                         SEQUENCE LISTING

<110>  ITEK Ventures Pty Ltd
       The University of Melbourne
       Central Adelaide Local Health Network Incorporated
 
<120>  A GENE AND MUTATIONS THEREOF ASSOCIATED WITH SEIZURE AND MOVEMENT
        DISORDERS

<130>  956595

<150>  AU 2011904493
<151>  2011-10-28

<150>  AU 2012900190
<151>  2012-01-18

<160>  26    

<170>  PatentIn version 3.5

<210>  1
<211>  1021
<212>  DNA
<213>  Homo sapiens

<400>  1
atggcagcca gcagctctga gatctctgag atgaaggggg ttgaggagag tcccaaggtt       60

ccaggcgaag ggcctggcca ttctgaagct gaaactggcc ctccccaggt cctagcaggg      120

gtaccagacc agccagaggc cccgcagcca ggtccaaaca ccactgcggc ccctgtggac      180

tcagggccca aggctgggct ggctccagaa accacagaga ccccggctgg ggcctcagaa      240

acagcccagg ccacagacct cagcttaagc ccaggagggg aatcaaaggc caactgcagc      300

cccgaagacc catgccaaga aacagtgtcc aaaccagaag tgagcaaaga ggccactgca      360

gaccaggggt ccaggctgga gtctgcagcc ccacctgaac cagccccaga gcctgctccc      420

caaccagacc cccggccaga ttcccagcct acccccaagc cagcccttca accagagctc      480

cctacccagg aggaccccac ccctgagatt ctgtctgaga gtgtagggga aaagcaagag      540

aatggggcag tggtgcccct gcaggctggt gatggggaag agggcccagc ccctgagcct      600

cactcaccac cctcaaaaaa atcccccccc agccaatggg gccccccccc gagtgctgca      660

gcagctggtt gaggaggatc gaatgagaag ggcacacagt gggcatccag gatctccccg      720

aggtagcctg agccgccacc ccagctccca gctggcaggt cctggggtgg aggggggtga      780

aggcacccag aaacctcggg actacatcat ccttgccatc ctgtcctgct tctgccccat      840

gtggcctgtc aacatcgtgg ccttcgctta tgctgtcatg tcccggaaca gcctgcagca      900

gggggacgtg gacggggccc agcgtctggg ccgggtagcc aagctcttaa gcatcgtggc      960

gctggtgggg ggagtcctca tcatcatcgc ctcctgcgtc atcaacttag gcgtgtataa     1020

g                                                                     1021


<210>  2
<211>  223
<212>  PRT
<213>  Homo sapiens

<400>  2

Met Ala Ala Ser Ser Ser Glu Ile Ser Glu Met Lys Gly Val Glu Glu 
1               5                   10                  15      


Ser Pro Lys Val Pro Gly Glu Gly Pro Gly His Ser Glu Ala Glu Thr 
            20                  25                  30          


Gly Pro Pro Gln Val Leu Ala Gly Val Pro Asp Gln Pro Glu Ala Pro 
        35                  40                  45              


Gln Pro Gly Pro Asn Thr Thr Ala Ala Pro Val Asp Ser Gly Pro Lys 
    50                  55                  60                  


Ala Gly Leu Ala Pro Glu Thr Thr Glu Thr Pro Ala Gly Ala Ser Glu 
65                  70                  75                  80  


Thr Ala Gln Ala Thr Asp Leu Ser Leu Ser Pro Gly Gly Glu Ser Lys 
                85                  90                  95      


Ala Asn Cys Ser Pro Glu Asp Pro Cys Gln Glu Thr Val Ser Lys Pro 
            100                 105                 110         


Glu Val Ser Lys Glu Ala Thr Ala Asp Gln Gly Ser Arg Leu Glu Ser 
        115                 120                 125             


Ala Ala Pro Pro Glu Pro Ala Pro Glu Pro Ala Pro Gln Pro Asp Pro 
    130                 135                 140                 


Arg Pro Asp Ser Gln Pro Thr Pro Lys Pro Ala Leu Gln Pro Glu Leu 
145                 150                 155                 160 


Pro Thr Gln Glu Asp Pro Thr Pro Glu Ile Leu Ser Glu Ser Val Gly 
                165                 170                 175     


Glu Lys Gln Glu Asn Gly Ala Val Val Pro Leu Gln Ala Gly Asp Gly 
            180                 185                 190         


Glu Glu Gly Pro Ala Pro Glu Pro His Ser Pro Pro Ser Lys Lys Ser 
        195                 200                 205             


Pro Pro Ser Gln Trp Gly Pro Pro Pro Ser Ala Ala Ala Ala Gly 
    210                 215                 220             


<210>  3
<211>  1021
<212>  DNA
<213>  Homo sapiens

<400>  3
atggcagcca gcagctctga gatctctgag atgaaggggg ttgaggagag tcccaaggtt       60

