGCAAGTATATTATACTGATACGTTATTAAAGAATTTCCTACATATGTTCACTGCTGCTCAATACATTTATTTCGTTAAAAACAATTATCAAGATACTGAAGGCTGATTGGTAACTCACATGGAACTGGGAGAGTATACAATTCTGAACCAAATAGATGA......................................................................................................................

TTTACAAGTACTACAAGCAAAACACTGGTACTTTCATTGTTATCTTTTCATATAAGGTAACTGAGGCCCAGAGAGATAAATAACATGCCCAAGGTCACACAGGTCATATGATGTGGAGCCAGGTTAAAAATATAGGCAGAAAGACTCTAGAGACCATGCTCAGATCTTCCATTCCAAGATCCCTGATATTTGAAAAATA

exon 7 n Thr Glu Leu Lys Leu Thr Arg Lys Ala Ala Tyr Val Arg Tyr

AAATAACATCCTGAATTTTATTGTTATTGTTTTTTATAG A ACA GAA CTG AAA CTG ACT CGG AAG GCA GCC TAT GTG AGA TAC

Phe Asn Ser Ser Ala Phe Phe Phe Ser Gly Phe Phe Val Val Phe Leu Ser Val Leu Pro Tyr Ala Leu Ile Lys

TTC AAT AGC TCA GCC TTC TTC TTC TCA GGG TTC TTT GTG GTG TTT TTA TCT GTG CTT CCC TAT GCA CTA ATC AAA

Gly Ile Ile Leu Arg Lys Ile Phe Thr Thr Ile Ser Phe Cys Ile Val Leu Arg Met Ala Val Thr Arg Gln Phe

GGA ATC ATC CTC CGG AAA ATA TTC ACC ACC ATC TCA TTC TGC ATT GTT CTG CGC ATG GCG GTC ACT CGG CAA TTT

Pro Trp Ala Val Gln Thr Trp Tyr Asp Ser Leu Gly Ala Ile Asn Lys Ile Gln

CCC TGG GCT GTA CAA ACA TGG TAT GAC TCT CTT GGA GCA ATA AAC AAA ATA CAG GTAATGTACCATAATGCTGCATTATATA

CTATGATTTAAATAATCAGTCAATAGATCAGTTCTAATGAACTTTGCAAAAATGTGCGAAAAGATAGAAAAGAAATTTCCTTCACTAGGAAGTTATAAAAGTTGCCAGCTAATACTAGGAATGTTCACCTTAAACTTTTCCTAGCATTTCTCTGGACAGTATGATGGATGAGAGTGGCATTTATGCAAATTACCTTAAAATCCCAATAATACTGATGTAGCTAGCAGCTTTGAGAAA..............................................................

...................................................................................................

GCACATTAGTGGGTAATTCAGGGTTGCTTTGTAAATTCATCACTAAGGTTAGCATGTAATAGTACAAGGAAGAATCGTTGTATGTTAAATCTAATGTATAAAAAGTTTTATAAAATATCATATGTTTAGAGAGTATATTTCAAATATGATGAATCCTAGTGCTTGGCAAATTAACTTTAGAACACTAATAAAATTATTTTATTAAGAAATAATTACTATTTCATTATTAAAATTCATATATAAGATGTAGCACAATGAGAGTATAAAGTAGATGTAATAATGCATTAATGCTATTCTGA

exon 8 Asp Phe Leu Gln Lys Gln Glu Tyr Lys Thr Leu Glu Tyr Asn Leu Thr

TTCTATAATATGTTTTTGCTCTCTTTTATAAATAG GAT TTC TTA CAA AAG CAA GAA TAT AAG ACA TTG GAA TAT AAC TTA ACG

Thr Thr Glu Val Val Met Glu Asn Val Thr Ala Phe Trp Glu Glu

ACT ACA GAA GTA GTG ATG GAG AAT GTA ACA GCC TTC TGG GAG GAG GTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAAC

TGTTTTCTTCTTTGTGAATATGGATTTCATCCTAATGGCGAATAAAATTAGAATGATGATATAACTGGTGAACTGGAAGGAGGATCACTCACTTATTTTCTAGATTAAGAAGTAGAGGAATGGCCAGGTGCTCATGGTTGTAATCCCAGCACTTTCGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGCCAACATGGTAAAACCCGGTCTCTACTAAAAATACAAAAAATTAACTG...........................................

...................................................................................................

GGTAGTGACTTTAAAGCTGTGTGACTTTAGTCATTTAACTGCTGAGTCACAGTCTACAGCTTTGAAAGAGGAGGATATAAAATCTATCTCATGTTAATGCTGAAGATTAAATAATAGTGTTTATGTACCCCGCTTATAGGAGAAGAGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTATGTATACATGTATGTATTCAGTCTTTACTGAAATTAAAAAATCTTTAACTTGATAATGGGCAAATATCTTAGTTTTAGATCATGTCCTCTAGAAACCGTATGCTATATAATTATGTACTATAAAGTAATAATGTATACAGTGTAATGGATCATGGGCCATGTGCTTTTCAAACTAATTGTACATAAAACAAGCATCTATTGAAAATATCT

exon 9 Gly Phe Gly Glu Leu Phe Glu Lys Ala Lys

GACAAACTCATCTTTTATTTTTGATGTGTGTGTGTGTGTGTGTGTGTGTTTTTTTAACAG GGA TTT GGG GAA TTA TTT GAG AAA GCA AAA

Gln Asn Asn Asn Asn Arg Lys Thr Ser Asn Gly Asp Asp Ser Leu Phe Phe Ser Asn Phe Ser Leu Leu Gly Thr

