                         SEQUENCE LISTING

<110>  INSERM
 
<120>  METHODS FOR DIAGNOSING AND TREATING MYHRE SYNDROME

<130>  BIO11179 CORMIER / MC

<160>  2     

<170>  PatentIn version 3.3

<210>  1
<211>  1659
<212>  DNA
<213>  Homo sapiens

<400>  1
atggacaata tgtctattac gaatacacca acaagtaatg atgcctgtct gagcattgtg     60

catagtttga tgtgccatag acaaggtgga gagagtgaaa catttgcaaa aagagcaatt    120

gaaagtttgg taaagaagct gaaggagaaa aaagatgaat tggattcttt aataacagct    180

ataactacaa atggagctca tcctagtaaa tgtgttacca tacagagaac attggatggg    240

aggcttcagg tggctggtcg gaaaggattt cctcatgtga tctatgcccg tctctggagg    300

tggcctgatc ttcacaaaaa tgaactaaaa catgttaaat attgtcagta tgcgtttgac    360

ttaaaatgtg atagtgtctg tgtgaatcca tatcactacg aacgagttgt atcacctgga    420

attgatctct caggattaac actgcagagt aatgctccat caagtatgat ggtgaaggat    480

gaatatgtgc atgactttga gggacagcca tcgttgtcca ctgaaggaca ttcaattcaa    540

accatccagc atccaccaag taatcgtgca tcgacagaga catacagcac cccagctctg    600

ttagccccat ctgagtctaa tgctaccagc actgccaact ttcccaacat tcctgtggct    660

tccacaagtc agcctgccag tatactgggg ggcagccata gtgaaggact gttgcagata    720

gcatcagggc ctcagccagg acagcagcag aatggattta ctggtcagcc agctacttac    780

catcataaca gcactaccac ctggactgga agtaggactg caccatacac acctaatttg    840

cctcaccacc aaaacggcca tcttcagcac cacccgccta tgccgcccca tcccggacat    900

tactggcctg ttcacaatga gcttgcattc cagcctccca tttccaatca tcctgctcct    960

gagtattggt gttccattgc ttactttgaa atggatgttc aggtaggaga gacatttaag   1020

gttccttcaa gctgccctat tgttactgtt gatggatacg tggacccttc tggaggagat   1080

cgcttttgtt tgggtcaact ctccaatgtc cacaggacag aagccattga gagagcaagg   1140

ttgcacatag gcaaaggtgt gcagttggaa tgtaaaggtg aaggtgatgt ttgggtcagg   1200

tgccttagtg accacgcggt ctttgtacag agttactact tagacagaga agctgggcgt   1260

gcacctggag atgctgttca taagatctac ccaagtgcat atataaaggt ctttgatttg   1320

cgtcagtgtc atcgacagat gcagcagcag gcggctactg cacaagctgc agcagctgcc   1380

caggcagcag ccgtggcagg aaacatccct ggcccaggat cagtaggtgg aatagctcca   1440

gctatcagtc tgtcagctgc tgctggaatt ggtgttgatg accttcgtcg cttatgcata   1500

ctcaggatga gttttgtgaa aggctgggga ccggattacc caagacagag catcaaagaa   1560

acaccttgct ggattgaaat tcacttacac cgggccctcc agctcctaga cgaagtactt   1620

cataccatgc cgattgcaga cccacaacct ttagactga                          1659


<210>  2
<211>  552
<212>  PRT
<213>  Homo sapiens

<400>  2

Met Asp Asn Met Ser Ile Thr Asn Thr Pro Thr Ser Asn Asp Ala Cys 
1               5                   10                  15      


Leu Ser Ile Val His Ser Leu Met Cys His Arg Gln Gly Gly Glu Ser 
            20                  25                  30          


Glu Thr Phe Ala Lys Arg Ala Ile Glu Ser Leu Val Lys Lys Leu Lys 
        35                  40                  45              


Glu Lys Lys Asp Glu Leu Asp Ser Leu Ile Thr Ala Ile Thr Thr Asn 
    50                  55                  60                  


Gly Ala His Pro Ser Lys Cys Val Thr Ile Gln Arg Thr Leu Asp Gly 
65                  70                  75                  80  