ccaggcgaag ggcctggcca ttctgaagct gaaactggcc ctccccaggt cctagcaggg      120

gtaccagacc agccagaggc cccgcagcca ggtccaaaca ccactgcggc ccctgtggac      180

tcagggccca aggctgggct ggctccagaa accacagaga ccccggctgg ggcctcagaa      240

acagcccagg ccacagacct cagcttaagc ccaggagggg aatcaaaggc caactgcagc      300

cccgaagacc catgccaaga aacagtgtcc aaaccagaag tgagcaaaga ggccactgca      360

gaccaggggt ccaggctgga gtctgcagcc ccacctgaac cagccccaga gcctgctccc      420

caaccagacc cccggccaga ttcccagcct acccccaagc cagcccttca accagagctc      480

cctacccagg aggaccccac ccctgagatt ctgtctgaga gtgtagggga aaagcaagag      540

aatggggcag tggtgcccct gcaggctggt gatggggaag agggcccagc ccctgagcct      600

cactcaccac cctcaaaaaa atccccccca gccaatgggg cccccccccc gagtgctgca      660

gcagctggtt gaggaggatc gaatgagaag ggcacacagt gggcatccag gatctccccg      720

aggtagcctg agccgccacc ccagctccca gctggcaggt cctggggtgg aggggggtga      780

aggcacccag aaacctcggg actacatcat ccttgccatc ctgtcctgct tctgccccat      840

gtggcctgtc aacatcgtgg ccttcgctta tgctgtcatg tcccggaaca gcctgcagca      900

gggggacgtg gacggggccc agcgtctggg ccgggtagcc aagctcttaa gcatcgtggc      960

gctggtgggg ggagtcctca tcatcatcgc ctcctgcgtc atcaacttag gcgtgtataa     1020

g                                                                     1021


<210>  4
<211>  223
<212>  PRT
<213>  Homo sapiens

<400>  4

Met Ala Ala Ser Ser Ser Glu Ile Ser Glu Met Lys Gly Val Glu Glu 
1               5                   10                  15      


Ser Pro Lys Val Pro Gly Glu Gly Pro Gly His Ser Glu Ala Glu Thr 
            20                  25                  30          


Gly Pro Pro Gln Val Leu Ala Gly Val Pro Asp Gln Pro Glu Ala Pro 
        35                  40                  45              


Gln Pro Gly Pro Asn Thr Thr Ala Ala Pro Val Asp Ser Gly Pro Lys 
    50                  55                  60                  


Ala Gly Leu Ala Pro Glu Thr Thr Glu Thr Pro Ala Gly Ala Ser Glu 
65                  70                  75                  80  


Thr Ala Gln Ala Thr Asp Leu Ser Leu Ser Pro Gly Gly Glu Ser Lys 
                85                  90                  95      


Ala Asn Cys Ser Pro Glu Asp Pro Cys Gln Glu Thr Val Ser Lys Pro 
            100                 105                 110         


Glu Val Ser Lys Glu Ala Thr Ala Asp Gln Gly Ser Arg Leu Glu Ser 
        115                 120                 125             


Ala Ala Pro Pro Glu Pro Ala Pro Glu Pro Ala Pro Gln Pro Asp Pro 
    130                 135                 140                 


Arg Pro Asp Ser Gln Pro Thr Pro Lys Pro Ala Leu Gln Pro Glu Leu 
145                 150                 155                 160 


Pro Thr Gln Glu Asp Pro Thr Pro Glu Ile Leu Ser Glu Ser Val Gly 
                165                 170                 175     


Glu Lys Gln Glu Asn Gly Ala Val Val Pro Leu Gln Ala Gly Asp Gly 
            180                 185                 190         


Glu Glu Gly Pro Ala Pro Glu Pro His Ser Pro Pro Ser Lys Lys Ser 
        195                 200                 205             


Pro Pro Ala Asn Gly Ala Pro Pro Pro Ser Ala Ala Ala Ala Gly 
    210                 215                 220             


<210>  5
<211>  3994
<212>  DNA
<213>  Homo sapiens

<400>  5
cgggaggggc cggggactta agaaggaggc gtctctcctg gaggcgcgcg tgagaagggg       60

