                         SEQUENCE LISTING

<110>   Bae, Jong-Sup
       Rezaie, Alireza R.
 
<120>  METHODS FOR TREATING INFLAMMATION

<130>  SLU01-009-PCT

<140>  US61/526,082
<141>  2011-08-22

<160>  5     

<170>  PatentIn version 3.5

<210>  1
<211>  1920
<212>  DNA
<213>  Homo sapiens


<220>
<221>  exon
<222>  (1)..(1869)

<220>
<221>  misc_feature
<222>  (198)..(198)
<223>  Residue "Arg" in position 198 is a mutation

<220>
<221>  misc_feature
<222>  (314)..(314)
<223>  Residue "Arg" in position 314 is a mutation

<220>
<221>  misc_feature
<222>  (327)..(327)
<223>  Residue "Arg" in position 327 is a mutation

<400>  1
atg gcc cgc atc cga ggc ttg cag ctg cct ggc tgc ctg gcc ctg gct         48
Met Ala Arg Ile Arg Gly Leu Gln Leu Pro Gly Cys Leu Ala Leu Ala           
1               5                   10                  15                

gcc ctg tgt agc ctt gtg cac agc cag cat gtg ttc ctg gct cct cag         96
Ala Leu Cys Ser Leu Val His Ser Gln His Val Phe Leu Ala Pro Gln           
            20                  25                  30                    

caa gca cgg tcg ctg ctc cag cgg gtc cgg cga gcc aac acc ttc ttg        144
Gln Ala Arg Ser Leu Leu Gln Arg Val Arg Arg Ala Asn Thr Phe Leu           
        35                  40                  45                        

gag gag gtg cgc aag ggc aac cta gag cga gag tgc gtg gag gag acg        192
Glu Glu Val Arg Lys Gly Asn Leu Glu Arg Glu Cys Val Glu Glu Thr           
    50                  55                  60                            

tgc agc tac gag gag gcc ttc gag gct ctg gag tcc tcc acg gct acg        240
Cys Ser Tyr Glu Glu Ala Phe Glu Ala Leu Glu Ser Ser Thr Ala Thr           
65                  70                  75                  80            

gat gtg ttc tgg gcc aag tac aca gct tgt gag aca gcg agg acg cct        288
Asp Val Phe Trp Ala Lys Tyr Thr Ala Cys Glu Thr Ala Arg Thr Pro           
                85                  90                  95                

cga gat aag ctt gct gca tgt ctg gaa ggt aac tgt gct gag ggt ctg        336
Arg Asp Lys Leu Ala Ala Cys Leu Glu Gly Asn Cys Ala Glu Gly Leu           
            100                 105                 110                   

ggt acg aac tac cga ggg cat gtg aac atc acc cgg tca ggc att gag        384
Gly Thr Asn Tyr Arg Gly His Val Asn Ile Thr Arg Ser Gly Ile Glu           
        115                 120                 125                       

tgc cag cta tgg agg agt cgc tac cca cat aag cct gaa atc aac tcc        432
Cys Gln Leu Trp Arg Ser Arg Tyr Pro His Lys Pro Glu Ile Asn Ser           
    130                 135                 140                           

act acc cat cct ggg gcc gac cta cag gag aat ttc tgc cgc aac ccc        480
Thr Thr His Pro Gly Ala Asp Leu Gln Glu Asn Phe Cys Arg Asn Pro           
145                 150                 155                 160           

gac agc agc aac acg gga ccc tgg tgc tac act aca gac ccc acc gtg        528
Asp Ser Ser Asn Thr Gly Pro Trp Cys Tyr Thr Thr Asp Pro Thr Val           
                165                 170                 175               

agg agg cag gaa tgc agc atc cct gtc tgt ggc cag gat caa gtc act        576
Arg Arg Gln Glu Cys Ser Ile Pro Val Cys Gly Gln Asp Gln Val Thr           
            180                 185                 190                   

gta gcg atg act cca cgc tcc gaa ggc tcc agt gtg aat ctg tca cct        624
Val Ala Met Thr Pro Arg Ser Glu Gly Ser Ser Val Asn Leu Ser Pro           
        195                 200                 205                       

cca ttg gag cag tgt gtc cct gat cgg ggg cag cag tac cag ggg cgc        672
Pro Leu Glu Gln Cys Val Pro Asp Arg Gly Gln Gln Tyr Gln Gly Arg           
    210                 215                 220                           

ctg gcg gtg acc aca cat ggg ctc ccc tgc ctg gcc tgg gcc agc gca        720
Leu Ala Val Thr Thr His Gly Leu Pro Cys Leu Ala Trp Ala Ser Ala           
225                 230                 235                 240           

cag gcc aag gcc ctg agc aag cac cag gac ttc aac tca gct gtg cag        768
Gln Ala Lys Ala Leu Ser Lys His Gln Asp Phe Asn Ser Ala Val Gln           
                245                 250                 255               