Arg Leu Gln Val Ala Gly Arg Lys Gly Phe Pro His Val Ile Tyr Ala 
                85                  90                  95      


Arg Leu Trp Arg Trp Pro Asp Leu His Lys Asn Glu Leu Lys His Val 
            100                 105                 110         


Lys Tyr Cys Gln Tyr Ala Phe Asp Leu Lys Cys Asp Ser Val Cys Val 
        115                 120                 125             


Asn Pro Tyr His Tyr Glu Arg Val Val Ser Pro Gly Ile Asp Leu Ser 
    130                 135                 140                 


Gly Leu Thr Leu Gln Ser Asn Ala Pro Ser Ser Met Met Val Lys Asp 
145                 150                 155                 160 


Glu Tyr Val His Asp Phe Glu Gly Gln Pro Ser Leu Ser Thr Glu Gly 
                165                 170                 175     


His Ser Ile Gln Thr Ile Gln His Pro Pro Ser Asn Arg Ala Ser Thr 
            180                 185                 190         


Glu Thr Tyr Ser Thr Pro Ala Leu Leu Ala Pro Ser Glu Ser Asn Ala 
        195                 200                 205             


Thr Ser Thr Ala Asn Phe Pro Asn Ile Pro Val Ala Ser Thr Ser Gln 
    210                 215                 220                 


Pro Ala Ser Ile Leu Gly Gly Ser His Ser Glu Gly Leu Leu Gln Ile 
225                 230                 235                 240 


Ala Ser Gly Pro Gln Pro Gly Gln Gln Gln Asn Gly Phe Thr Gly Gln 
                245                 250                 255     


Pro Ala Thr Tyr His His Asn Ser Thr Thr Thr Trp Thr Gly Ser Arg 
            260                 265                 270         


Thr Ala Pro Tyr Thr Pro Asn Leu Pro His His Gln Asn Gly His Leu 
        275                 280                 285             


Gln His His Pro Pro Met Pro Pro His Pro Gly His Tyr Trp Pro Val 
    290                 295                 300                 


His Asn Glu Leu Ala Phe Gln Pro Pro Ile Ser Asn His Pro Ala Pro 
305                 310                 315                 320 


Glu Tyr Trp Cys Ser Ile Ala Tyr Phe Glu Met Asp Val Gln Val Gly 
                325                 330                 335     


Glu Thr Phe Lys Val Pro Ser Ser Cys Pro Ile Val Thr Val Asp Gly 
            340                 345                 350         


Tyr Val Asp Pro Ser Gly Gly Asp Arg Phe Cys Leu Gly Gln Leu Ser 
        355                 360                 365             


Asn Val His Arg Thr Glu Ala Ile Glu Arg Ala Arg Leu His Ile Gly 
    370                 375                 380                 


Lys Gly Val Gln Leu Glu Cys Lys Gly Glu Gly Asp Val Trp Val Arg 
385                 390                 395                 400 


Cys Leu Ser Asp His Ala Val Phe Val Gln Ser Tyr Tyr Leu Asp Arg 
                405                 410                 415     


Glu Ala Gly Arg Ala Pro Gly Asp Ala Val His Lys Ile Tyr Pro Ser 
            420                 425                 430         


Ala Tyr Ile Lys Val Phe Asp Leu Arg Gln Cys His Arg Gln Met Gln 
        435                 440                 445             


Gln Gln Ala Ala Thr Ala Gln Ala Ala Ala Ala Ala Gln Ala Ala Ala 
    450                 455                 460                 


Val Ala Gly Asn Ile Pro Gly Pro Gly Ser Val Gly Gly Ile Ala Pro 
465                 470                 475                 480 


Ala Ile Ser Leu Ser Ala Ala Ala Gly Ile Gly Val Asp Asp Leu Arg 
                485                 490                 495     


Arg Leu Cys Ile Leu Arg Met Ser Phe Val Lys Gly Trp Gly Pro Asp 
            500                 505                 510         


Tyr Pro Arg Gln Ser Ile Lys Glu Thr Pro Cys Trp Ile Glu Ile His 
        515                 520                 525             


Leu His Arg Ala Leu Gln Leu Leu Asp Glu Val Leu His Thr Met Pro 
    530                 535                 540                 


Ile Ala Asp Pro Gln Pro Leu Asp 
545                 550         