cagggagggg gcgcgagtgg tccccgggcc ggttgcctgg gtaacgcgtg gctcccttgg      120

gctggcggga ggggccggag gctcgcgagg ggcgggggcg gcgacggcgg cggagcgtag      180

gggaggggac cggagaggag gggatgagca cacgggagag gagaagaggg agacccgccg      240

cctccctccc tccctagctg acttgctccc tcccgggctg cggctgctgc aaaagccagc      300

agcggcagcg ggagctgtcc ggaggccggc gtcgaggtga gacccgggca gactgaggct      360

gcgggtagga gtggaccgac cgacggctga cgccgggcgg actgcacggg aatgcgggtg      420

tctggagggc tggtggtggt gctgggcggg ctgaaccatc gggaggaggc gccagcccac      480

cgaaggcgag ggaagccccg ggagaggggc tgacagggga tcgaaggaga taaccaggtc      540

ccccagaaag gggcgggagc gtcctcgccc taaacgcgca gcaagaaaac ccgcaccgcc      600

tgggagccca gggaggaggg gaggatgcag agggagtgga atgcgaatgt cgggtcctct      660

gcccagtcgg cctgtcggag tgctatttgc acagctcgtt gattttgggg tgctgggatc      720

tgagagtctg gatcttgttg gatggaccca gggagagacc ctggagaagg tcctgtttac      780

aaaagggtta atcttcccca gggctctcca agcagaagac tttgagtaga gcactcctcc      840

cgcagggatg tcccacccta aggcaaagga aaccccaact tttcttcctc tccctagagg      900

cagtgcaagg ctggccctga gacaggaatg tggcccaatt gggcctgcag tgctgagcgc      960

cctcttccct cctcacccca agcctatctc ctcctcttcc agggtttgcc gctgtctctg     1020

ctattccatc ctccccatag gggctctctc ccctctccca tctcaagatg gcagccagca     1080

gctctgagat ctctgagatg aagggggttg aggagagtcc caaggttcca ggcgaagggc     1140

ctggccattc tgaagctgaa actggccctc cccaggtcct agcaggggta ccagaccagc     1200

cagaggcccc gcagccaggt ccaaacacca ctgcggcccc tgtggactca gggcccaagg     1260

ctgggctggc tccagaaacc acagagaccc cggctggggc ctcagaaaca gcccaggcca     1320

cagacctcag cttaagccca ggaggggaat caaaggccaa ctgcagcccc gaagacccat     1380

gccaagaaac agtgtccaaa ccagaagtga gcaaagaggc cactgcagac caggggtcca     1440

ggctggagtc tgcagcccca cctgaaccag ccccagagcc tgctccccaa ccagaccccc     1500

ggccagattc ccagcctacc cccaagccag cccttcaacc agagctccct acccaggagg     1560

accccacccc tgagattctg tctgagagtg taggggaaaa gcaagagaat ggggcagtgg     1620

tgcccctgca ggctggtgat ggggaagagg gcccagcccc tgagcctcac tcaccaccct     1680

caaaaaaatc ccccccagcc aatggggccc ccccccgagt gctgcagcag ctggttgagg     1740

aggatcgaat gagaagggca cacagtgggc atccaggatc tccccgaggt agcctgagcc     1800

gccaccccag ctcccagctg gcaggtcctg gggtggaggg gggtgaaggc acccagaaac     1860

ctcgggacta catcatcctt gccatcctgt cctgcttctg ccccatgtgg cctgtcaaca     1920

tcgtggcctt cgcttatgct gtcatgttga gccccatggg accctagccc aggcctgctg     1980

tggctcccag cttcccgcca gcgctgcaat agagcctctg gagtaatcat gccttccttc     2040

ccctctcctc tctgcatgga tcccacctcc ccaattccag ggcctttgtt tgcctctccc     2100

taggacctaa ccctctgagc caccactgcc ctgccccttt gggtgggagg gatatggaaa     2160

cacgtgtcac acagcctcgc tgacctgtgc cctcctcccc ctgccccttc actcctcctt     2220

cctcccttac ccgccatcta tggggctggc ctctctctct tctggatgac ttttccacct     2280

gatcccttct gggctggctt ctcctgaccc cggctatgtg cctccacccc tcgccctaac     2340

cccagtcccg gaacagcctg cagcaggggg acgtggacgg ggcccagcgt ctgggccggg     2400

tagccaagct cttaagcatc gtggcgctgg tggggggagt cctcatcatc atcgcctcct     2460

gcgtcatcaa cttaggcggt gagtgggggc ttgggacagg caggggagga atggaagggt     2520

tggcaagggc agctttacta acccctgccc ctgctctctc ctgtctgtcc tccttacctc     2580

tcctttgtct ctccttgtct ccccctcccc ccgtctgtcc ttccctctcc tctcccacag     2640

tgtataagtg aggggctctg ccccgcatcc caagactttt cttcctgttg ggagctgcct     2700

tgggcccatc cctcccctgg ggggagccca actgatggcc ctggccccca cccctaagga     2760

ccaagggagc ctgagcggcc ttgtttacag cttctgtcct gctcctgcat cttgccaggc     2820

tcctctgcca actgtaggcc tgcctcatcc ctgcactggt tccaacctcc ctgcactaat     2880

gcctgcatcc cctccggcct cttggccccc tatccctgca cttctggaaa cctccctgca     2940

ctctggaaac ctccctgaac acctccccaa ctctgcgctc tcagcctccc tgcatctctc     3000

ctggcctccc tgcacttctt ccagcccccc aaattctctg gacctccacc ctggccgcct     3060

cctcccaact ttcattgtct tggcatctct caaccctcag tcctctcttc cttcccttct     3120

ttatcatctc ccctttcctc tccacgtccc gcccccttcc tcttcctgcc tcctcatctc     3180

ccttaagcat cctcttctcc aacctcccgt caccgtttac tctgcaaaat tgacagcact     3240

tagacgaggc ttgggggcag ggagcagtgt tgggagaggg ctccccaacc ccaggctcgg     3300

actgttctct gctgggacca cccagggtcg gacacccaag ggtgcctggc aggtcgcaga     3360

gttggcaagc cgggcctcgt atggggactc gggtgagggt ggcgagtact ggttccgaac     3420

gcacgcaggg gagaagggag ggacgcggcg ctgacccttc caggtcagct ggagttgacc     3480

cgcccacctg ggcttttcaa ccccagtccg cgagtttctt tcttgaaggt gtgggggcta     3540

gattcattca cgtgcttcgt aatgaaataa tccaaaaaat aggaccaaag cgcccactgg     3600

caggagcgag ggcggggcgc cgcgctctat aattattttc taagatgatg ggggaggttt     3660

gttgcacgcg acagcccgct gaggaggcgg ggaccgagct acaacgcggt tcggatttgg     3720

cgggggtttt tttccttaaa aaaaaaaaaa aaaaaaaaaa aaaagtctgg gggaagaaaa     3780

aaactaaaat tcttaaaaaa aaaaaaaaaa ggctattatc aaactgattt ctcccttttt     3840

gtatgccgga tgctgcatga gtctgaaaca ccaataaacg gagactgcat gagactcgcc     3900

tccaatctcg gttggttcct gcgttcgtcc cgccggcccg gcggtgctgc ctttctggca     3960

gaaccttact gggtggtata cgcatgcgac ttcc                                 3994


<210>  6
<211>  3994
<212>  DNA
<213>  Homo sapiens

<400>  6
cgggaggggc cggggactta agaaggaggc gtctctcctg gaggcgcgcg tgagaagggg       60