CAA AAC AAT AAC AAT AGA AAA ACT TCT AAT GGT GAT GAC AGC CTC TTC TTC AGT AAT TTC TCA CTT CTT GGT ACT

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

CCT GTC CTG AAA GAT ATT AAT TTC AAG ATA GAA AGA GGA CAG TTG TTG GCG GTT GCT GGA TCC ACT GGA GCA GGC

Lys

AAG GTAGTTCTTTTGTTCTTCACTATTAAGAACTTAATTTGGTGTCCATGTCTCTTTTTTTTTCTAGTTTGTAGTGCTGGAAGTATTTTTGGAGAAAT

TCTTACATGAGCATTAGGAGAATGTATGGGTGTAGTGTCTTGTATAATAGAAATTGTTCCACTGATAATTTACTCTGTTTTTTATTTCCTCATATTATTTTCAGTGGCTTTTTCTTCCACATCTTTATATTTTGCACCACATTCAACACTGTATCTTGCACATGGCGAGCATTCAATAACTTTATTGAATAAACAAATCATCCATTTTATCCATTCTTAACCAGAACAGACATTTTTTCAGAGCTGGTCCAGGAAAATCATGACTTACATTTTGCCTTAGTAACCACATAAACAAAAAGTCTCCATTTTTGTTGAC...................................................................................

...................................................................................................

CACTGTAGCTGTACTACCTTCCATCTCCTCAACCTATTCCAACTATCTGAATCATGTGCCCTTCTCTGTGAACCTCATCATAATACTTGTCACACTGTA

TTGTAATTGTCTCTTTTACTTTCCCTTGTATCTTTTGTGCATAGCAGAGTACCTGAAACAGGAAGTATTTAAATATTTTGAATCAAATGAGTTAATAGA

ATCTTTACAAATAAGAATATACACTTCTGCTTAGGATGATAATTGGAGGCAAGTGAATCCTGAGCGTGATTTGATATGACCTAATAATGATGGGTTTTA exon 10 Thr Ser Leu Leu Met Met Ile Met Gly Glu Leu Glu Pro Ser Glu Gly Lys Ile Lys His Ser Gly Arg

TTTCCAG ACT TCA CTT CTA ATG ATG ATT ATG GGA GAA CTG GAG CCT TCA GAG GGT AAA ATT AAG CAC AGT GGA AGA

Ile Ser Phe Cys Ser Gln Phe Ser Trp Ile Met Pro Gly Thr Ile Lys Glu Asn Ile Ile Phe Gly Val Ser Tyr

ATT TCA TTC TGT TCT CAG TTT TCC TGG ATT ATG CCT GGC ACC ATT AAA GAA AAT ATC ATC TTT GGT GTT TCC TAT

Asp Glu Tyr Arg Tyr Arg Ser Val Ile Lys Ala Cys Gln Leu Glu Glu

GAT GAA TAT AGA TAC AGA AGC GTC ATC AAA GCA TGC CAA CTA GAA GAG GTAAGAAACTATGTGAAAACTTTTTGATTATGCATA TGAACCCTTCACACTACCCAAATTATATATTTGGCTCCATATTCAATCGGTTAGTCTACATATATTTATGTTTCCTCTA<>TGGGTAAGCTACTGTGAATGG

ATCAATTAATAAAACACATGACCTATGCTTTAAGAAGCTTGCAAACACATGAAATAAATGCAATTTATTTTTTAAAAATGGGTTCATTTGATCACAATA

AATGCATTTTATGAAATGGTGAGAATTTTGTTCACTCATTAGTGAGACAAACGTCTCAATGGTTATTTATATGGCAGCATATAGTGATATGTGGT....

...................................................................................................

ATATACCCATAAATATACACATATTTTAATTTTTGGTATTTTATAATTATTATTTAATGATCATTCATGACATTTTAAAATTACAGGAAAAATTTACAT

CTAAAATTTCAGCAATGTTGTTTTTGACCAACTAAATAAATTGCATTTGAAATAATGGAGATGCAATGTTCAAAATTCAACTGTGGTTAAAGCAATAGT

exon 11 Asp

GTGATATATGATTACATTAGAAGGAAGATGTGCCTTTCAAATTCAGATTGAGCATACTAAAAGTGACTCCTAATTTTCTATTTTTGGTAATAG GAC

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

ATC TCC AAG TTT GCA GAG AAA GAC AAT ATA GTT CTT GGA GAA GGT GGA ATC ACA CTG AGT GGA GGT CAA CGA GCA

Arg Ile Ser Leu Ala Ar

AGA ATT TCT TTA GCA AG GTGAATAACTAATTATTGGTCTAGCAAGCATTTGCTGTAAATGTCATTCATGTAAAAAAATTACAGACATTTCTCTA

TTGCTTTATATTCTGTTTCTGGAATTGAAAAAATCCTGGGGTTTTATGGCTAGTGGGTTAAGAATCACATTTAAGACTATAAATAATGGTATAGTATCC

AGATTTGGTAGAGATTATGGTTACTCAGAATCTGTGCCCGTATCTTGG.......................................................................................................................................................