ctg gtg gag aac ttc tgc cgc aac cca gac ggg gat gag gag ggc gtg        816
Leu Val Glu Asn Phe Cys Arg Asn Pro Asp Gly Asp Glu Glu Gly Val           
            260                 265                 270                   

tgg tgc tat gtg gcc ggg aag cct ggc gac ttt ggg tac tgc gac ctc        864
Trp Cys Tyr Val Ala Gly Lys Pro Gly Asp Phe Gly Tyr Cys Asp Leu           
        275                 280                 285                       

aac tat tgt gag gag gcc gtg gag gag gag aca gga gat ggg ctg gat        912
Asn Tyr Cys Glu Glu Ala Val Glu Glu Glu Thr Gly Asp Gly Leu Asp           
    290                 295                 300                           

gag gac tca gac agg gcc atc gaa ggg cgt acc gcc aca agt gag tac        960
Glu Asp Ser Asp Arg Ala Ile Glu Gly Arg Thr Ala Thr Ser Glu Tyr           
305                 310                 315                 320           

cag act ttc ttc aat ccg agg acc ttt ggc tcg gga gag gca gac tgt       1008
Gln Thr Phe Phe Asn Pro Arg Thr Phe Gly Ser Gly Glu Ala Asp Cys           
                325                 330                 335               

ggg ctg cga cct ctg ttc gag aag aag tcg ctg gag gac aaa acc gaa       1056
Gly Leu Arg Pro Leu Phe Glu Lys Lys Ser Leu Glu Asp Lys Thr Glu           
            340                 345                 350                   

aga gag ctc ctg gaa tcc tac atc gac ggg cgc att gtg gag ggc tcg       1104
Arg Glu Leu Leu Glu Ser Tyr Ile Asp Gly Arg Ile Val Glu Gly Ser           
        355                 360                 365                       

gat gca gag atc ggc atg tca cct tgg cag gtg atg ctt ttc cgg aag       1152
Asp Ala Glu Ile Gly Met Ser Pro Trp Gln Val Met Leu Phe Arg Lys           
    370                 375                 380                           

agt ccc cag gag ctg ctg tgt ggg gcc agc ctc atc agt gac cgc tgg       1200
Ser Pro Gln Glu Leu Leu Cys Gly Ala Ser Leu Ile Ser Asp Arg Trp           
385                 390                 395                 400           

gtc ctc acc gcc gcc cac tgc ctc ctg tac ccg ccc tgg gac aag aac       1248
Val Leu Thr Ala Ala His Cys Leu Leu Tyr Pro Pro Trp Asp Lys Asn           
                405                 410                 415               

ttc acc gag aat gac ctt ctg gtg cgc att ggc aag cac tcc cgc acc       1296
Phe Thr Glu Asn Asp Leu Leu Val Arg Ile Gly Lys His Ser Arg Thr           
            420                 425                 430                   

agg tac gag cga aac att gaa aag ata tcc atg ttg gaa aag atc tac       1344
Arg Tyr Glu Arg Asn Ile Glu Lys Ile Ser Met Leu Glu Lys Ile Tyr           
        435                 440                 445                       

atc cac ccc agg tac aac tgg cgg gag aac ctg gac cgg gac att gcc       1392
Ile His Pro Arg Tyr Asn Trp Arg Glu Asn Leu Asp Arg Asp Ile Ala           
    450                 455                 460                           

ctg atg aag ctg aag aag cct gtt gcc ttc agt gac tac att cac cct       1440
Leu Met Lys Leu Lys Lys Pro Val Ala Phe Ser Asp Tyr Ile His Pro           
465                 470                 475                 480           

gtg tgt ctg ccc gac agg gag acg gca gcc agc ttg ctc cag gct gga       1488
Val Cys Leu Pro Asp Arg Glu Thr Ala Ala Ser Leu Leu Gln Ala Gly           
                485                 490                 495               

tac aag ggg cgg gtg aca ggc tgg ggc aac ctg aag gag acg tgg aca       1536
Tyr Lys Gly Arg Val Thr Gly Trp Gly Asn Leu Lys Glu Thr Trp Thr           
            500                 505                 510                   

gcc aac gtt ggt aag ggg cag ccc agt gtc ctg cag gtg gtg aac ctg       1584
Ala Asn Val Gly Lys Gly Gln Pro Ser Val Leu Gln Val Val Asn Leu           
        515                 520                 525                       

ccc att gtg gag cgg ccg gtc tgc aag gac tcc acc cgg atc cgc atc       1632
Pro Ile Val Glu Arg Pro Val Cys Lys Asp Ser Thr Arg Ile Arg Ile           
    530                 535                 540                           

act gac aac atg ttc tgt gct ggt tac aag cct gat gaa ggg aaa cga       1680
Thr Asp Asn Met Phe Cys Ala Gly Tyr Lys Pro Asp Glu Gly Lys Arg           
545                 550                 555                 560           

ggg gat gcc tgt gaa ggt gac agt ggg gga ccc ttt gtc atg aag agc       1728
Gly Asp Ala Cys Glu Gly Asp Ser Gly Gly Pro Phe Val Met Lys Ser           
                565                 570                 575               