cagggagggg gcgcgagtgg tccccgggcc ggttgcctgg gtaacgcgtg gctcccttgg      120

gctggcggga ggggccggag gctcgcgagg ggcgggggcg gcgacggcgg cggagcgtag      180

gggaggggac cggagaggag gggatgagca cacgggagag gagaagaggg agacccgccg      240

cctccctccc tccctagctg acttgctccc tcccgggctg cggctgctgc aaaagccagc      300

agcggcagcg ggagctgtcc ggaggccggc gtcgaggtga gacccgggca gactgaggct      360

gcgggtagga gtggaccgac cgacggctga cgccgggcgg actgcacggg aatgcgggtg      420

tctggagggc tggtggtggt gctgggcggg ctgaaccatc gggaggaggc gccagcccac      480

cgaaggcgag ggaagccccg ggagaggggc tgacagggga tcgaaggaga taaccaggtc      540

ccccagaaag gggcgggagc gtcctcgccc taaacgcgca gcaagaaaac ccgcaccgcc      600

tgggagccca gggaggaggg gaggatgcag agggagtgga atgcgaatgt cgggtcctct      660

gcccagtcgg cctgtcggag tgctatttgc acagctcgtt gattttgggg tgctgggatc      720

tgagagtctg gatcttgttg gatggaccca gggagagacc ctggagaagg tcctgtttac      780

aaaagggtta atcttcccca gggctctcca agcagaagac tttgagtaga gcactcctcc      840

cgcagggatg tcccacccta aggcaaagga aaccccaact tttcttcctc tccctagagg      900

cagtgcaagg ctggccctga gacaggaatg tggcccaatt gggcctgcag tgctgagcgc      960

cctcttccct cctcacccca agcctatctc ctcctcttcc agggtttgcc gctgtctctg     1020

ctattccatc ctccccatag gggctctctc ccctctccca tctcaagatg gcagccagca     1080

gctctgagat ctctgagatg aagggggttg aggagagtcc caaggttcca ggcgaagggc     1140

ctggccattc tgaagctgaa actggccctc cccaggtcct agcaggggta ccagaccagc     1200

cagaggcccc gcagccaggt ccaaacacca ctgcggcccc tgtggactca gggcccaagg     1260

ctgggctggc tccagaaacc acagagaccc cggctggggc ctcagaaaca gcccaggcca     1320

cagacctcag cttaagccca ggaggggaat caaaggccaa ctgcagcccc gaagacccat     1380

gccaagaaac agtgtccaaa ccagaagtga gcaaagaggc cactgcagac caggggtcca     1440

ggctggagtc tgcagcccca cctgaaccag ccccagagcc tgctccccaa ccagaccccc     1500

ggccagattc ccagcctacc cccaagccag cccttcaacc agagctccct acccaggagg     1560

accccacccc tgagattctg tctgagagtg taggggaaaa gcaagagaat ggggcagtgg     1620

tgcccctgca ggctggtgat ggggaagagg gcccagcccc tgagcctcac tcaccaccct     1680

caaaaaaatc ccccccagcc aatggggccc ccccccgagt gctgcagcag ctggttgagg     1740

aggatcgaat gagaagggca cacagtgggc atccaggatc tccccgaggt agcctgagcc     1800

gccaccccag ctcccagctg gcaggtcctg gggtggaggg gggtgaaggc acccagaaac     1860

ctcgggacta catcatcctt gccatcctgt cctgcttctg ccccatgtgg cctgtcaaca     1920

tcgtggcctt cgcttatgct gtcatggtga accccatggg accctagccc aggcctgctg     1980

tggctcccag cttcccgcca gcgctgcaat agagcctctg gagtaatcat gccttccttc     2040

ccctctcctc tctgcatgga tcccacctcc ccaattccag ggcctttgtt tgcctctccc     2100

taggacctaa ccctctgagc caccactgcc ctgccccttt gggtgggagg gatatggaaa     2160

cacgtgtcac acagcctcgc tgacctgtgc cctcctcccc ctgccccttc actcctcctt     2220

cctcccttac ccgccatcta tggggctggc ctctctctct tctggatgac ttttccacct     2280

gatcccttct gggctggctt ctcctgaccc cggctatgtg cctccacccc tcgccctaac     2340

cccagtcccg gaacagcctg cagcaggggg acgtggacgg ggcccagcgt ctgggccggg     2400

tagccaagct cttaagcatc gtggcgctgg tggggggagt cctcatcatc atcgcctcct     2460

gcgtcatcaa cttaggcggt gagtgggggc ttgggacagg caggggagga atggaagggt     2520

tggcaagggc agctttacta acccctgccc ctgctctctc ctgtctgtcc tccttacctc     2580

tcctttgtct ctccttgtct ccccctcccc ccgtctgtcc ttccctctcc tctcccacag     2640

tgtataagtg aggggctctg ccccgcatcc caagactttt cttcctgttg ggagctgcct     2700

tgggcccatc cctcccctgg ggggagccca actgatggcc ctggccccca cccctaagga     2760

ccaagggagc ctgagcggcc ttgtttacag cttctgtcct gctcctgcat cttgccaggc     2820

tcctctgcca actgtaggcc tgcctcatcc ctgcactggt tccaacctcc ctgcactaat     2880

gcctgcatcc cctccggcct cttggccccc tatccctgca cttctggaaa cctccctgca     2940

ctctggaaac ctccctgaac acctccccaa ctctgcgctc tcagcctccc tgcatctctc     3000

ctggcctccc tgcacttctt ccagcccccc aaattctctg gacctccacc ctggccgcct     3060

cctcccaact ttcattgtct tggcatctct caaccctcag tcctctcttc cttcccttct     3120

ttatcatctc ccctttcctc tccacgtccc gcccccttcc tcttcctgcc tcctcatctc     3180

ccttaagcat cctcttctcc aacctcccgt caccgtttac tctgcaaaat tgacagcact     3240

tagacgaggc ttgggggcag ggagcagtgt tgggagaggg ctccccaacc ccaggctcgg     3300

actgttctct gctgggacca cccagggtcg gacacccaag ggtgcctggc aggtcgcaga     3360

gttggcaagc cgggcctcgt atggggactc gggtgagggt ggcgagtact ggttccgaac     3420