CTTACAGTTAGCAAAATCACTTCAGCAGTTCTTGGAATGTTGTGAAAAGTGATAAAAATCTTCTGCAACTTATTCCTTATTCCTCATTTAAAATAATCT

ACCATAGTAAAAACATGTATAAAAGTGCTACTTCTGCACCACTTTTGAGAATAGTGTTATTTCAGTGAATCGAGTGGTGACCATATTGTAATGCATGTA

exon12 g Ala Val Tyr

GTGAACTGTTTAAGGCAAATCATCTACACTAGATGACCAGGAAATAGAGAGGAAATGTAATTTAATTTCCATTTTCTTTTAG A GCA GTA TAC

Lys Asp Ala Asp Leu Tyr Leu Leu Asp Ser Pro Phe Gly Tyr Leu Asp Val Leu Thr Glu Lys Glu Ile Phe Glu

AAA GAT GCT GAT TTG TAT TTA TTA GAC TCT CCT TTT GGA TAC CTA GAT GTT TTA ACA GAA AAA GAA ATA TTT GAA

Se

AG GTATGTTCTTTGAATACCTTACTTATAATGCTCATGCTAAAATAAAAGAAAGACAGACTGTCCCATCATAGATTGCATTTACCTCTTGAGAAATAT

GTTCACCATTGTTGGTATGGCAGAATGTAGCATGGTATTAACTCAAATCTGATCTGCCCTACTGGGCCAGGATTCAGATTACTTCCATTAAAACCTTTT

CTCACCGCCTCATGCTAAACCAGTTTCTCTCATTGCTATACTGTTATAGCAATTGCTATCTATGTAGTTTTGCAGTATCATTGCCTTGTGATATATATT

ACTTTAATT..........................................................................................

...................................................................................................

GAATTCACAAGGTACCAATTTAATTACTACAGAGTACTTATAGAATCATTTAAAATATAATAAAATTGTATGATAGGATTATATGCAATAAAACATTAA

exon 13 r Cys Val Cys Lys Leu

CAAAATGCTAAAATACGAGACATATTGCAATAAAGTATTTATAAAATTGATATTTATATGTTTTTATATTTAAAG C TGT GTC TGT AAA CTG

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

ATG GCT AAC AAA ACT AGG ATT TTG GTC ACT TCT AAA ATG GAA CAT TTA AAG AAA GCT GAC AAA ATA TTA ATT TTG

His Glu Gly Ser Ser Tyr Phe Tyr Gly Thr Phe Ser Glu Leu Gln Asn Leu Gln Pro Asp Phe Ser Ser Lys Leu

CAT GAA GGT AGC AGC TAT TTT TAT GGG ACA TTT TCA GAA CTC CAA AAT CTA CAG CCA GAC TTT AGC TCA AAA CTC

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

ATG GGA TGT GAT TCT TTC GAC CAA TTT AGT GCA GAA AGA AGA AAT TCA ATC CTA ACT GAG ACC TTA CAC CGT TTC

Ser Leu Glu Gly Asp Ala Pro Val Ser Trp Thr Glu Thr Lys Lys Gln Ser Phe Lys Gln Thr Gly Glu Phe Gly

TCA TTA GAA GGA GAT GCT CCT GTC TCC TGG ACA GAA ACA AAA AAA CAA TCT TTT AAA CAG ACT GGA GAG TTT GGG

Glu Lys Arg Lys Asn Ser Ile Leu Asn Pro Ile Asn Ser Ile Arg Lys Phe Ser Ile Val Gln Lys Thr Pro Leu

GAA AAA AGG AAG AAT TCT ATT CTC AAT CCA ATC AAC TCT ATA CGA AAA TTT TCC ATT GTG CAA AAG ACT CCC TTA

Gln Met Asn Gly Ile Glu Glu Asp Ser Asp Glu Pro Leu Glu Arg Arg Leu Ser Leu Val Pro Asp Ser Glu Gln

CAA ATG AAT GGC ATC GAA GAG GAT TCT GAT GAG CCT TTA GAG AGA AGG CTG TCC TTA GTA CCA GAT TCT GAG CAG

Gly Glu Ala Ile Leu Pro Arg Ile Ser Val Ile Ser Thr Gly Pro Thr Leu Gln Ala Arg Arg Arg Gln Ser Val

GGA GAG GCG ATA CTG CCT CGC ATC AGC GTG ATC AGC ACT GGC CCC ACG CTT CAG GCA CGA AGG AGG CAG TCT GTC

Leu Asn Leu Met Thr His Ser Val Asn Gln Gly Gln Asn Ile His Arg Lys Thr Thr Ala Ser Thr Arg Lys Val

CTG AAC CTG ATG ACA CAC TCA GTT AAC CAA GGT CAG AAC ATT CAC CGA AAG ACA ACA GCA TCC ACA CGA AAA GTG

Ser Leu Ala Pro Gln Ala Asn Leu Thr Glu Leu Asp Ile Tyr Ser Arg Arg Leu Ser Gln Glu Thr Gly Leu Glu

TCA CTG GCC CCT CAG GCA AAC TTG ACT GAA CTG GAT ATA TAT TCA AGA AGG TTA TCT CAA GAA ACT GGC TTG GAA

Ile Ser Glu Glu Ile Asn Glu Glu Asp Leu Lys

ATA AGT GAA GAA ATT AAC GAA GAA GAC TTA AAG GTAGGTATACATCGCTTGGGGGTATTTCACCCCACAGAATGCAATTGAGTAGAATG CAATATGTAGCATGTAACAAAATTTACTAAAATCATAGGATTAGGATAAGGTGTATCTTAAAACTCAGAAAGTTGAAGTTCATTAATTATACAAGCAACGTTAAAATGTAAAATAACAAATGATTTCTTTTTGCAATGGACATATCTCTTCCCATAAAATGGGAAAGGATTTAGTTTTTGGTCCTCTACTAAGCCAGTGATAACTGTGACTATAGTTAGAAAGCATTTGCTTTATTACCATCTTGAACCCTCTGTG...........................................

...................................................................................................