ccc ttt aac aac cgc tgg tat caa atg ggc atc gtc tca tgg ggt gaa       1776
Pro Phe Asn Asn Arg Trp Tyr Gln Met Gly Ile Val Ser Trp Gly Glu           
            580                 585                 590                   

ggc tgt gac cgg gat ggg aaa tat ggc ttc tac aca cat gtg ttc cgc       1824
Gly Cys Asp Arg Asp Gly Lys Tyr Gly Phe Tyr Thr His Val Phe Arg           
        595                 600                 605                       

ctg aag aag tgg ata cag aag gtc att gat cag ttt gga gag tag           1869
Leu Lys Lys Trp Ile Gln Lys Val Ile Asp Gln Phe Gly Glu                   
    610                 615                 620                           

ggggccactc atattctggg ctcctggaac caatcccgtg aaagaattat t              1920


<210>  2
<211>  1500
<212>  DNA
<213>  Homo sapiens


<220>
<221>  exon
<222>  (74)..(1456)

<400>  2
gctgtcatgg cggcaggacg gcgaacttgc agtatctcca cgacccgccc ctacaggtgc       60

cagtgcctcc aga atg tgg cag ctc aca agc ctc ctg ctg ttc gtg gcc         109
               Met Trp Gln Leu Thr Ser Leu Leu Leu Phe Val Ala            
               1               5                   10                     

acc tgg gga att tcc ggc aca cca gct cct ctt gac tca gtg ttc tcc        157
Thr Trp Gly Ile Ser Gly Thr Pro Ala Pro Leu Asp Ser Val Phe Ser           
        15                  20                  25                        

agc agc gag cgt gcc cac cag gtg ctg cgg atc cgc aaa cgt gcc aac        205
Ser Ser Glu Arg Ala His Gln Val Leu Arg Ile Arg Lys Arg Ala Asn           
    30                  35                  40                            

tcc ttc ctg gag gag ctc cgt cac agc agc ctg gag cgg gag tgc ata        253
Ser Phe Leu Glu Glu Leu Arg His Ser Ser Leu Glu Arg Glu Cys Ile           
45                  50                  55                  60            

gag gag atc tgt gac ttc gag gag gcc aag gaa att ttc caa aat gtg        301
Glu Glu Ile Cys Asp Phe Glu Glu Ala Lys Glu Ile Phe Gln Asn Val           
                65                  70                  75                

gat gac aca ctg gcc ttc tgg tcc aag cac gtc gac ggt gac cag tgc        349
Asp Asp Thr Leu Ala Phe Trp Ser Lys His Val Asp Gly Asp Gln Cys           
            80                  85                  90                    

ttg gtc ttg ccc ttg gag cac ccg tgc gcc agc ctg tgc tgc ggg cac        397
Leu Val Leu Pro Leu Glu His Pro Cys Ala Ser Leu Cys Cys Gly His           
        95                  100                 105                       

ggc acg tgc atc gac ggc atc ggc agc ttc agc tgc gac tgc cgc agc        445
Gly Thr Cys Ile Asp Gly Ile Gly Ser Phe Ser Cys Asp Cys Arg Ser           
    110                 115                 120                           

ggc tgg gag ggc cgc ttc tgc cag cgc gag gtg agc ttc ctc aat tgc        493
Gly Trp Glu Gly Arg Phe Cys Gln Arg Glu Val Ser Phe Leu Asn Cys           
125                 130                 135                 140           

tcg ctg gac aac ggc ggc tgc acg cat tac tgc cta gag gag gtg ggc        541
Ser Leu Asp Asn Gly Gly Cys Thr His Tyr Cys Leu Glu Glu Val Gly           
                145                 150                 155               

tgg cgg cgc tgt agc tgt gcg cct ggc tac aag ctg ggg gac gac ctc        589
Trp Arg Arg Cys Ser Cys Ala Pro Gly Tyr Lys Leu Gly Asp Asp Leu           
            160                 165                 170                   

ctg cag tgt cac ccc gca gtg aag ttc cct tgt ggg agg ccc tgg aag        637
Leu Gln Cys His Pro Ala Val Lys Phe Pro Cys Gly Arg Pro Trp Lys           
        175                 180                 185                       

cgg atg gag aag aag cgc agt cac ctg aaa cga gac aca gaa gac caa        685
Arg Met Glu Lys Lys Arg Ser His Leu Lys Arg Asp Thr Glu Asp Gln           
    190                 195                 200                           

gaa gac caa gta gat ccg cgg ctc att gat ggg aag atg acc agg cgg        733
Glu Asp Gln Val Asp Pro Arg Leu Ile Asp Gly Lys Met Thr Arg Arg           
205                 210                 215                 220           

gga gac agc ccc tgg cag gtg gtc ctg ctg gac tca aag aag aag ctg        781
Gly Asp Ser Pro Trp Gln Val Val Leu Leu Asp Ser Lys Lys Lys Leu           
                225                 230                 235               