gcacgcaggg gagaagggag ggacgcggcg ctgacccttc caggtcagct ggagttgacc     3480

cgcccacctg ggcttttcaa ccccagtccg cgagtttctt tcttgaaggt gtgggggcta     3540

gattcattca cgtgcttcgt aatgaaataa tccaaaaaat aggaccaaag cgcccactgg     3600

caggagcgag ggcggggcgc cgcgctctat aattattttc taagatgatg ggggaggttt     3660

gttgcacgcg acagcccgct gaggaggcgg ggaccgagct acaacgcggt tcggatttgg     3720

cgggggtttt tttccttaaa aaaaaaaaaa aaaaaaaaaa aaaagtctgg gggaagaaaa     3780

aaactaaaat tcttaaaaaa aaaaaaaaaa ggctattatc aaactgattt ctcccttttt     3840

gtatgccgga tgctgcatga gtctgaaaca ccaataaacg gagactgcat gagactcgcc     3900

tccaatctcg gttggttcct gcgttcgtcc cgccggcccg gcggtgctgc ctttctggca     3960

gaaccttact gggtggtata cgcatgcgac ttcc                                 3994


<210>  7
<211>  1023
<212>  DNA
<213>  Homo sapiens

<400>  7
atggcagcca gcagctctga gatctctgag atgaaggggg ttgaggagag tcccaaggtt       60

ccaggcgaag ggcctggcca ttctgaagct gaaactggcc ctccccaggt cctagcaggg      120

gtaccagacc agccagaggc cccgcagcca ggtccaaaca ccactgcggc ccctgtggac      180

tcagggccca aggctgggct ggctccagaa accacagaga ccccggctgg ggcctcagaa      240

acagcccagg ccacagacct cagcttaagc ccaggagggg aatcaaaggc caactgcagc      300

cccgaagacc catgccaaga aacagtgtcc aaaccagaag tgagcaaaga ggccactgca      360

gaccaggggt ccaggctgga gtctgcagcc ccacctgaac cagccccaga gcctgctccc      420

caaccagacc cccggccaga ttcccagcct acccccaagc cagcccttca accagagctc      480

cctacccagg aggaccccac ccctgagatt ctgtctgaga gtgtagggga aaagcaagag      540

aatggggcag tggtgcccct gcaggctggt gatggggaag agggcccagc ccctgagcct      600

cactcaccac cctcaaaaaa atccccccca gccaatgggg cccccccccg agtgctgcag      660

cagctggttg aggaggatcg aatgagaagg gcacacagtg ggcatccagg atctccccga      720

ggtagcctga gccgccaccc cagctcccag ctggcaggtc ctggggtgga ggggggtgaa      780

ggcacccaga aacctcggga ctacatcatc cttgccatcc tgtcctgctt ctgccccatg      840

tggcctgtca acatcgtggc cttcgcttat gctgtcatgt cccggaacag cctgcagcag      900

ggggacgtgg acggggccca gcgtctgggc cgggtagcca agctcttaaa catcgtggcg      960

ctggtggggg gagtcctcat catcatcgcc tcctgcgtca tcaacttagg cgtgtataag     1020

tga                                                                   1023


<210>  8
<211>  340
<212>  PRT
<213>  Homo sapiens

<400>  8

Met Ala Ala Ser Ser Ser Glu Ile Ser Glu Met Lys Gly Val Glu Glu 
1               5                   10                  15      


Ser Pro Lys Val Pro Gly Glu Gly Pro Gly His Ser Glu Ala Glu Thr 
            20                  25                  30          


Gly Pro Pro Gln Val Leu Ala Gly Val Pro Asp Gln Pro Glu Ala Pro 
        35                  40                  45              


Gln Pro Gly Pro Asn Thr Thr Ala Ala Pro Val Asp Ser Gly Pro Lys 
    50                  55                  60                  


Ala Gly Leu Ala Pro Glu Thr Thr Glu Thr Pro Ala Gly Ala Ser Glu 
65                  70                  75                  80  


Thr Ala Gln Ala Thr Asp Leu Ser Leu Ser Pro Gly Gly Glu Ser Lys 
                85                  90                  95      


Ala Asn Cys Ser Pro Glu Asp Pro Cys Gln Glu Thr Val Ser Lys Pro 
            100                 105                 110         


Glu Val Ser Lys Glu Ala Thr Ala Asp Gln Gly Ser Arg Leu Glu Ser 
        115                 120                 125             


Ala Ala Pro Pro Glu Pro Ala Pro Glu Pro Ala Pro Gln Pro Asp Pro 
    130                 135                 140                 


Arg Pro Asp Ser Gln Pro Thr Pro Lys Pro Ala Leu Gln Pro Glu Leu 
145                 150                 155                 160 


Pro Thr Gln Glu Asp Pro Thr Pro Glu Ile Leu Ser Glu Ser Val Gly 
                165                 170                 175     


Glu Lys Gln Glu Asn Gly Ala Val Val Pro Leu Gln Ala Gly Asp Gly 
            180                 185                 190         


Glu Glu Gly Pro Ala Pro Glu Pro His Ser Pro Pro Ser Lys Lys Ser 
        195                 200                 205             


Pro Pro Ala Asn Gly Ala Pro Pro Arg Val Leu Gln Gln Leu Val Glu 
    210                 215                 220                 


Glu Asp Arg Met Arg Arg Ala His Ser Gly His Pro Gly Ser Pro Arg 
225                 230                 235                 240 


