                         SEQUENCE LISTING

<110>  Amsterdam Molecular Therapeutics (AMT) IP B.V.
 
<120>  Alanine-glyoxylate aminotransferase therapeutics

<130>  P6022296PCT

<150>  EP09151795.3
<151>  2009-01-30

<160>  8     

<170>  PatentIn version 3.3

<210>  1
<211>  1179
<212>  DNA
<213>  Homo sapiens


<220>
<221>  misc_feature
<223>  human AGXT I340M allele (rs4426527)

<220>
<221>  CDS
<222>  (1)..(1179)

<400>  1
atg gcc tct cac aag ctg ctg gtg acc ccc ccc aag gcc ctg ctc aag       48
Met Ala Ser His Lys Leu Leu Val Thr Pro Pro Lys Ala Leu Leu Lys         
1               5                   10                  15              

ccc ctc tcc atc ccc aac cag ctc ctg ctg ggg cct ggt cct tcc aac       96
Pro Leu Ser Ile Pro Asn Gln Leu Leu Leu Gly Pro Gly Pro Ser Asn         
            20                  25                  30                  

ctg cct cct cgc atc atg gca gcc ggg ggg ctg cag atg atc ggg tcc      144
Leu Pro Pro Arg Ile Met Ala Ala Gly Gly Leu Gln Met Ile Gly Ser         
        35                  40                  45                      

atg agc aag gat atg tac cag atc atg gac gag atc aag gaa ggc atc      192
Met Ser Lys Asp Met Tyr Gln Ile Met Asp Glu Ile Lys Glu Gly Ile         
    50                  55                  60                          

cag tac gtg ttc cag acc agg aac cca ctc aca ctg gtc atc tcc ggc      240
Gln Tyr Val Phe Gln Thr Arg Asn Pro Leu Thr Leu Val Ile Ser Gly         
65                  70                  75                  80          

tcg gga cac tgt gcc ctg gag gcc gcc ctg gtc aat gtg ctg gag cct      288
Ser Gly His Cys Ala Leu Glu Ala Ala Leu Val Asn Val Leu Glu Pro         
                85                  90                  95              

ggg gac tcc ttc ctg gtt ggg gcc aat ggc att tgg ggg cag cga gcc      336
Gly Asp Ser Phe Leu Val Gly Ala Asn Gly Ile Trp Gly Gln Arg Ala         
            100                 105                 110                 

gtg gac atc ggg gag cgc ata gga gcc cga gtg cac ccg atg acc aag      384
Val Asp Ile Gly Glu Arg Ile Gly Ala Arg Val His Pro Met Thr Lys         
        115                 120                 125                     

gac ccc gga ggc cac tac aca ctg cag gag gtg gag gag ggc ctg gcc      432
Asp Pro Gly Gly His Tyr Thr Leu Gln Glu Val Glu Glu Gly Leu Ala         
    130                 135                 140                         

cag cac aag cca gtg ctg ctg ttc tta acc cac ggg gag tcg tcc acc      480
Gln His Lys Pro Val Leu Leu Phe Leu Thr His Gly Glu Ser Ser Thr         
145                 150                 155                 160         

ggc gtg ctg cag ccc ctt gat ggc ttc ggg gaa ctc tgc cac agg tac      528
Gly Val Leu Gln Pro Leu Asp Gly Phe Gly Glu Leu Cys His Arg Tyr         
                165                 170                 175             

aag tgc ctg ctc ctg gtg gat tcg gtg gca tcc ctg ggc ggg acc ccc      576
Lys Cys Leu Leu Leu Val Asp Ser Val Ala Ser Leu Gly Gly Thr Pro         
            180                 185                 190                 

ctt tac atg gac cgg caa ggc atc gac atc ctg tac tcg ggc tcc cag      624
Leu Tyr Met Asp Arg Gln Gly Ile Asp Ile Leu Tyr Ser Gly Ser Gln         
        195                 200                 205                     

aag gcc ctg aac gcc cct cca ggg acc tcg ctc atc tcc ttc agt gac      672
Lys Ala Leu Asn Ala Pro Pro Gly Thr Ser Leu Ile Ser Phe Ser Asp         
    210                 215                 220                         

aag gcc aaa aag aag atg tac tcc cgc aag acg aag ccc ttc tcc ttc      720
Lys Ala Lys Lys Lys Met Tyr Ser Arg Lys Thr Lys Pro Phe Ser Phe         
225                 230                 235                 240         