gcc tgc ggg gca gtg ctc atc cac ccc tcc tgg gtg ctg aca gcg gcc        829
Ala Cys Gly Ala Val Leu Ile His Pro Ser Trp Val Leu Thr Ala Ala           
            240                 245                 250                   

cac tgc atg gat gag tcc aag aag ctc ctt gtc agg ctt gga gag tat        877
His Cys Met Asp Glu Ser Lys Lys Leu Leu Val Arg Leu Gly Glu Tyr           
        255                 260                 265                       

gac ctg cgg cgc tgg gag aag tgg gag ctg gac ctg gac atc aag gag        925
Asp Leu Arg Arg Trp Glu Lys Trp Glu Leu Asp Leu Asp Ile Lys Glu           
    270                 275                 280                           

gtc ttc gtc cac ccc aac tac agc aag agc acc acc gac aat gac atc        973
Val Phe Val His Pro Asn Tyr Ser Lys Ser Thr Thr Asp Asn Asp Ile           
285                 290                 295                 300           

gca ctg ctg cac ctg gcc cag ccc gcc acc ctc tcg cag acc ata gtg       1021
Ala Leu Leu His Leu Ala Gln Pro Ala Thr Leu Ser Gln Thr Ile Val           
                305                 310                 315               

ccc atc tgc ctc ccg gac agc ggc ctt gca gag cgc gag ctc aat cag       1069
Pro Ile Cys Leu Pro Asp Ser Gly Leu Ala Glu Arg Glu Leu Asn Gln           
            320                 325                 330                   

gcc ggc cag gag acc ctc gtg acg ggc tgg ggc tac cac agc agc cga       1117
Ala Gly Gln Glu Thr Leu Val Thr Gly Trp Gly Tyr His Ser Ser Arg           
        335                 340                 345                       

gag aag gag gcc aag aga aac cgc acc ttc gtc ctc aac ttc atc aag       1165
Glu Lys Glu Ala Lys Arg Asn Arg Thr Phe Val Leu Asn Phe Ile Lys           
    350                 355                 360                           

att ccc gtg gtc ccg cac aat gag tgc agc gag gtc atg agc aac atg       1213
Ile Pro Val Val Pro His Asn Glu Cys Ser Glu Val Met Ser Asn Met           
365                 370                 375                 380           

gtg tct gag aac atg ctg tgt gcg ggc atc ctc ggg gac cgg cag gat       1261
Val Ser Glu Asn Met Leu Cys Ala Gly Ile Leu Gly Asp Arg Gln Asp           
                385                 390                 395               

gcc tgc gag ggc gac agt ggg ggg ccc atg gtc gcc tcc ttc cac ggc       1309
Ala Cys Glu Gly Asp Ser Gly Gly Pro Met Val Ala Ser Phe His Gly           
            400                 405                 410                   

acc tgg ttc ctg gtg ggc ctg gtg agc tgg ggt gag ggc tgt ggg ctc       1357
Thr Trp Phe Leu Val Gly Leu Val Ser Trp Gly Glu Gly Cys Gly Leu           
        415                 420                 425                       

ctt cac aac tac ggc gtt tac acc aaa gtc agc cgc tac ctc gac tgg       1405
Leu His Asn Tyr Gly Val Tyr Thr Lys Val Ser Arg Tyr Leu Asp Trp           
    430                 435                 440                           

atc cat ggg cac atc aga gac aag gaa gcc ccc cag aag agc tgg gca       1453
Ile His Gly His Ile Arg Asp Lys Glu Ala Pro Gln Lys Ser Trp Ala           
445                 450                 455                 460           

cct tagcgaccct ccctgcaggg ctgggctttt gcatggcaat ggat                  1500
Pro                                                                       
                                                                          


<210>  3
<211>  1656
<212>  DNA
<213>  Homo sapiens


<220>
<221>  exon
<222>  (1)..(1602)

<220>
<221>  misc_feature
<222>  (110)..(110)
<223>  Residue "Arg" in position 110 is a mutation

<220>
<221>  misc_feature
<222>  (226)..(226)
<223>  Residue "Arg" in position 226  is a mutation

<220>
<221>  misc_feature
<222>  (239)..(239)
<223>  Residue "Arg" in position 239  is a mutation

<400>  3
gct tgt gag aca gcg agg acg cct cga gat aag ctt gct gca tgt ctg         48
Ala Cys Glu Thr Ala Arg Thr Pro Arg Asp Lys Leu Ala Ala Cys Leu           
1               5                   10                  15                

gaa ggt aac tgt gct gag ggt ctg ggt acg aac tac cga ggg cat gtg         96
Glu Gly Asn Cys Ala Glu Gly Leu Gly Thr Asn Tyr Arg Gly His Val           
            20                  25                  30                    

aac atc acc cgg tca ggc att gag tgc cag cta tgg agg agt cgc tac        144
Asn Ile Thr Arg Ser Gly Ile Glu Cys Gln Leu Trp Arg Ser Arg Tyr           
        35                  40                  45                        