Gly Ser Leu Ser Arg His Pro Ser Ser Gln Leu Ala Gly Pro Gly Val 
                245                 250                 255     


Glu Gly Gly Glu Gly Thr Gln Lys Pro Arg Asp Tyr Ile Ile Leu Ala 
            260                 265                 270         


Ile Leu Ser Cys Phe Cys Pro Met Trp Pro Val Asn Ile Val Ala Phe 
        275                 280                 285             


Ala Tyr Ala Val Met Ser Arg Asn Ser Leu Gln Gln Gly Asp Val Asp 
    290                 295                 300                 


Gly Ala Gln Arg Leu Gly Arg Val Ala Lys Leu Leu Asn Ile Val Ala 
305                 310                 315                 320 


Leu Val Gly Gly Val Leu Ile Ile Ile Ala Ser Cys Val Ile Asn Leu 
                325                 330                 335     


Gly Val Tyr Lys 
            340 


<210>  9
<211>  1023
<212>  DNA
<213>  Homo sapiens

<400>  9
atggcagcca gcagctctga gatctctgag atgaaggggg ttgaggagag tcccaaggtt       60

ccaggcgaag ggcctggcca ttctgaagct gaaactggcc ctccccaggt cctagcaggg      120

gtaccagacc agccagaggc cccgcagcca ggtccaaaca ccactgcggc ccctgtggac      180

tcagggccca aggctgggct ggctccagaa accacagaga ccccggctgg ggcctcagaa      240

acagcccagg ccacagacct cagcttaagc ccaggagggg aatcaaaggc caactgcagc      300

cccgaagacc catgccaaga aacagtgtcc aaaccagaag tgagcaaaga ggccactgca      360

gaccaggggt ccaggctgga gtctgcagcc ccacctgaac cagccccaga gcctgctccc      420

caaccagacc cccggccaga ttcccagcct acccccaagc cagcccttca accagagctc      480

cctacccagg aggaccccac ccctgagatt ctgtctgaga gtgtagggga aaagcaagag      540

aatggggcag tggtgcccct gcaggctggt gatggggaag agggcccagc ccctgagcct      600

cactcaccac cctcaaaaaa atccccccca gccaatgggg cccccccccg agtgctgcag      660

cagctggttg aggaggatcg aatgagaagg gcacacagtg ggcatccagg atctccccga      720

ggtagcctga gccgccaccc cagctcccag ctggcaggtc ctggggtgga ggggggtgaa      780

ggcacccaga aacctcggga ctacatcatc cttgccatcc tgtcctgctt ctgccccatg      840

tggcctgtca acatcgtggc cttcgcttat gctgtcatgt cccggaacag cctgcagcag      900

ggggacgtgg acggggccca gcgtctgggc cgggtagcca agctcttaag catcgtggcg      960

ctggtggggg gagtcctcat catcatcgcc tcctgcgtca tcaacttagg cgtgtataag     1020

tga                                                                   1023


<210>  10
<211>  340
<212>  PRT
<213>  Homo sapiens

<400>  10

Met Ala Ala Ser Ser Ser Glu Ile Ser Glu Met Lys Gly Val Glu Glu 
1               5                   10                  15      


Ser Pro Lys Val Pro Gly Glu Gly Pro Gly His Ser Glu Ala Glu Thr 
            20                  25                  30          


Gly Pro Pro Gln Val Leu Ala Gly Val Pro Asp Gln Pro Glu Ala Pro 
        35                  40                  45              


Gln Pro Gly Pro Asn Thr Thr Ala Ala Pro Val Asp Ser Gly Pro Lys 
    50                  55                  60                  


Ala Gly Leu Ala Pro Glu Thr Thr Glu Thr Pro Ala Gly Ala Ser Glu 
65                  70                  75                  80  


Thr Ala Gln Ala Thr Asp Leu Ser Leu Ser Pro Gly Gly Glu Ser Lys 
                85                  90                  95      


Ala Asn Cys Ser Pro Glu Asp Pro Cys Gln Glu Thr Val Ser Lys Pro 
            100                 105                 110         


Glu Val Ser Lys Glu Ala Thr Ala Asp Gln Gly Ser Arg Leu Glu Ser 
        115                 120                 125             


Ala Ala Pro Pro Glu Pro Ala Pro Glu Pro Ala Pro Gln Pro Asp Pro 
    130                 135                 140                 


Arg Pro Asp Ser Gln Pro Thr Pro Lys Pro Ala Leu Gln Pro Glu Leu 
145                 150                 155                 160 


Pro Thr Gln Glu Asp Pro Thr Pro Glu Ile Leu Ser Glu Ser Val Gly 
                165                 170                 175     


Glu Lys Gln Glu Asn Gly Ala Val Val Pro Leu Gln Ala Gly Asp Gly 
            180                 185                 190         


Glu Glu Gly Pro Ala Pro Glu Pro His Ser Pro Pro Ser Lys Lys Ser 
        195                 200                 205             


Pro Pro Ala Asn Gly Ala Pro Pro Arg Val Leu Gln Gln Leu Val Glu 
    210                 215                 220                 


Glu Asp Arg Met Arg Arg Ala His Ser Gly His Pro Gly Ser Pro Arg 
225                 230                 235                 240 


Gly Ser Leu Ser Arg His Pro Ser Ser Gln Leu Ala Gly Pro Gly Val 
                245                 250                 255     


Glu Gly Gly Glu Gly Thr Gln Lys Pro Arg Asp Tyr Ile Ile Leu Ala 
            260                 265                 270         


Ile Leu Ser Cys Phe Cys Pro Met Trp Pro Val Asn Ile Val Ala Phe 
        275                 280                 285             