tac ctg gac atc aag tgg ctg gcc aac ttc tgg ggc tgt gac gac cag      768
Tyr Leu Asp Ile Lys Trp Leu Ala Asn Phe Trp Gly Cys Asp Asp Gln         
                245                 250                 255             

ccc agg atg tac cat cac aca atc ccc gtc atc agc ctg tac agc ctg      816
Pro Arg Met Tyr His His Thr Ile Pro Val Ile Ser Leu Tyr Ser Leu         
            260                 265                 270                 

aga gag agc ctg gcc ctc att gcg gaa cag ggc ctg gag aac agc tgg      864
Arg Glu Ser Leu Ala Leu Ile Ala Glu Gln Gly Leu Glu Asn Ser Trp         
        275                 280                 285                     

cgc cag cac cgc gag gcc gcg gcg tat ctg cat ggg cgc ctg cag gca      912
Arg Gln His Arg Glu Ala Ala Ala Tyr Leu His Gly Arg Leu Gln Ala         
    290                 295                 300                         

ctg ggg ctg cag ctc ttc gtg aag gac ccg gcg ctc cgg ctt ccc aca      960
Leu Gly Leu Gln Leu Phe Val Lys Asp Pro Ala Leu Arg Leu Pro Thr         
305                 310                 315                 320         

gtc acc act gtg gct gta ccc gct ggc tat gac tgg aga gac atc gtc     1008
Val Thr Thr Val Ala Val Pro Ala Gly Tyr Asp Trp Arg Asp Ile Val         
                325                 330                 335             

agc tac gtc atg gac cac ttc gac att gag atc atg ggt ggc ctt ggg     1056
Ser Tyr Val Met Asp His Phe Asp Ile Glu Ile Met Gly Gly Leu Gly         
            340                 345                 350                 

ccc tcc acg ggg aag gtg ctg cgg atc ggc ctg ctg ggc tgc aat gcc     1104
Pro Ser Thr Gly Lys Val Leu Arg Ile Gly Leu Leu Gly Cys Asn Ala         
        355                 360                 365                     

acc cgc gag aat gtg gac cgc gtg acg gag gcc ctg agg gcg gcc ctg     1152
Thr Arg Glu Asn Val Asp Arg Val Thr Glu Ala Leu Arg Ala Ala Leu         
    370                 375                 380                         

cag cac tgc ccc aag aag aag ctg tga                                 1179
Gln His Cys Pro Lys Lys Lys Leu                                         
385                 390                                                 


<210>  2
<211>  392
<212>  PRT
<213>  Homo sapiens

<400>  2

Met Ala Ser His Lys Leu Leu Val Thr Pro Pro Lys Ala Leu Leu Lys 
1               5                   10                  15      


Pro Leu Ser Ile Pro Asn Gln Leu Leu Leu Gly Pro Gly Pro Ser Asn 
            20                  25                  30          


Leu Pro Pro Arg Ile Met Ala Ala Gly Gly Leu Gln Met Ile Gly Ser 
        35                  40                  45              


Met Ser Lys Asp Met Tyr Gln Ile Met Asp Glu Ile Lys Glu Gly Ile 
    50                  55                  60                  


Gln Tyr Val Phe Gln Thr Arg Asn Pro Leu Thr Leu Val Ile Ser Gly 
65                  70                  75                  80  


Ser Gly His Cys Ala Leu Glu Ala Ala Leu Val Asn Val Leu Glu Pro 
                85                  90                  95      


Gly Asp Ser Phe Leu Val Gly Ala Asn Gly Ile Trp Gly Gln Arg Ala 
            100                 105                 110         


Val Asp Ile Gly Glu Arg Ile Gly Ala Arg Val His Pro Met Thr Lys 
        115                 120                 125             


Asp Pro Gly Gly His Tyr Thr Leu Gln Glu Val Glu Glu Gly Leu Ala 
    130                 135                 140                 


Gln His Lys Pro Val Leu Leu Phe Leu Thr His Gly Glu Ser Ser Thr 
145                 150                 155                 160 


Gly Val Leu Gln Pro Leu Asp Gly Phe Gly Glu Leu Cys His Arg Tyr 
                165                 170                 175     


Lys Cys Leu Leu Leu Val Asp Ser Val Ala Ser Leu Gly Gly Thr Pro 
            180                 185                 190         


Leu Tyr Met Asp Arg Gln Gly Ile Asp Ile Leu Tyr Ser Gly Ser Gln 
        195                 200                 205             


Lys Ala Leu Asn Ala Pro Pro Gly Thr Ser Leu Ile Ser Phe Ser Asp 
    210                 215                 220                 