cca cat aag cct gaa atc aac tcc act acc cat cct ggg gcc gac cta        192
Pro His Lys Pro Glu Ile Asn Ser Thr Thr His Pro Gly Ala Asp Leu           
    50                  55                  60                            

cag gag aat ttc tgc cgc aac ccc gac agc agc aac acg gga ccc tgg        240
Gln Glu Asn Phe Cys Arg Asn Pro Asp Ser Ser Asn Thr Gly Pro Trp           
65                  70                  75                  80            

tgc tac act aca gac ccc acc gtg agg agg cag gaa tgc agc atc cct        288
Cys Tyr Thr Thr Asp Pro Thr Val Arg Arg Gln Glu Cys Ser Ile Pro           
                85                  90                  95                

gtc tgt ggc cag gat caa gtc act gta gcg atg act cca cgc tcc gaa        336
Val Cys Gly Gln Asp Gln Val Thr Val Ala Met Thr Pro Arg Ser Glu           
            100                 105                 110                   

ggc tcc agt gtg aat ctg tca cct cca ttg gag cag tgt gtc cct gat        384
Gly Ser Ser Val Asn Leu Ser Pro Pro Leu Glu Gln Cys Val Pro Asp           
        115                 120                 125                       

cgg ggg cag cag tac cag ggg cgc ctg gcg gtg acc aca cat ggg ctc        432
Arg Gly Gln Gln Tyr Gln Gly Arg Leu Ala Val Thr Thr His Gly Leu           
    130                 135                 140                           

ccc tgc ctg gcc tgg gcc agc gca cag gcc aag gcc ctg agc aag cac        480
Pro Cys Leu Ala Trp Ala Ser Ala Gln Ala Lys Ala Leu Ser Lys His           
145                 150                 155                 160           

cag gac ttc aac tca gct gtg cag ctg gtg gag aac ttc tgc cgc aac        528
Gln Asp Phe Asn Ser Ala Val Gln Leu Val Glu Asn Phe Cys Arg Asn           
                165                 170                 175               

cca gac ggg gat gag gag ggc gtg tgg tgc tat gtg gcc ggg aag cct        576
Pro Asp Gly Asp Glu Glu Gly Val Trp Cys Tyr Val Ala Gly Lys Pro           
            180                 185                 190                   

ggc gac ttt ggg tac tgc gac ctc aac tat tgt gag gag gcc gtg gag        624
Gly Asp Phe Gly Tyr Cys Asp Leu Asn Tyr Cys Glu Glu Ala Val Glu           
        195                 200                 205                       

gag gag aca gga gat ggg ctg gat gag gac tca gac agg gcc atc gaa        672
Glu Glu Thr Gly Asp Gly Leu Asp Glu Asp Ser Asp Arg Ala Ile Glu           
    210                 215                 220                           

ggg cgt acc gcc aca agt gag tac cag act ttc ttc aat ccg agg acc        720
Gly Arg Thr Ala Thr Ser Glu Tyr Gln Thr Phe Phe Asn Pro Arg Thr           
225                 230                 235                 240           

ttt ggc tcg gga gag gca gac tgt ggg ctg cga cct ctg ttc gag aag        768
Phe Gly Ser Gly Glu Ala Asp Cys Gly Leu Arg Pro Leu Phe Glu Lys           
                245                 250                 255               

aag tcg ctg gag gac aaa acc gaa aga gag ctc ctg gaa tcc tac atc        816
Lys Ser Leu Glu Asp Lys Thr Glu Arg Glu Leu Leu Glu Ser Tyr Ile           
            260                 265                 270                   

gac ggg cgc att gtg gag ggc tcg gat gca gag atc ggc atg tca cct        864
Asp Gly Arg Ile Val Glu Gly Ser Asp Ala Glu Ile Gly Met Ser Pro           
        275                 280                 285                       

tgg cag gtg atg ctt ttc cgg aag agt ccc cag gag ctg ctg tgt ggg        912
Trp Gln Val Met Leu Phe Arg Lys Ser Pro Gln Glu Leu Leu Cys Gly           
    290                 295                 300                           

gcc agc ctc atc agt gac cgc tgg gtc ctc acc gcc gcc cac tgc ctc        960
Ala Ser Leu Ile Ser Asp Arg Trp Val Leu Thr Ala Ala His Cys Leu           
305                 310                 315                 320           

ctg tac ccg ccc tgg gac aag aac ttc acc gag aat gac ctt ctg gtg       1008
Leu Tyr Pro Pro Trp Asp Lys Asn Phe Thr Glu Asn Asp Leu Leu Val           
                325                 330                 335               

cgc att ggc aag cac tcc cgc acc agg tac gag cga aac att gaa aag       1056
Arg Ile Gly Lys His Ser Arg Thr Arg Tyr Glu Arg Asn Ile Glu Lys           
            340                 345                 350                   

ata tcc atg ttg gaa aag atc tac atc cac ccc agg tac aac tgg cgg       1104
Ile Ser Met Leu Glu Lys Ile Tyr Ile His Pro Arg Tyr Asn Trp Arg           
        355                 360                 365                       