Ala Tyr Ala Val Met Ser Arg Asn Ser Leu Gln Gln Gly Asp Val Asp 
    290                 295                 300                 


Gly Ala Gln Arg Leu Gly Arg Val Ala Lys Leu Leu Ser Ile Val Ala 
305                 310                 315                 320 


Leu Val Gly Gly Val Leu Ile Ile Ile Ala Ser Cys Val Ile Asn Leu 
                325                 330                 335     


Gly Val Tyr Lys 
            340 


<210>  11
<211>  3994
<212>  DNA
<213>  Homo sapiens

<400>  11
cgggaggggc cggggactta agaaggaggc gtctctcctg gaggcgcgcg tgagaagggg       60

cagggagggg gcgcgagtgg tccccgggcc ggttgcctgg gtaacgcgtg gctcccttgg      120

gctggcggga ggggccggag gctcgcgagg ggcgggggcg gcgacggcgg cggagcgtag      180

gggaggggac cggagaggag gggatgagca cacgggagag gagaagaggg agacccgccg      240

cctccctccc tccctagctg acttgctccc tcccgggctg cggctgctgc aaaagccagc      300

agcggcagcg ggagctgtcc ggaggccggc gtcgaggtga gacccgggca gactgaggct      360

gcgggtagga gtggaccgac cgacggctga cgccgggcgg actgcacggg aatgcgggtg      420

tctggagggc tggtggtggt gctgggcggg ctgaaccatc gggaggaggc gccagcccac      480

cgaaggcgag ggaagccccg ggagaggggc tgacagggga tcgaaggaga taaccaggtc      540

ccccagaaag gggcgggagc gtcctcgccc taaacgcgca gcaagaaaac ccgcaccgcc      600

tgggagccca gggaggaggg gaggatgcag agggagtgga atgcgaatgt cgggtcctct      660

gcccagtcgg cctgtcggag tgctatttgc acagctcgtt gattttgggg tgctgggatc      720

tgagagtctg gatcttgttg gatggaccca gggagagacc ctggagaagg tcctgtttac      780

aaaagggtta atcttcccca gggctctcca agcagaagac tttgagtaga gcactcctcc      840

cgcagggatg tcccacccta aggcaaagga aaccccaact tttcttcctc tccctagagg      900

cagtgcaagg ctggccctga gacaggaatg tggcccaatt gggcctgcag tgctgagcgc      960

cctcttccct cctcacccca agcctatctc ctcctcttcc agggtttgcc gctgtctctg     1020

ctattccatc ctccccatag gggctctctc ccctctccca tctcaagatg gcagccagca     1080

gctctgagat ctctgagatg aagggggttg aggagagtcc caaggttcca ggcgaagggc     1140

ctggccattc tgaagctgaa actggccctc cccaggtcct agcaggggta ccagaccagc     1200

cagaggcccc gcagccaggt ccaaacacca ctgcggcccc tgtggactca gggcccaagg     1260

ctgggctggc tccagaaacc acagagaccc cggctggggc ctcagaaaca gcccaggcca     1320

cagacctcag cttaagccca ggaggggaat caaaggccaa ctgcagcccc gaagacccat     1380

gccaagaaac agtgtccaaa ccagaagtga gcaaagaggc cactgcagac caggggtcca     1440

ggctggagtc tgcagcccca cctgaaccag ccccagagcc tgctccccaa ccagaccccc     1500

ggccagattc ccagcctacc cccaagccag cccttcaacc agagctccct acccaggagg     1560

accccacccc tgagattctg tctgagagtg taggggaaaa gcaagagaat ggggcagtgg     1620

tgcccctgca ggctggtgat ggggaagagg gcccagcccc tgagcctcac tcaccaccct     1680

caaaaaaatc ccccccagcc aatggggccc ccccccgagt gctgcagcag ctggttgagg     1740

aggatcgaat gagaagggca cacagtgggc atccaggatc tccccgaggt agcctgagcc     1800

gccaccccag ctcccagctg gcaggtcctg gggtggaggg gggtgaaggc acccagaaac     1860

ctcgggacta catcatcctt gccatcctgt cctgcttctg ccccatgtgg cctgtcaaca     1920

tcgtggcctt cgcttatgct gtcatggtga gccccatggg accctagccc aggcctgctg     1980

tggctcccag cttcccgcca gcgctgcaat agagcctctg gagtaatcat gccttccttc     2040

ccctctcctc tctgcatgga tcccacctcc ccaattccag ggcctttgtt tgcctctccc     2100

taggacctaa ccctctgagc caccactgcc ctgccccttt gggtgggagg gatatggaaa     2160

cacgtgtcac acagcctcgc tgacctgtgc cctcctcccc ctgccccttc actcctcctt     2220

cctcccttac ccgccatcta tggggctggc ctctctctct tctggatgac ttttccacct     2280

gatcccttct gggctggctt ctcctgaccc cggctatgtg cctccacccc tcgccctaac     2340

cccagtcccg gaacagcctg cagcaggggg acgtggacgg ggcccagcgt ctgggccggg     2400

tagccaagct cttaagcatc gtggcgctgg tggggggagt cctcatcatc atcgcctcct     2460

gcgtcatcaa cttaggcggt gagtgggggc ttgggacagg caggggagga atggaagggt     2520

tggcaagggc agctttacta acccctgccc ctgctctctc ctgtctgtcc tccttacctc     2580

tcctttgtct ctccttgtct ccccctcccc ccgtctgtcc ttccctctcc tctcccacag     2640

tgtataagtg aggggctctg ccccgcatcc caagactttt cttcctgttg ggagctgcct     2700

tgggcccatc cctcccctgg ggggagccca actgatggcc ctggccccca cccctaagga     2760

ccaagggagc ctgagcggcc ttgtttacag cttctgtcct gctcctgcat cttgccaggc     2820

tcctctgcca actgtaggcc tgcctcatcc ctgcactggt tccaacctcc ctgcactaat     2880

gcctgcatcc cctccggcct cttggccccc tatccctgca cttctggaaa cctccctgca     2940

ctctggaaac ctccctgaac acctccccaa ctctgcgctc tcagcctccc tgcatctctc     3000

ctggcctccc tgcacttctt ccagcccccc aaattctctg gacctccacc ctggccgcct     3060

cctcccaact ttcattgtct tggcatctct caaccctcag tcctctcttc cttcccttct     3120