GGAAACTTCATTTAGATGGTATCATTCATTTGATAAAAGGTATGCCACTGTTAAGCCTTTAATGGTAAATTGTCCAATAATAATACAGTTATATAATCAGTGATACATTTTTAGAATTTTGAAAAATTACGATGTTTCTCATTTTTAATAAAGCTGTGTTGCTCCAGTAGACATTATTCTGGCTATAGAATGACATCATACATGGCATTTATAATGATTTATATTTGTTAAAATACACTTAGATTCAAGTAATACTATTCTTTTATTTTCATATATTAAAAATAAAACCACAATGGTGG

exon 14a Glu Cys Phe Phe Asp Asp Met Glu Ser Ile Pro Ala Val

CATGAAACTGTACTGTCTTATTGTAATAGCCATAATTCTTTTATTCAG GAG TGC TTT TTT GAT GAT ATG GAG AGC ATA CCA GCA GTG

Thr Thr Trp Asn Thr Tyr Leu Arg Tyr Ile Thr Val His Lys Ser Leu Ile Phe Val Leu Ile Trp Cys Leu Val

ACT ACA TGG AAC ACA TAC CTT CGA TAT ATT ACT GTC CAC AAG AGC TTA ATT TTT GTG CTA ATT TGG TGC TTA GTA

Ile Phe Leu Ala Glu

ATT TTT CTG GCA GAG GTAAGAATGTTCTATTGTAAAGTATTACTGGATTTAAAGTTAAATTAAGATAGTTTGGGGATGTATACATATAATGCAC

ACACATAAATATGTATATATACACATGTATACATGTATAAGTATGCATATATACACACATATATCACTATATGTATTATGTATATATTACATATATTTG

TGATTTTACAGTATATAATGGTATAGATTCATATAGTTCTTAGCTTCTGAAAAATCAACAAGTAGAACCACTACTG.......................

...................................................................................................

GAATTCCATTAACTTAATGTGGTCTCATCACAAATAATAGTACTTAGAACACCTAGTACAGCTGCTGGACCAGGAACACAAAGCAAAGGAAGATGAAAT

TGTGTGTACCTTGATATTGGTACACACATCAAATGGTGTGATGTGAATTTAGATGTGGGCATGGGAGGAATAGGTGAGATGTTAGAAAAAAAATCAACT

exon 14b Val Ala Ala Ser Leu Val Val Leu Trp Leu Leu Gly As

GTGTCTTGTTCCATTCCAG GTG GCT GCT TCT TTG GTT GTG CTG TGG CTC CTT GGA AA GTGAGTATTCCATGTCCTATTGTGTAGAT

TGTGTTTTATTTCTGTTGATTAAATATTGTAATCCACTATGTTTGTATGTATTGTAATCCACTTTGTTTCATTTCTCCAAGCATTATGGTAGTGGAAAGATAAGGTTTTTTGTTTAAATGATGACCATTAGTTGGGTGAGGTGACACATTCCTGTAGTCCTAGCTCCTCCACAGGCTGACGCAGGAGGATCACTTGAGCCCAGGAGTTCAGGGCTGTAGTGTTGTATCATTGTGAGTAGCCACCACCGCACTCCAGCCTGGACAATATAGTGAGATCCTATATCTAAAATAAAATAAAATAAAATGAATAAATTGTGAGCATGTGCAGCTCCTG.....................................................................................................................................................................

TCCTATATCTAAATAAATAAATAAATGAATAAATTGTGAGCATGTGCAGCTCCTGCAGTTTCTAAAGAATATAGTTTGTTCAGTTTCTGTGAAACACAA

TAAAAATATTTGAAATAACATTACATATTTAGGGTTTTCTTCAAATTTTTTAATTTAATAAAGAACAACTCAATCTTATCAATAGTGAGAAAACATATC

TATTTTCTTGCAATAATAGTATGATTTTGAGGTTAAGGGTGCATGCTCTTCTAATGCAAAATATTGTATTATTTAGACTCAAGTTTAGTTCCATTTACA

exon 15 n Thr Pro Leu Gln Asp Lys Gly Asn Ser

TGTATTGGAAATTCAGTAAGTAACTTTGGCTGCCAAATAACGATTTCCTATTTGCTTTACAG C ACT CCT CTT CAA GAC AAA GGG AAT AGT

Thr His Ser Arg Asn Asn Ser Tyr Ala Val Ile Ile Thr Ser Thr Ser Ser Tyr Tyr Val Phe Tyr Ile Tyr Val

ACT CAT AGT AGA AAT AAC AGC TAT GCA GTG ATT ATC ACC AGC ACC AGT TCG TAT TAT GTG TTT TAC ATT TAC GTG

Gly Val Ala Asp Thr Leu Leu Ala Met Gly Phe Phe Arg Gly Leu Pro Leu Val His Thr Leu Ile Thr Val Ser

GGA GTA GCC GAC ACT TTG CTT GCT ATG GGA TTC TTC AGA GGT CTA CCA CTG GTG CAT ACT CTA ATC ACA GTG TCG

Lys Ile Leu His His Lys Met Leu His Ser Val Leu Gln Ala Pro Met Ser Thr Leu Asn Thr Leu Lys Ala G

AAA ATT TTA CAC CAC AAA ATG TTA CAT TCT GTT CTT CAA GCA CCT ATG TCA ACC CTC AAC ACG TTG AAA GCA G GT

ACTTTACTAGGTCTAAGAAATGAAACTGCTGATCCACCATCAATAGGGCCTGTGGTTTTGTTGGTTTTCTAATGGCGTGCTGGCTTTTGCACAGAGGCA TGTGCCTTTGTT.......................................................................................

...................................................................................................

