The CSB mutations database

The CSB cDNA


For each exon, the surrounding sequences are shown in black and the exon sequence in blue

Exon #1
ccgtgagttactgtctcattcttttttttttgagacagggtctcactctgtcgctcaggctggagtgcagtggcc
AGCAGAAGTCGGAGTCGCTGTTGGGGGCGGTGTCTATGGTTGAGCTGAGGGCGCAGGCGCCACGGCCCGTCGAGC
TGGGTTCCAAGGCGGCTGGCGGCGGTAGCGTCTCTGTTTCCTTGTGGGCGCTCGCGCGGCCCTGG
gtgagtgttcgggggtcccggccgaatgtcgggcagggggtgtcggggcccagctcaggcttctcgggcgggccg


Exon #2
tctaattataaaatatttaagaactacaatgaatcctatataacgaaaaggcttataaatttttttccttttag
GTAGTCTGTAGAGAATGCCAAATGAGGGAATCCCCCACTCAAGTCAAACTCAGGAGCAAGACTGTTTACAGAGTC
AACCTGTCAGTAATAATGAAGAAATGGCAATCAAGCAAGAAAGTGGTGGTGATGGGGAGGTGGAGGAGTACCTCT
CCTTTCGTTCTGTGGGTGACGGGCTGTCCACCTCTGCTGTGGGGTGCGCATCAGCAGCTCCGAGGAGAGGGCCAG
CCCTGCTGCACATCGACCGACATCAGATCCAGGCAGTAGAGCCTAGCGCCCAGGCCCTTGAGCTGCAGGGTTTGG
GTGTGGACGTCTATGACCAGGACGTGCTGGAACAGGGAGTGCTTCAGCAGGTGGACAATGCCATCCATGAGGCCA
GCCGTGCCTCCCAGCTCGTTGACGTGGAGAAGGAGTATCGGTCGGTCCTGGATGACCTCAC
gtgagtgcagcccatcttcttcctttcaaagtggtggtaaaacatgacagggatattcaggtaatggaaagctct


Exon #3
agcatttttctctttatattatgctataaaaatgttatcagagtgcaaaatagacaatttatcttatttttcag
GTCATGTACGACATCCCTAAGGCAAATCAATAAAATTATTGAACAGCTTAGCCCTCAAGCTGCCACCAGCAGAGA
CATCAACAGGAAACTAGATTCTGTAAAACGACAGAAGTATAATAAG
gtgattcagaataacattcagtattgcatttttgaaaaagtcatcatttaggggcacttaatttaggaagtattt


Exon #4
cataatgctatcttttgtatttaacaataaatcacttcattgctgttttctgtcttctatatttaccattcaag
GAACAACAGCTAAAAAAGATCACTGCAAAACAAAAGCATCTCCAGGCCATCCTTGGAGGAGCAGAGGTGAAAATT
GAACTAGATCACGCCAGTCTGGAGGAGGATGCAG
gtgaggatgctaggagcagtttctctgtgttcttgaattgatgcctgatgcctgtagtcagtggagggtgtctct