gag aac ctg gac cgg gac att gcc ctg atg aag ctg aag aag cct gtt       1152
Glu Asn Leu Asp Arg Asp Ile Ala Leu Met Lys Leu Lys Lys Pro Val           
    370                 375                 380                           

gcc ttc agt gac tac att cac cct gtg tgt ctg ccc gac agg gag acg       1200
Ala Phe Ser Asp Tyr Ile His Pro Val Cys Leu Pro Asp Arg Glu Thr           
385                 390                 395                 400           

gca gcc agc ttg ctc cag gct gga tac aag ggg cgg gtg aca ggc tgg       1248
Ala Ala Ser Leu Leu Gln Ala Gly Tyr Lys Gly Arg Val Thr Gly Trp           
                405                 410                 415               

ggc aac ctg aag gag acg tgg aca gcc aac gtt ggt aag ggg cag ccc       1296
Gly Asn Leu Lys Glu Thr Trp Thr Ala Asn Val Gly Lys Gly Gln Pro           
            420                 425                 430                   

agt gtc ctg cag gtg gtg aac ctg ccc att gtg gag cgg ccg gtc tgc       1344
Ser Val Leu Gln Val Val Asn Leu Pro Ile Val Glu Arg Pro Val Cys           
        435                 440                 445                       

aag gac tcc acc cgg atc cgc atc act gac aac atg ttc tgt gct ggt       1392
Lys Asp Ser Thr Arg Ile Arg Ile Thr Asp Asn Met Phe Cys Ala Gly           
    450                 455                 460                           

tac aag cct gat gaa ggg aaa cga ggg gat gcc tgt gaa ggt gac agt       1440
Tyr Lys Pro Asp Glu Gly Lys Arg Gly Asp Ala Cys Glu Gly Asp Ser           
465                 470                 475                 480           

ggg gga ccc ttt gtc atg aag agc ccc ttt aac aac cgc tgg tat caa       1488
Gly Gly Pro Phe Val Met Lys Ser Pro Phe Asn Asn Arg Trp Tyr Gln           
                485                 490                 495               

atg ggc atc gtc tca tgg ggt gaa ggc tgt gac cgg gat ggg aaa tat       1536
Met Gly Ile Val Ser Trp Gly Glu Gly Cys Asp Arg Asp Gly Lys Tyr           
            500                 505                 510                   

ggc ttc tac aca cat gtg ttc cgc ctg aag aag tgg ata cag aag gtc       1584
Gly Phe Tyr Thr His Val Phe Arg Leu Lys Lys Trp Ile Gln Lys Val           
        515                 520                 525                       

att gat cag ttt gga gag tagggggcca ctcatattct gggctcctgg              1632
Ile Asp Gln Phe Gly Glu                                                   
    530                                                                   

aaccaatccc gtgaaagaat tatt                                            1656


<210>  4
<211>  261
<212>  DNA
<213>  Homo sapiens


<220>
<221>  exon
<222>  (1)..(261)

<400>  4
atg tgg cag ctc aca agc ctc ctg ctg ttc gtg gcc acc tgg gga att         48
Met Trp Gln Leu Thr Ser Leu Leu Leu Phe Val Ala Thr Trp Gly Ile           
1               5                   10                  15                

tcc ggc aca cca gct cct ctt gac tca gtg ttc tcc agc agc gag cgt         96
Ser Gly Thr Pro Ala Pro Leu Asp Ser Val Phe Ser Ser Ser Glu Arg           
            20                  25                  30                    

gcc cac cag gtg ctg cgg atc cgc aaa cgt gcc aac tcc ttc ctg gag        144
Ala His Gln Val Leu Arg Ile Arg Lys Arg Ala Asn Ser Phe Leu Glu           
        35                  40                  45                        

gag ctc cgt cac agc agc ctg gag cgg gag tgc ata gag gag atc tgt        192
Glu Leu Arg His Ser Ser Leu Glu Arg Glu Cys Ile Glu Glu Ile Cys           
    50                  55                  60                            

gac ttc gag gag gcc aag gaa att ttc caa aat gtg gat gac aca ctg        240
Asp Phe Glu Glu Ala Lys Glu Ile Phe Gln Asn Val Asp Asp Thr Leu           
65                  70                  75                  80            

gcc ttc tgg tcc aag cac gtc                                            261
Ala Phe Trp Ser Lys His Val                                               
                85                                                        


<210>  5
<211>  1917
<212>  DNA
<213>  Homo sapiens


<220>
<221>  exon
<222>  (1)..(1863)

<220>
<221>  misc_feature
<222>  (197)..(197)
<223>  Residue "Ala" in position 197 is a mutation

<220>
<221>  misc_feature
<222>  (313)..(313)
<223>  Residue "Ala" in position 313 is a mutation

<220>
<221>  misc_feature
<222>  (326)..(326)
<223>  Residue "Ala" in position 326 is a mutation