GTAAGATTGTAAGCAGGATGAGTACCCACCTATTCCTGACATAATTTATAGTAAAAGCTATTTCAGAGAAATTGTCGTTACTTGAATCTTACAAGAATCTGAAACTTTTAAAAAGGTTTAAAAGTAAAAGACAATAACTTGAACACATAATTATTTAGAATGTTTGGAAAGAAACAAAAATTTCTAAGTCTATCTGATTCTATTTGCTAATTCTTATTTGGGTTCTGAATGCGTCTACTGTGATCCAAACTTAGTATTGAATATATTGATATATCTTTAAAAAATTAGTGTTTTTTGAG

exon 16 ly Gly Ile Leu Asn Arg Phe Ser Lys Asp Ile Ala Ile Leu Asp Asp Leu Leu Pro

GAATTTGTCATCTTGTATATTATAG GT GGG ATT CTT AAT AGA TTC TCC AAA GAT ATA GCA ATT TTG GAT GAC CTT CTG CCT

Leu Thr Ile Phe Asp Phe Ile Gln

CTT ACC ATA TTT GAC TTC ATC CAG GTATGTAAAAATAAGTACCGTTAAGTATGTCTGTATTATTAAAAAAACAATAACAAAAGCAAATGTGA TTTTGTTTTCATTTTTTATTTGATTGAGGGTTGAAGTCCTGTCTATTGCATTAATTTTGTAATTATCCAAAGCCTTCAAATAGACATAAGTTTAGTAAATTCAATAATAAGTCAGAACTGCTTACCTGGCCCAAACCTGAGGCAATCCCACATTTAGATGTAATAGCTGTCTACTTGGGAGTGATTTGAGAGGCACAAA

GGACCATCTTTCCCAAAATCACTGGCAC.......................................................................

...................................................................................................

AGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTCGACAATGTGCACATGTACCCTAAAACTTAAAGTATAATAAAAAAAATAAAAAAAAGTT TGAGGTGTTTAAAGTATGCAAAAAAAAAAAAAGAAATAAATCACTGACACACTTTGTCCACTTTGCAATGTGAAAATGTTACTCACCAACATGTTTTCT

exon 17a Leu Leu Leu Ile Val Ile Gly Ala Ile Ala Val Val Ala Val Leu Gln Pro Tyr Ile Phe Val Ala

TTGATCTTACAG TTG TTA TTA ATT GTG ATT GGA GCT ATA GCA GTT GTC GCA GTT TTA CAA CCC TAC ATC TTT GTT GCA

Thr Val Pro Val Ile Val Ala Phe Ile Met Leu Arg Ala Tyr Phe Leu Gln Thr Ser Gln Gln Leu Lys Gln Leu

ACA GTG CCA GTG ATA GTG GCT TTT ATT ATG TTG AGA GCA TAT TTC CTC CAA ACC TCA CAG CAA CTC AAA CAA CTG

Glu Ser Glu G

GAA TCT GAA G GTATGACAGTGAATGTGCGATACTCATCTTGTAAAAAAGCTATAAGAGCTATTTGAGATTCTTTATTGTTAATCTACTTAAAAAA ATTCTGCTTTTAAACTTTTACATCATATAACAATAATTTTTTTCTACATGCATGTGTATATAAAAGGAAACTATATTACAAGTACACATGGATTTTTTTTCTTAATTAATGACCATGTGACTTCATTTTGGTTTTAAAATAGGTATATAGAATCTTACCACAGTTGGTGTACAGGACATTCATTTAT............

...................................................................................................

TTCAAAGAATGGCACCAGTGTGAAAAAAAGCTTTTTAACCAATGACATTTGTGATATGATTATTCTAATTAGTCTTTTTCAGGTACAAGATATTATGAA

exon 17b ly Arg Ser Pro Ile Phe Thr His Leu Val Thr

AATTACATTTTGTGTTTATGTTATTTGCAATGTTTTCTATGGAAATATTTCACAG GC AGG AGT CCA ATT TTC ACT CAT CTT GTT ACA

Ser Leu Lys Gly Leu Trp Thr Leu Arg Ala Phe Gly Arg Gln Pro Tyr Phe Glu Thr Leu Phe His Lys Ala Leu

AGC TTA AAA GGA CTA TGG ACA CTT CGT GCC TTC GGA CGG CAG CCT TAC TTT GAA ACT CTG TTC CAC AAA GCT CTG

Asn Leu His Thr Ala Asn Trp Phe Leu Tyr Leu Ser Thr Leu Arg Trp Phe Gln Met Arg Ile Glu Met Ile Phe

AAT TTA CAT ACT GCC AAC TGG TTC TTG TAC CTG TCA ACA CTG CGC TGG TTC CAA ATG AGA ATA GAA ATG ATT TTT

Val Ile Phe Phe Ile Ala Val Thr Phe Ile Ser Ile Leu Thr Thr G

GTC ATC TTC TTC ATT GCT GTT ACC TTC ATT TCC ATT TTA ACA ACA G GTACTATGAACTCATTAACTTTAGCTAAGCATTTAAGT

AAAAAATTTTCAATGAATAAAATGCTGCATTCTATAGGTTATCAATTTTTGATATCTTTAGAGTTTAGTATTAACAAATTTGTTGGTTTATTATTGAACAAGTGATTTCTTTGAAATTTCCATTGTTTTATTGTTAAACAAATAATTTCCTTGAAATCGGTATATATATATATATAGTATATATATATATATATATATATATATACATATATATATATAGTATTATCCCTGTTTTCACAGTTTTAAAAACCGATGCACACAGATTGTCGAGTAGCAATTCTGTGATTGAAGGGGAAATATGTCACCTCTTCATACTCATATTGGTGAAGGGTCCTAGCTTCAAAATTAATAGATTCCTAAAGAGGGGAAATGAAACACCGCATTTACACACACACACACACACACACACACAGAGTTCCTCTTGTCGGTAAGTTTG...................................................................................................................................................................