Exon #5
aaagagtgagcatttcttttgtaccctcggaaagtttcatgctagtgcgaaacgcattgctattgttctttcag
AGCCGGGGCCATCCAGTCTTGGCAGCATGCTCATGCCTGTCCAGGAGACTGCCTGGGAAGAGCTCATCCGCACTG
GCCAGATGACACCTTTTGGTACCCAGATCCCTCAGAAACAGGAGAAAAAGCCCAGAAAAATCATGCTTAATGAAG
CATCAGGCTTCGAAAAGTATTTGGCAGATCAAGCAAAACTGTCTTTTGAAAGGAAGAAGCAAGGTTGTAATAAAA
GAGCAGCTAGAAAAGCTCCAGCCCCAGTCACGCCTCCAGCCCCAGTGCAAAATAAAAACAAACCAAACAAGAAAG
CCAGAGTTCTGTCCAAAAAAGAGGAGCGTTTGAAAAAGCACATCAAGAAACTCCAGAAGAGGGCTTTGCAGTTCC
AGGGGAAAGTGGGATTGCCAAAGGCAAGGAGACCTTGGGAGTCAGACATGAGGCCAGAGGCAGAGGGAGACTCTG
AGGGTGAAGAGTCTGAGTATTTCCCCACAGAGGAGGAGGAAGAGGAGGAAGATGACGAGGTGGAGGGGGCAGAGG
CGGACCTGTCTGGAGATGGTACTGACTATGAGCTGAAGCCTCTGCCCAAGGGCGGGAAACGGCAGAAGAAAGTGC
CAGTGCAGGAGATTGATGATGACTTTTTCCCAAGTTCTGGGGAAGAAGCTGAAGCTGCTTCTGTAGGAGAAGGAG
GAGGAGGAGGTCGGAAAGTGGGAAGATACCGAGATGATGGAGATGAAGATTATTATAAGCAGCGGTTAAG
gtcggtctgtggggattataaatacattgtactgtttgctttatcttaggtgacaggtttattaatatgtaagca


Exon #6
attatcaggagctatctttttaaatctgtcttgtgatcaaaataatggaaatgtgatttttattttcatggtag
GAGATGGAATAAACTGAGACTGCAGGACAAAGAGAAACGTCTGAAGCTGGAGGACGATTCTGAGGAAAGTGATGC
TGAATTTGACGAAGGTTTTAAAGTGCCAGGTTTTCTGTTCAAAAAGCTTTTTAA
gtatgtaccatatgttctttcctttctatttgctatcaagccattatgtacaaattaacattttaggaattacat


Exon #7
agtactttctgttatgatctgtattatccaccatttgccattttctcttttcttgttggtgtttgttgtcatag
GTACCAGCAGACAGGTGTTAGGTGGCTGTGGGAATTGCACTGCCAGCAGGCAGGAGGAATTCTGGGAGATGAAAT
GGGATTGGGCAAGACCATCCAGATAATTGCCTTCTTGGCAGGTCTGAGCTACAGCAAGATCAGGACTCGTGGTTC
AAATTACAG
gcaagtgctcctctgcagactgtcagtctgtggagctcaattaatatttcatcagatgtattgctgtggaggagg


Exon #8
gggggatcttttgagcagttgatgactgtatatgctctttcatggttgttttcttcttggacgtttggatgcag
GTTTGAGGGGTTGGGTCCAACTGTAATTGTCTGTCCAACAACAGTGATGCATCAGTGGGTGAAGGAATTTCACAC
GTGGTGGCCTCCGTTCAGAGTGGCAATTCTACATGAAACCGGTTCCTATACCCACAAAAAG
gtaacacaatatttcagtacctttttgttttgttttaatgccctccattttacatatttggtttttctctgatcc


Exon #9
tttagattgtgtcatgattgaaagggtgtcacttcttatttaaaactgactttaccattttattgtggtctcag
GAGAAACTAATTCGAGATGTTGCTCATTGTCATGGAATTTTGATCACATCTTACTCCTACATTCGATTGATGCAG
GATGACATTAGCAGGTATGACTGGCACTATGTGATCTTGGACGAAGGACACAAAATTCGAAATCCAAATGCTGCT
GTCACCCTTGCTTGCAAACAG
gtatgacctcttttaacaagggagatttccaagtggagaagaataattaattcagaataaactatctgcttttag


Exon #10
ggagcgttttagggtaggaatggcgattgctaaaaggtaaatttaataaaaaggtgcttcctttcctcaaatag
TTTCGCACCCCTCATCGGATCATTCTGTCTGGCTCACCGATGCAAAATAACCTCCGAGAGCTGTGGTCGCTCTTT
GACTTCATCTTCCCGGGAAAGTTAGGCACGTTGCCTGTGTTTATGGAGCAGTTCTCCGTCCCCATCACCATGGGG
GGATATTCAAATGCTTCCCCAGTACAG
gtaaaatattaggatgataatacttttggcattttaatatttaaagtgctcctattaaatactataatttgtagc