<400>  5
atg tgg cag ctc aca agc ctc ctg ctg ttc gtg gcc acc tgg gga att         48
Met Trp Gln Leu Thr Ser Leu Leu Leu Phe Val Ala Thr Trp Gly Ile           
1               5                   10                  15                

tcc ggc aca cca gct cct ctt gac tca gtg ttc tcc agc agc gag cgt         96
Ser Gly Thr Pro Ala Pro Leu Asp Ser Val Phe Ser Ser Ser Glu Arg           
            20                  25                  30                    

gcc cac cag gtg ctg cgg atc cgc aaa cgt gcc aac tcc ttc ctg gag        144
Ala His Gln Val Leu Arg Ile Arg Lys Arg Ala Asn Ser Phe Leu Glu           
        35                  40                  45                        

gag ctc cgt cac agc agc ctg gag cgg gag tgc ata gag gag atc tgt        192
Glu Leu Arg His Ser Ser Leu Glu Arg Glu Cys Ile Glu Glu Ile Cys           
    50                  55                  60                            

gac ttc gag gag gcc aag gaa att ttc caa aat gtg gat gac aca ctg        240
Asp Phe Glu Glu Ala Lys Glu Ile Phe Gln Asn Val Asp Asp Thr Leu           
65                  70                  75                  80            

gcc ttc tgg tcc aag cac gtc gct tgt gag aca gcg agg acg cct cga        288
Ala Phe Trp Ser Lys His Val Ala Cys Glu Thr Ala Arg Thr Pro Arg           
                85                  90                  95                

gat aag ctt gct gca tgt ctg gaa ggt aac tgt gct gag ggt ctg ggt        336
Asp Lys Leu Ala Ala Cys Leu Glu Gly Asn Cys Ala Glu Gly Leu Gly           
            100                 105                 110                   

acg aac tac cga ggg cat gtg aac atc acc cgg tca ggc att gag tgc        384
Thr Asn Tyr Arg Gly His Val Asn Ile Thr Arg Ser Gly Ile Glu Cys           
        115                 120                 125                       

cag cta tgg agg agt cgc tac cca cat aag cct gaa atc aac tcc act        432
Gln Leu Trp Arg Ser Arg Tyr Pro His Lys Pro Glu Ile Asn Ser Thr           
    130                 135                 140                           

acc cat cct ggg gcc gac cta cag gag aat ttc tgc cgc aac ccc gac        480
Thr His Pro Gly Ala Asp Leu Gln Glu Asn Phe Cys Arg Asn Pro Asp           
145                 150                 155                 160           

agc agc aac acg gga ccc tgg tgc tac act aca gac ccc acc gtg agg        528
Ser Ser Asn Thr Gly Pro Trp Cys Tyr Thr Thr Asp Pro Thr Val Arg           
                165                 170                 175               

agg cag gaa tgc agc atc cct gtc tgt ggc cag gat caa gtc act gta        576
Arg Gln Glu Cys Ser Ile Pro Val Cys Gly Gln Asp Gln Val Thr Val           
            180                 185                 190                   

gcg atg act cca gct tcc gaa ggc tcc agt gtg aat ctg tca cct cca        624
Ala Met Thr Pro Ala Ser Glu Gly Ser Ser Val Asn Leu Ser Pro Pro           
        195                 200                 205                       

ttg gag cag tgt gtc cct gat cgg ggg cag cag tac cag ggg cgc ctg        672
Leu Glu Gln Cys Val Pro Asp Arg Gly Gln Gln Tyr Gln Gly Arg Leu           
    210                 215                 220                           

gcg gtg acc aca cat ggg ctc ccc tgc ctg gcc tgg gcc agc gca cag        720
Ala Val Thr Thr His Gly Leu Pro Cys Leu Ala Trp Ala Ser Ala Gln           
225                 230                 235                 240           

gcc aag gcc ctg agc aag cac cag gac ttc aac tca gct gtg cag ctg        768
Ala Lys Ala Leu Ser Lys His Gln Asp Phe Asn Ser Ala Val Gln Leu           
                245                 250                 255               

gtg gag aac ttc tgc cgc aac cca gac ggg gat gag gag ggc gtg tgg        816
Val Glu Asn Phe Cys Arg Asn Pro Asp Gly Asp Glu Glu Gly Val Trp           
            260                 265                 270                   

tgc tat gtg gcc ggg aag cct ggc gac ttt ggg tac tgc gac ctc aac        864
Cys Tyr Val Ala Gly Lys Pro Gly Asp Phe Gly Tyr Cys Asp Leu Asn           
        275                 280                 285                       

tat tgt gag gag gcc gtg gag gag gag aca gga gat ggg ctg gat gag        912
Tyr Cys Glu Glu Ala Val Glu Glu Glu Thr Gly Asp Gly Leu Asp Glu           
    290                 295                 300                           

gac tca gac agg gcc atc gaa ggg gct acc gcc aca agt gag tac cag        960
Asp Ser Asp Arg Ala Ile Glu Gly Ala Thr Ala Thr Ser Glu Tyr Gln           
305                 310                 315                 320           