TTATTACTTATAGAATAATAGTAGAAGAGACAAATATGGTACCTACCCATTACCAACAACACCTCCAATACCAGTACATTTTTTAAAAAGGGCAACACTTTCCTAATATTCAATCGCTCTTTGATTTAAAATCCTGGTTGAATACTTACTATATGCAGAGCATTATTCTATTAGTAGATGCTGTGATGAACTGAGATTTAAAAATTGTTAAAATTAGCATAAAATTGAAATGTAAATTTAATGTGATATGTGCCCTAGGAGAAGTGTGAATAAAGTCGTTCACAGAAGAGAGAAATAAC

exon 18 ly Glu Gly Glu Gly Arg Val Gly Ile Ile Leu Thr Leu Ala Met Asn

ATGAGGTTCATTTACGTCTTTTGTGCATCTATAG GA GAA GGA GAA GGA AGA GTT GGT ATT ATC CTG ACT TTA GCC ATG AAT

Ile Met Ser Thr Leu Gln Trp Ala Val Asn Ser Ser Ile Asp Val Asp Ser Leu

ATC ATG AGT ACA TTG CAG TGG GCT GTA AAC TCC AGC ATA GAT GTG GAT AGC TTG GTAAGTCTTATCATCTTTTTAACTTTTA TGAAAAAAATTCAGACAAGTAACAAAGTATGAGTAATAGCATGAGGAAGAACTATATACCGTATATTGAGCTTAAGAAATAAACATTACAGATAAATTGAGGGTCACTGTGTATCTGTCATTAAATCCTTATCTCTTCTTTCCTTCTCATAGATAGCCACTATGAAGATCTAATACTGCAGTGAGCATTCTTTCACCTGTTTCCTTATTCAGGATTTTCTAGGAGAAATACCTAGGGGTTGTATTGCTGGGTCATAGGATTCACCCATGCTTAAC........................

...................................................................................................

TTCTCTTCAGTTAAACTTTTAATTATATCCAATTATTTCCTGTTAGTTCATTGAAAAGCCCGACAAATAACCAGTGACAAATAGCAAGTGTTGCATTTT

exon 19 Met Arg Ser

ACAAGTTATTTTTTAGGAAGCATCAAACTAATTGTGAAATTGTCTGCCATTCTTAAAAACAAAAATGTTGTTATTTTATTTCAG ATG CGA TCT

Val Ser Arg Val Phe Lys Phe Ile Asp Met Pro Thr Glu Gly Lys Pro Thr Lys Ser Thr Lys Pro Tyr Lys Asn

GTG AGC CGA GTC TTT AAG TTC ATT GAC ATG CCA ACA GAA GGT AAA CCT ACC AAG TCA ACC AAA CCA TAC AAG AAT

Gly Gln Leu Ser Lys Val Met Ile Ile Glu Asn Ser His Val Lys Lys Asp Asp Ile Trp Pro Ser Gly Gly Gln

GGC CAA CTC TCG AAA GTT ATG ATT ATT GAG AAT TCA CAC GTG AAG AAA GAT GAC ATC TGG CCC TCA GGG GGC CAA

Met Thr Val Lys Asp Leu Thr Ala Lys Tyr Thr Glu Gly Gly Asn Ala Ile Leu Glu Asn Ile Ser Phe Ser Ile

ATG ACT GTC AAA GAT CTC ACA GCA AAA TAC ACA GAA GGT GGA AAT GCC ATA TTA GAG AAC ATT TCC TTC TCA ATA

Ser Pro Gly Gln Arg

AGT CCT GGC CAG AGG GTGAGATTTGAACACTGCTTGCTTTGTTAGACTGTGTTCAGTAAGTGAATCCCAGTAGCCTGAAGCAATGTGTTAGC/u>AGA

ATCTATTTGTAACATTATTATTGTACAGTAGAATCAATATTAAACACACATGTTTTATTATATGGAGTCATTATTTTAATATGAAATTTAATTTGCAGAGTCTGAACTATATAT.....................................................................................

...................................................................................................

AAAGGTCAGTGATAAAGGAAGTCTGCATCAGGGGTCCAATTCCTTATGGCCAGTTTCTCTATTCTGTTCCAAGGTTTTTGTCTCCATATATCAACATTGGTCAGGATTGAAAGTGTGCAACAAGGTTTGAATGAATAAGTGAAAATCTTCCACTGGTGACAGGATAAAATATTCCAATGGTTTTTATTGAAGTACAATA

exon 20 Val Gly Leu Leu Gly Arg Thr Gly

CTGAATTATGTTTATGGCATGGTACCTATATGTCACAGAAGTGATCCCATCACTTTTACCTTATAG GTG GGC CTC TTG GGA AGA ACT GGA

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

TCA GGG AAG AGT ACT TTG TTA TCA GCT TTT TTG AGA CTA CTG AAC ACT GAA GGA GAA ATC CAG ATC GAT GGT GTG

Ser Trp Asp Ser Ile Thr Leu Gln Gln Trp Arg Lys Ala Phe Gly Val Ile Pro Gln

TCT TGG GAT TCA ATA ACT TTG CAA CAG TGG AGG AAA GCC TTT GGA GTG ATA CCA CAG GTGAGCAAAAGGACTTAGCCAGAA

AAAAGGCAACTAAATTATATTTTTTACTGCTATTTGATACTTGTACTCAAGAAATTCATATTACTCTGCAAAATATTTTGTTATGCATTGCTGTCTTTTTTTTCTCCAGTGCAGTTTTCTCATAGGCAGAAAAGATGTCTCTAAAAGTTTGGGAATTC.............................................................................................................................................