Exon #11
agcaattgagaggtaagaacaaatgcgttccttaaacatatatagtaatgttcccttctctgctcttattaaag
GTCAAAACTGCTTACAAGTGTGCATGTGTCTTACGAGATACCATAAATCCATACCTACTGCGGAGAATGAAGTCA
GATGTCAAGATGAGCCTTTCTTTGCCAGATAAAAATGAACAG
gtctgtaaatccaggagttaacgaagcattcctaaagcacaagtgtgtctttcccttcactctgattctcctctg


Exon #12
ttttgttgatattttaattatttctgttaattttttttttgaaattatagtttccttgtttttcccgtccgtag
GTCTTATTTTGCCGTCTTACAGATGAGCAGCATAAAGTCTACCAAAATTTCGTTGATTCCAAAGAAGTTTACAGG
ATTCTCAATGGAGAGATGCAG
gtcagctaaaaaatagaagctggagaaatgaattgtggaccaagagaagtgagggaggaaaagaaactaggatct


Exon #13
aacagcctccttgcctagggaatcttactttacatggggtcatctgagtgtacatgtactctttcttaccacag
ATTTTCTCCGGACTTATAGCCCTAAGAAAAATTTGCAACCACCCTGATCTCTTTTCTGGAGGTCCCAAGAATCTC
AAAGGTCTTCCTGATGATGAACTAGAAGAAGATCAGTTTGGGTACTGGAAACGTTCTGGGAAAATGATTGTTGTT
GAGTCTTTGTTGAAAATATGGCACAAGCAGGGTCAGCGAGTATTGCTGTTTTCTCAGTCAAGGCAG
gtgagtgcacagacttcagacgggaaacaggctggttctttatgacagccatcaactcacaaaatgggattcaat


Exon #14
tttacacaaatagagaagcactcactgggaatgtgtatttgctttgcaaactcctatcccccacctccaaacag
ATGCTGGACATACTTGAAGTATTCCTTAGAGCCCAAAAGTATACCTATCTCAAGATGGATGGTACCACTACAATA
GCTTCAAGACAGCCACTGATTACGAGATACAATGAG
gtaacatgtgaatgtaacagggaagttgagtggtgctgctgtacgtggagggaaaggactaagcgtatccacacc


Exon #15
tatgtggaggcagaggctgagaactgtaactggtcttaagtgtgtgtgctcagtgttgtgtgtcttacctctag
GACACATCCATATTTGTGTTTCTTCTGACCACGCGGGTGGGCGGCTTAGGTGTCAACCTGACGGGGGCAAACAGA
GTTGTCATCTATGACCCAGACTGGAACCCAAGCACGGACACGCAG
gtttgtttttattttttttttaaaagaatgtattagtagaaatatagtttcatggttagcgcttttgactgtcct


Exon #16
agctttgtttcttatagtcagtgcttgtcattgggaaggattctcgttgagaggtctctctctctctgttgcag
GCCCGGGAGCGAGCATGGAGAATAGGCCAGAAGAAGCAAGTGACTGTGTACAGGCTCCTGACTGCGGGCACCATT
GAAGAAAAGATCTACCACCG
gtcagtgcacacagtggccactcttggctgtgcgttcccagagtcttgagcagggaatttttccaaagtgttgtt


Exon #17
atattgctttataacttgaatttttaggtagagctacacattgttttataccagcttatcttttatttttttag
ACAAATCTTCAAGCAGTTTTTGACAAATAGAGTGCTAAAAGACCCAAAACAAAGGCGGTTTTTCAAATCCAATGA
TCTCTATGAGCTATTTACTCTGACTAGTCCTGATGCATCCCAGAGCACTGAAACAAGTGCAATTTTTGCAG
gtattacataaaatcatttaatttaaagtaatcaattgcacaagatgatacaatatagtattagtggtgtttttc