ttatcatctc ccctttcctc tccacgtccc gcccccttcc tcttcctgcc tcctcatctc     3180

ccttaagcat cctcttctcc aacctcccgt caccgtttac tctgcaaaat tgacagcact     3240

tagacgaggc ttgggggcag ggagcagtgt tgggagaggg ctccccaacc ccaggctcgg     3300

actgttctct gctgggacca cccagggtcg gacacccaag ggtgcctggc aggtcgcaga     3360

gttggcaagc cgggcctcgt atggggactc gggtgagggt ggcgagtact ggttccgaac     3420

gcacgcaggg gagaagggag ggacgcggcg ctgacccttc caggtcagct ggagttgacc     3480

cgcccacctg ggcttttcaa ccccagtccg cgagtttctt tcttgaaggt gtgggggcta     3540

gattcattca cgtgcttcgt aatgaaataa tccaaaaaat aggaccaaag cgcccactgg     3600

caggagcgag ggcggggcgc cgcgctctat aattattttc taagatgatg ggggaggttt     3660

gttgcacgcg acagcccgct gaggaggcgg ggaccgagct acaacgcggt tcggatttgg     3720

cgggggtttt tttccttaaa aaaaaaaaaa aaaaaaaaaa aaaagtctgg gggaagaaaa     3780

aaactaaaat tcttaaaaaa aaaaaaaaaa ggctattatc aaactgattt ctcccttttt     3840

gtatgccgga tgctgcatga gtctgaaaca ccaataaacg gagactgcat gagactcgcc     3900

tccaatctcg gttggttcct gcgttcgtcc cgccggcccg gcggtgctgc ctttctggca     3960

gaaccttact gggtggtata cgcatgcgac ttcc                                 3994


<210>  12
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  Oligonucleotide primer

<400>  12
tcactcacca ccctcaaa                                                     18


<210>  13
<211>  18
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  Oligonucleotide primer

<400>  13
cattcgatcc tcctcaac                                                     18


<210>  14
<211>  85
<212>  DNA
<213>  Homo sapiens

<400>  14
tcactcacca ccctcaaaaa aatccccccc agccaatggg gccccccccc gagtgctgca       60

gcagctggtt gaggaggatc gaatg                                             85


<210>  15
<211>  51
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LPO probe - MLPA analysis exon 1

<400>  15
gggttcccta agggttggat gggatgagca cacgggagag gagaagaggg a                51


<210>  16
<211>  53
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RPO probe - MLPA analysis exon 1 (5' phosphorylated)

<400>  16
gacccgccgc ctccctccct ccctagctga tctagattgg atcttgctgg cac              53


<210>  17
<211>  55
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LPO probe - MLPA analysis exon 2-1

<400>  17
gggttcccta agggttggat tctatctcct cctcttccag ggtttgccgc tgtct            55


<210>  18
<211>  58
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RPO probe - MLPA analysis exon 2-1 (5' phosphorylated)

<400>  18
ctgctattcc atcctcccca taggggctct ctctttctag attggatctt gctggcac         58


<210>  19
<211>  47
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LPO probe - MLPA analysis exon 2-2

<400>  19
gggttcccta agggttggat ctacccagga ggaccccacc cctgaga                     47


<210>  20
<211>  52
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RPO probe - MLPA analysis exon 2-2 (5' phosphorylated)

<400>  20
ttctgtctga gagtgtaggg gaaaagcatt ctagattgga tcttgctggc ac               52


<210>  21
<211>  72
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LPO probe - MLPA analysis exon 2-3

<400>  21
gggttcccta agggttggag actacatcat ccttgccatc ctgtcctgct tctgccccat       60

gtggcctgtc aa                                                           72


<210>  22
<211>  52
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RPO probe - MLPA analysis exon 2-3 (5' phosphorylated)

<400>  22
catcgtggcc ttcgcttatg ctgtcatggt ctagattgga tcttgctggc ac               52


<210>  23
<211>  64
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LPO probe - MLPA analysis exon 3

<400>  23
gggttcccta agggttggat agccaagctc ttaagcatcg tggcgctggt ggggggagtc       60

ctca                                                                    64


<210>  24
<211>  54
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RPO probe - MLPA analysis exon 3 (5' phosphorylated)

<400>  24
tcatcatcgc ctcctgcgtc atcaacttag ttctagattg gatcttgctg gcac             54


<210>  25
<211>  71
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  LPO probe - MLPA analysis exon 4

<400>  25
gggttcccta agggttggag accaagggag cctgagcggc cttgtttaca gcttctgtcc       60

tgctcctgca t                                                            71


<210>  26
<211>  62
<212>  DNA
<213>  Artificial Sequence

<220>
<223>  RPO probe - MLPA analysis exon 4 (5' phosphorylated)

<400>  26
cttgccaggc tcctctgcca actgtaggcc tgcctcatct ctagattgga tcttgctggc       60

ac                                                                      62