Lys Ala Lys Lys Lys Met Tyr Ser Arg Lys Thr Lys Pro Phe Ser Phe 
225                 230                 235                 240 


Tyr Leu Asp Ile Lys Trp Leu Ala Asn Phe Trp Gly Cys Asp Asp Gln 
                245                 250                 255     


Pro Arg Met Tyr His His Thr Ile Pro Val Ile Ser Leu Tyr Ser Leu 
            260                 265                 270         


Arg Glu Ser Leu Ala Leu Ile Ala Glu Gln Gly Leu Glu Asn Ser Trp 
        275                 280                 285             


Arg Gln His Arg Glu Ala Ala Ala Tyr Leu His Gly Arg Leu Gln Ala 
    290                 295                 300                 


Leu Gly Leu Gln Leu Phe Val Lys Asp Pro Ala Leu Arg Leu Pro Thr 
305                 310                 315                 320 


Val Thr Thr Val Ala Val Pro Ala Gly Tyr Asp Trp Arg Asp Ile Val 
                325                 330                 335     


Ser Tyr Val Met Asp His Phe Asp Ile Glu Ile Met Gly Gly Leu Gly 
            340                 345                 350         


Pro Ser Thr Gly Lys Val Leu Arg Ile Gly Leu Leu Gly Cys Asn Ala 
        355                 360                 365             


Thr Arg Glu Asn Val Asp Arg Val Thr Glu Ala Leu Arg Ala Ala Leu 
    370                 375                 380                 


Gln His Cys Pro Lys Lys Lys Leu 
385                 390         


<210>  3
<211>  673
<212>  DNA
<213>  Artificial

<220>
<223>  Human AAT promoter combined with the mouse albumin gene enhancer 
       (Ealb) element

<400>  3
tcgaggttcc tagattacac tacacattct gcaagcatag cacagagcaa tgttctactt     60

taattacttt cattttcttg tatcctcaca gcctagaaaa taacctgcgt tacagcatcc    120

actcagtatc ccttgagcat gaggtgacac tacttaacat agggacgaga tggtactttg    180

tgtctcctgc tctgtcagca gggcacagta cttgctgata ccagggaatg tttgttctta    240

aataccatca ttccggacgt gtttgccttg gccagttttc catgtacatg cagaaagaag    300

tttggactga tcaatacagt cctctgcctt taaagcaata ggaaaaggcc aacttgtcta    360

cgtttagtat gtggctgtag atctgtaccc gccaccccct ccaccttgga cacaggacgc    420

tgtggtttct gagccaggta caatgactcc tttcggtaag tgcagtggaa gctgtacact    480

gcccaggcaa agcgtccggg cagcgtaggc gggcgactca gatcccagcc agtggactta    540

gcccctgttt gctcctccga taactggggt gaccttggtt aatattcacc agcagcctcc    600

cccgttgccc ctctggatcc actgcttaaa tacggacgag gacagggccc tgtctcctca    660

gcttcaggca cca                                                       673


<210>  4
<211>  96
<212>  DNA
<213>  Homo sapiens

<400>  4
tccgtcgacc cgggcggccg atcgctagcc tttgaatgta accaatccta ctaataaacc     60

agttctgaag gtgttgtgtg tgcgcgtgtg gagttg                               96


<210>  5
<211>  66
<212>  DNA
<213>  Artificial

<220>
<223>  Synthetic polyA Insulator

<400>  5
aattcaataa agagctctta ttttcattct cgaggtgtgg ttggttttct tgtgtggggg     60

cggatc                                                                66


<210>  6
<211>  10
<212>  RNA
<213>  Artificial

<220>
<223>  Kozak consensus sequence

<400>  6
gccrccaugg                                                            10


<210>  7
<211>  145
<212>  DNA
<213>  adeno-associated virus 2

<400>  7
ttggccactc cctctctgcg cgctcgctcg ctcactgagg ccgggcgacc aaaggtcgcc     60

cgacgcccgg gctttgcccg ggcggcctca gtgagcgagc gagcgcgcag agagggagtg    120

gccaactcca tcactagggg ttcct                                          145


<210>  8
<211>  146
<212>  DNA
<213>  adeno-associated virus 2

<400>  8
ttggccactc cctctctgcg cgctcgctcg ctcactgagg ccgcccgggc aaagcccggg     60

cgtcgggcga cctttggtcg cccggcctca gtgagcgagc gagcgcgcag agagggagtg    120

gccaactcca tcactagggg ttcccc                                         146