act ttc ttc aat ccg gct acc ttt ggc tcg gga gag gca gac tgt ggg       1008
Thr Phe Phe Asn Pro Ala Thr Phe Gly Ser Gly Glu Ala Asp Cys Gly           
                325                 330                 335               

ctg cga cct ctg ttc gag aag aag tcg ctg gag gac aaa acc gaa aga       1056
Leu Arg Pro Leu Phe Glu Lys Lys Ser Leu Glu Asp Lys Thr Glu Arg           
            340                 345                 350                   

gag ctc ctg gaa tcc tac atc gac ggg cgc att gtg gag ggc tcg gat       1104
Glu Leu Leu Glu Ser Tyr Ile Asp Gly Arg Ile Val Glu Gly Ser Asp           
        355                 360                 365                       

gca gag atc ggc atg tca cct tgg cag gtg atg ctt ttc cgg aag agt       1152
Ala Glu Ile Gly Met Ser Pro Trp Gln Val Met Leu Phe Arg Lys Ser           
    370                 375                 380                           

ccc cag gag ctg ctg tgt ggg gcc agc ctc atc agt gac cgc tgg gtc       1200
Pro Gln Glu Leu Leu Cys Gly Ala Ser Leu Ile Ser Asp Arg Trp Val           
385                 390                 395                 400           

ctc acc gcc gcc cac tgc ctc ctg tac ccg ccc tgg gac aag aac ttc       1248
Leu Thr Ala Ala His Cys Leu Leu Tyr Pro Pro Trp Asp Lys Asn Phe           
                405                 410                 415               

acc gag aat gac ctt ctg gtg cgc att ggc aag cac tcc cgc acc agg       1296
Thr Glu Asn Asp Leu Leu Val Arg Ile Gly Lys His Ser Arg Thr Arg           
            420                 425                 430                   

tac gag cga aac att gaa aag ata tcc atg ttg gaa aag atc tac atc       1344
Tyr Glu Arg Asn Ile Glu Lys Ile Ser Met Leu Glu Lys Ile Tyr Ile           
        435                 440                 445                       

cac ccc agg tac aac tgg cgg gag aac ctg gac cgg gac att gcc ctg       1392
His Pro Arg Tyr Asn Trp Arg Glu Asn Leu Asp Arg Asp Ile Ala Leu           
    450                 455                 460                           

atg aag ctg aag aag cct gtt gcc ttc agt gac tac att cac cct gtg       1440
Met Lys Leu Lys Lys Pro Val Ala Phe Ser Asp Tyr Ile His Pro Val           
465                 470                 475                 480           

tgt ctg ccc gac agg gag acg gca gcc agc ttg ctc cag gct gga tac       1488
Cys Leu Pro Asp Arg Glu Thr Ala Ala Ser Leu Leu Gln Ala Gly Tyr           
                485                 490                 495               

aag ggg cgg gtg aca ggc tgg ggc aac ctg aag gag acg tgg aca gcc       1536
Lys Gly Arg Val Thr Gly Trp Gly Asn Leu Lys Glu Thr Trp Thr Ala           
            500                 505                 510                   

aac gtt ggt aag ggg cag ccc agt gtc ctg cag gtg gtg aac ctg ccc       1584
Asn Val Gly Lys Gly Gln Pro Ser Val Leu Gln Val Val Asn Leu Pro           
        515                 520                 525                       

att gtg gag cgg ccg gtc tgc aag gac tcc acc cgg atc cgc atc act       1632
Ile Val Glu Arg Pro Val Cys Lys Asp Ser Thr Arg Ile Arg Ile Thr           
    530                 535                 540                           

gac aac atg ttc tgt gct ggt tac aag cct gat gaa ggg aaa cga ggg       1680
Asp Asn Met Phe Cys Ala Gly Tyr Lys Pro Asp Glu Gly Lys Arg Gly           
545                 550                 555                 560           

gat gcc tgt gaa ggt gac agt ggg gga ccc ttt gtc atg aag agc ccc       1728
Asp Ala Cys Glu Gly Asp Ser Gly Gly Pro Phe Val Met Lys Ser Pro           
                565                 570                 575               

ttt aac aac cgc tgg tat caa atg ggc atc gtc tca tgg ggt gaa ggc       1776
Phe Asn Asn Arg Trp Tyr Gln Met Gly Ile Val Ser Trp Gly Glu Gly           
            580                 585                 590                   

tgt gac cgg gat ggg aaa tat ggc ttc tac aca cat gtg ttc cgc ctg       1824
Cys Asp Arg Asp Gly Lys Tyr Gly Phe Tyr Thr His Val Phe Arg Leu           
        595                 600                 605                       

aag aag tgg ata cag aag gtc att gat cag ttt gga gag tagggggcca        1873
Lys Lys Trp Ile Gln Lys Val Ile Asp Gln Phe Gly Glu                       
    610                 615                 620                           

ctcatattct gggctcctgg aaccaatccc gtgaaagaat tatt                      1917