Exon #18
aatcatttaatttaaagtaatcaattgcacaagatgatacaatatagtattagtggtgtttttcctctttacag
GAACTGGATCAGATGTTCAGACACCCAAATGCCATCTAAAAAGAAGGATTCAACCAGCCTTTGGAGCAGACCATG
ATGTTCCAAAACGCAAGAAGTTCCCTGCTTCTAACATATCTGTAAATGATGCCACATCATCTGAAGAGAAATCTG
AGGCTAAAGGAGCTGAAGTAAATGCAGTAACTTCTAATCGAAGTGATCCTTTGAAAGATGACCCTCACATGAGTA
GTAATGTAACTAGCAATGATAGGCTTGGAGAAGAGACAAATGCAGTATCTGGACCAGAAGAGTTGTCAGTGATTA
GTGGAAATGGGGAATGTTCAAATTCTTCAGGAACAGGCAAAACTTCTATGCCATCTGGTGATGAAAGCATTGATG
AAAAGTTAGGTCTTTCTTACAAAAGAGAAAGACCCAGCCAGGCTCAAACAGAAGCTTTTTGGGAGAATAAACAAA
TGGAAAATAATTTTTATAAGCACAAGTCAAAAACAAAACATCATAGTGTGGCAGAAGAAGAGACCCTGGAGAAAC
ATCTGAGACCAAAGCAAAAGCCTAAGAACTCTAAGCATTGCAGAGACGCCAAGTTTGAAGGAACTCGAATTCCAC
ACCTGGTGAAGAAAAGGCGTTACCAGAAGCAAGACAGTGAAAACAAGAGTGAGGCCAAGGAACAGAGCAATGACG
ATTATGTTTTGGAAAAGCTTTTCAAAAAATCAG
gtaatccatttgatacgtttgccacagggatgctaggattagaaaatgagtaggctgtttctagcagtagcagtc


Exon #19
acttatacagaggagaaaagtgtctttcttgcatacagagtgaaatatcactttgctatttcttttcttgctag
TTGGCGTGCACAGTGTCATGAAGCACGATGCCATCATGGATGGAGCCAGCCCAGATTATGTACTGGTGGAGGCAG
AAGCCAACCGAGTGGCCCAGGATGCCCTGAAAGCACTGAGGCTCTCTCGTCAGCGGTGTCTGGGAGCAGTGTCTG
GTGTTCCCACCTGGACTGGCCACAGGGGGATTTCTGGTGCACCAGCAGGAAAAAA
gtaagagattgctgcatgccatacttgcaaggagtccaaacaactaaggctagaaataaaatcagggcaggtgtg


Exon #20
tgttgaaagaatattttgatctctaagtctcaaaagcaaacatttaatctactgtgatgcttttccttttttag
GAGTAGATTTGGTAAGAAAAGGAATTCTAACTTCTCTGTGCAGCATCCTTCATCAACATCTCCAACAGAGAAGTG
CCAG
gtaatatagataacctttttgctttccagggtgagacttgcttgattgaatgctgtgaaaatttcacctgattct


Exon #21
acagcctttggggaaggaagtgggggcataaactagaaattaaatatatcagtatagtggtcttctttttatag
GATGGCATCATGAAAAAGGAGGGAAAAGATAATGTCCCTGAGCATTTTAGTGGAAGAGCAGAAGATGCAGACTCT
TCATCCGGGCCCCTCGCTTCCTCCTCACTCTTGGCTAAAATGAGAGCTAGAAACCACCTGATTCTGCCAGAGCGT
TTAGAAAGTGAAAGCGGGCACCTGCAGGAAGCTTCTGCCCTGCTGCCCACCACAGAACACGATGACCTTCTGGTG
GAGATGAGAAACTTCATCGCTTTCCAGGCCCACACTGATGGCCAGGCCAGCACCAGGGAGATACTGCAGGAGTTT
GAATCCAAGTTATCTGCATCACAGTCTTGTGTCTTCCGAGAACTATTGAGAAATCTGTGCACTTTCCATAGAACT
TCTGGTGGTGAAGGAATTTGGAAACTCAAGCCAGAATACTGC
ctaaacaacattgcttcctaaactttcaagtccctttttctaacgggcatttctgattattaatttattattaat