TTTTTAATATTCTACAATTAACAATTATCTCAATTTCTTTATTCTAAAGACATTGGATTAGAAAAATGTTCACAGGGACTCCAAATATTGCTGTAGTATTTGTTTCTTAAAAGAATGATACAAAGCAGACATGATAAAATATTAAAATTTGAGAGAACTTGATGGTAAGTACATGGGTGTTTCTTATTTTAAAATAATT

exon 21 Lys

TTTCTACTTGAAATATTTTACAATACAATAAGGGAAAAATAAAAAGTTATTTAAGTTATTCATACTTTCTTCTTCTTTCTTTTTTGCTATAG AAA

Val Phe Ile Phe Ser Gly Thr Phe Arg Lys Asn Leu Asp Pro Tyr Glu Gln Trp Ser Asp Gln Glu Ile Trp Lys

GTA TTT ATT TTT TCT GGA ACA TTT AGA AAA AAC TTG GAT CCC TAT GAA CAG TGG AGT GAT CAA GAA ATA TGG AAA

Val Ala Asp Glu

GTT GCA GAT GAG GTAAGGCTGCTAACTGAAATGATTTTGAAAGGGGTAACTCATACCAACACAAATGGCTGATATAGCTGACATCATTCTACCAC

TTTGTGTGCATGTATGTGTGTGCACAACTTTAAAATGGAGTACCCTAACATACCTGGAGCAACAGGTACTTTTACTGGACCTACCCCTAACTGAAATGATTTTGAAAGAGGTAACTCATACCAACACAAATGGTTGATATGGCTAAGATCATTCTACACACTTTGTGTGCATGTATTTCTGTGCACAACTTCAAAAT

GGAGTACCCTAAAATACCTGGCGCGACAAGTACTTTTGACTGAGCCTACTT................................................

...................................................................................................

CACAGTTGACTATTTTATGCTATCTTTTGTCCTCAGTCATGACAGAGTAGAAGATGGGAGGTAGCACCAAGGATGAGTCATACCTCCATCCTTTATGCTACATTCTATCTTCTGTCTACATAAGATGTCATACTAGAGGGCATATCTGCAATGTATACATATTATCTTTTCCAGCATGCATTCAGTTGTGTTGGAATAATTTATGTACACCTTTATAAACGCTGAGCCTCACAAGAGCCATGTGCCACGTATTGTTTCTTACTACTTTTGGATACCTGGCACGTAATAGACACTCATTGAAAGTTTCCTAATGAATGAAGTACAAAGATAAAACAAGTTATAGACTGATTCTTTTGAGCTGTCAAGGTTGTAAATAGACTTTTGCTCAATCAATTCAAATGGTGGCAGGTAGTGGGGGTAGAGGGATTGGTATGAAAAACATAAGCTTTCAGAACTCCTGTGTTTATTTTTAGAATGTCAACTGCTTGAGTGTTTTTAA

exon 22 Val Gly Leu Arg Ser Val Ile Glu Gln Phe Pro Gly Lys Leu Asp Phe

CTCTGTGGTATCTGAACTATCTTCTCTAACTGCAG GTT GGG CTC AGA TCT GTG ATA GAA CAG TTT CCT GGG AAG CTT GAC TTT

Val Leu Val Asp Gly Gly Cys Val Leu Ser His Gly His Lys Gln Leu Met Cys Leu Ala Arg Ser Val Leu Ser

GTC CTT GTG GAT GGG GGC TGT GTC CTA AGC CAT GGC CAC AAG CAG TTG ATG TGC TTG GCT AGA TCT GTT CTC AGT

Lys Ala Lys Ile Leu Leu Leu Asp Glu Pro Ser Ala His Leu Asp Pro Va

AAG GCG AAG ATC TTG CTG CTT GAT GAA CCC AGT GCT CAT TTG GAT CCA GT GTGAGTTTCAGATGTTCTGTTACTTAATAGCAC

AGTGGGAACAGAATCATTATGCCTGCTTCATGGTGACACATATTTCTATTAGGCTGTCATGTCTGCGTGGGGGGTCTCCCAAGATATGAAATAATTGCCCAGTGGAAATGAGCATAAATGCATATTTCCTTGCTAAGAGTTCTTGTGTTTTCTTCCGAAGATAGTTTT...............................

...................................................................................................

GCATGTTTATAGCCCCAAATAAAAGAAGTACTGGTGATTCTACATAATGAAAATGTACTCATTTATTAAAGTTTCTTGAAATATTTGTCCTGTTTATTTATGGATACTTAGAGTCTACCCCATGGTTGAAAAGCTGATTGTGCGTAACGCTATATCAACATTATGTGAAAAGAACTTAAAGAAATAAGTAATTTAAAGA

exon 23 l Thr Tyr

GATAATAGAACAATAGACATATTATCAAGGTAAATACAGATCATTACTGTTCTGTGATATTATGTGTGGTATTTTCTTCTTTTCTAG A ACA TAC

Gln Ile Ile Arg Arg Thr Leu Lys Gln Ala Phe Ala Asp Cys Thr Val Ile Leu Cys Glu His Arg Ile Glu Ala

CAA ATA ATT AGA AGA ACT CTA AAA CAA GCA TTT GCT GAT TGC ACA GTA ATT CTC TGT GAA CAC AGG ATA GAA GCA

Met Leu Glu Cys Gln Gln Phe Leu

ATG CTG GAA TGC CAA CAA TTT TTG GTGAGTCTTTATAACTTTACTTAAGATCTCATTGCCCTTGTAATTCTTGATAACAATCTCACATGTGA

TAGTTCCTGCAAATTGCAACAATGTACAAGTTCTTTTCAAAAATATGTATCATACAGCCATCCAGCTTTAGGCCAGGCACAGTGGCTTACATCTGTAATCCCAATACTTTGGGAGGCTGAGGTGGGGGGATTACTTGAGGCCAGGAATTC...............................................................................

...................................................................................................

AGATGGTAGAACCTCCTTAGAGCAAAAGGACACAGCAGTTAAATGTGACATACCTGATTGTTCAAAATGAAGGCTCTGGACATTGCATTCTTTGACTTT

exon 24 Val Ile

TATTTTCCTTTGAGCCTGTGCCAGTTTCTGTCCCTGCTCTGGTCTGACCTGCCTTCTGTCCCAGATCTCACTAACACCATTTCCCTAG GTC ATA

Glu Glu Asn Lys Val Arg Gln Tyr Asp Ser Ile Gln Lys Leu Leu Asn Glu Arg Ser Leu Phe Arg Gln Ala Ile

GAA GAG AAC AAA GTG CGG CAG TAC GAT TCC ATC CAG AAA CTG CTG AAC GAG AGG AGC CTC TTC CGG CAA GCC ATC

Ser Pro Ser Asp Arg Val Lys Leu Phe Pro His Arg Asn Ser Ser Lys Cys Lys Ser Lys Pro Gln Ile Ala Ala

AGC CCC TCC GAC AGG GTG AAG CTC TTT CCC CAC CGG AAC TCA AGC AAG TGC AAG TCT AAG CCC CAG ATT GCT GCT

Leu Lys Glu Glu Thr Glu Glu Glu Val Gln Asp Thr Arg Leu AM

CTG AAA GAG GAG ACA GAA GAA GAG GTG CAA GAT ACA AGG CTT TAG AGAGCAGCATAAATGTTGACATGGGACATTTGCTCATGGA ATTGGAGCTCGTGGGACAGTCACCTCATGGAATTGGAGCTCGTGGAACAGTTACCTCTGCCTCAGAAAACAAGGATGAATAAGTTTTTTTTTAAAAAAGAAACATTTGGTAAGGGGAATTGAGGACACTGATATGGGTCTTGATAAATGGCTTCCTGGCAATAGTCAAATTGTGTGAAAGGTACTTCAAATCCTTGAAGATTTACCACTTGTGTTTTGCAAGCCAGATTTTCCTGAAAACCCTTGCCATGTGCTAGTAATTGGAAAGGCAGCTCTAAATGTCAATCAGCCTAGTTGATCAGCTTATTGTCTAGTGAAACTCGTTAATTTGTAGTGTTGGAGAAGAACTGAAATCATACTTCTTAGGGTTATGATTAAGTAATGATAACTGGAACTCAGCGGTTTATATAAGCTTGTATTCCTTTTTCTCTCCTCTCCCCATGATGTTTAGAAACACAACTATATTGTTTGCTAAGCATTCCAACTATCTCATTTCCAAGCAAGTATTAGAATACCACAGGAACCACAAGACTGCACATCAAAATATGCCCCATTCAACATCTAGTGAGCAGTCAGGAAAGAGAACTTCCAGATCCTGGAAATCAGGGTTAGTATTGTCCAGGTCTACCAAAAATCTCAATATTTCAGATAATCACAATACATCCCTTACCTGGGAAAGGGCTGTTATAATCTTTCACAGGGGACAGGATGGTTCCCTTACCTGGGAAAGGGCTGTTATAATCTTTCACAGGGGACAGGATGGTTCCCTTGATGAAGAAGTTGATATGCCTTTTCCCAACTCCAGAAAGTGACAAGCTCACAGACCTTTGAACTAGAGTTTAGCTGGAAAAGTATGTTAGTGCAAATTGTCACAGGACAGCCCTTCTTTCCACAGAAGCTCCAGGTAGAGGGTGTGTAAGTAGATAGGCCATGGGCACTGTGGGTAGACACACATGAAGTCCAAGCATTTAGATGTATAGGTTGATGGTGGTATGTTTTCAGGCTAGATGTATGTACTTCATGCTGTCTACACTAAGAGAGAATGAGAGACACACTGAAGAAGCACCAATCATGAATTAGTTTTATATGCTTCTGTTTTATAATTTTGTGAAGCAAAATTTTTTCTCTAGGAAATATTTATTTTAATAATGTTTCAAACATATATTACAATGCTGTATTTTAAAAGAATGATTATGAATTACATTTGTATAAAATAATTTTTATATTTGAAATATTGACTTTTTATGGCACTAGTATTTTTATGAAATATTATGTTAAAACTGGGACAGGGGAGAACCTAGGGTGATATTAACCAGGGGCCATGAATCACCTTTTGGTCTGGAGGGAAGCCTTGGGGCTGATCGAGGTTGTTGCCCACAGCTGTATGATTCCCAGCCAGACACAGCCTCTTAGATGCAGTTCTGAAGAAGATGGTACCACCAGTCTGACTGTTTCCATCAAGGGTACACTGCCTTCTCAACTCCAAACTGACTCTTAAGAAGACTGCATTATATTTATTACTGTAAGAAAATATCACTTGTCAATAAAATCCATACATTTGTGTGAAACTTTGTTGTTTTCAGATGCGTTCACTTGTCATGTTTCATCAGTCTCTCACTCCAATTTCTAAGCTTCATGGAACATGAAACACGAATCTGTCTTTTAGATATAGCCTC........................

[[section]] DNA sequences different from that appeared in Riordan et al. (1989):

Nucleotide position Amino acid change Exon Reference

1990 (C not A) Asn to His 13 Zielenski et al. 1991

2629 (T not C) Leu to Phe 13 Zielenski et al. 1991

Hughes et al. (NL#62) report the presence of an additional T in intron 18 at position 3601-99.

__________________________________________________________

[[section]] Other notes

There is no BamHI site in the cDNA clone T11; the corresponding sequence is changed to GGACCC (instead of GGATCC); it is not clear whether it is a natural mutation. This change is different from the G458V mutation (GTATCC).

For further information, please contact: Lap-Chee Tsui, Department of Genetics, TheHospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8. Telephone: +1 (416) 813-6015; Fax: +1 (416) 813-4931; E-mail: cfdata@sickkids.on.ca