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Informations
Fabry_CEP is a user-friendly web-application designed to help clinicians
C
hoose
E
ligible
P
atients for the therapy with pharmacological chaperones
Query Data
Mutation Position:
A1
T2
G3
C4
A5
G6
C7
T8
G9
A10
G11
G12
A13
A14
C15
C16
C17
A18
G19
A20
A21
C22
T23
A24
C25
A26
T27
C28
T29
G30
G31
G32
C33
T34
G35
C36
G37
C38
G39
C40
T41
T42
G43
C44
G45
C46
T47
T48
C49
G50
C51
T52
T53
C54
C55
T56
G57
G58
C59
C60
C61
T62
C63
G64
T65
T66
T67
C68
C69
T70
G71
G72
G73
A74
C75
A76
T77
C78
C79
C80
T81
G82
G83
G84
G85
C86
T87
A88
G89
A90
G91
C92
A93
C94
T95
G96
G97
A98
C99
A100
A101
T102
G103
G104
A105
T106
T107
G108
G109
C110
A111
A112
G113
G114
A115
C116
G117
C118
C119
T120
A121
C122
C123
A124
T125
G126
G127
G128
C129
T130
G131
G132
C133
T134
G135
C136
A137
C138
T139
G140
G141
G142
A143
G144
C145
G146
C147
T148
T149
C150
A151
T152
G153
T154
G155
C156
A157
A158
C159
C160
T161
T162
G163
A164
C165
T166
G167
C168
C169
A170
G171
G172
A173
A174
G175
A176
G177
C178
C179
A180
G181
A182
T183
T184
C185
C186
T187
G188
C189
A190
T191
C192
A193
G194
T195
G196
A197
G198
A199
A200
G201
C202
T203
C204
T205
T206
C207
A208
T209
G210
G211
A212
G213
A214
T215
G216
G217
C218
A219
G220
A221
G222
C223
T224
C225
A226
T227
G228
G229
T230
C231
T232
C233
A234
G235
A236
A237
G238
G239
C240
T241
G242
G243
A244
A245
G246
G247
A248
T249
G250
C251
A252
G253
G254
T255
T256
A257
T258
G259
A260
G261
T262
A263
C264
C265
T266
C267
T268
G269
C270
A271
T272
T273
G274
A275
T276
G277
A278
C279
T280
G281
T282
T283
G284
G285
A286
T287
G288
G289
C290
T291
C292
C293
C294
C295
A296
A297
A298
G299
A300
G301
A302
T303
T304
C305
A306
G307
A308
A309
G310
G311
C312
A313
G314
A315
C316
T317
T318
C319
A320
G321
G322
C323
A324
G325
A326
C327
C328
C329
T330
C331
A332
G333
C334
G335
C336
T337
T338
T339
C340
C341
T342
C343
A344
T345
G346
G347
G348
A349
T350
T351
C352
G353
C354
C355
A356
G357
C358
T359
A360
G361
C362
T363
A364
A365
T366
T367
A368
T369
G370
T371
T372
C373
A374
C375
A376
G377
C378
A379
A380
A381
G382
G383
A384
C385
T386
G387
A388
A389
G390
C391
T392
A393
G394
G395
G396
A397
T398
T399
T400
A401
T402
G403
C404
A405
G406
A407
T408
G409
T410
T411
G412
G413
A414
A415
A416
T417
A418
A419
A420
A421
C422
C423
T424
G425
C426
G427
C428
A429
G430
G431
C432
T433
T434
C435
C436
C437
T438
G439
G440
G441
A442
G443
T444
T445
T446
T447
G448
G449
A450
T451
A452
C453
T454
A455
C456
G457
A458
C459
A460
T461
T462
G463
A464
T465
G466
C467
C468
C469
A470
G471
A472
C473
C474
T475
T476
T477
G478
C479
T480
G481
A482
C483
T484
G485
G486
G487
G488
A489
G490
T491
A492
G493
A494
T495
C496
T497
G498
C499
T500
A501
A502
A503
A504
T505
T506
T507
G508
A509
T510
G511
G512
T513
T514
G515
T516
T517
A518
C519
T520
G521
T522
G523
A524
C525
A526
G527
T528
T529
T530
G531
G532
A533
A534
A535
A536
T537
T538
T539
G540
G541
C542
A543
G544
A545
T546
G547
G548
T549
T550
A551
T552
A553
A554
G555
C556
A557
C558
A559
T560
G561
T562
C563
C564
T565
T566
G567
G568
C569
C570
C571
T572
G573
A574
A575
T576
A577
G578
G579
A580
C581
T582
G583
G584
C585
A586
G587
A588
A589
G590
C591
A592
T593
T594
G595
T596
G597
T598
A599
C600
T601
C602
C603
T604
G605
T606
G607
A608
G609
T610
G611
G612
C613
C614
T615
C616
T617
T618
T619
A620
T621
A622
T623
G624
T625
G626
G627
C628
C629
C630
T631
T632
T633
C634
A635
A636
A637
A638
G639
C640
C641
C642
A643
A644
T645
T646
A647
T648
A649
C650
A651
G652
A653
A654
A655
T656
C657
C658
G659
A660
C661
A662
G663
T664
A665
C666
T667
G668
C669
A670
A671
T672
C673
A674
C675
T676
G677
G678
C679
G680
A681
A682
A683
T684
T685
T686
T687
G688
C689
T690
G691
A692
C693
A694
T695
T696
G697
A698
T699
G700
A701
T702
T703
C704
C705
T706
G707
G708
A709
A710
A711
A712
G713
T714
A715
T716
A717
A718
A719
G720
A721
G722
T723
A724
T725
C726
T727
T728
G729
G730
A731
C732
T733
G734
G735
A736
C737
A738
T739
C740
T741
T742
T743
T744
A745
A746
C747
C748
A749
G750
G751
A752
G753
A754
G755
A756
A757
T758
T759
G760
T761
T762
G763
A764
T765
G766
T767
T768
G769
C770
T771
G772
G773
A774
C775
C776
A777
G778
G779
G780
G781
G782
T783
T784
G785
G786
A787
A788
T789
G790
A791
C792
C793
C794
A795
G796
A797
T798
A799
T800
G801
T802
T803
A804
G805
T806
G807
A808
T809
T810
G811
G812
C813
A814
A815
C816
T817
T818
T819
G820
G821
C822
C823
T824
C825
A826
G827
C828
T829
G830
G831
A832
A833
T834
C835
A836
G837
C838
A839
A840
G841
T842
A843
A844
C845
T846
C847
A848
G849
A850
T851
G852
G853
C854
C855
C856
T857
C858
T859
G860
G861
G862
C863
T864
A865
T866
C867
A868
T869
G870
G871
C872
T873
G874
C875
T876
C877
C878
T879
T880
T881
A882
T883
T884
C885
A886
T887
G888
T889
C890
T891
A892
A893
T894
G895
A896
C897
C898
T899
C900
C901
G902
A903
C904
A905
C906
A907
T908
C909
A910
G911
C912
C913
C914
T915
C916
A917
A918
G919
C920
C921
A922
A923
A924
G925
C926
T927
C928
T929
C930
C931
T932
T933
C934
A935
G936
G937
A938
T939
A940
A941
G942
G943
A944
C945
G946
T947
A948
A949
T950
T951
G952
C953
C954
A955
T956
C957
A958
A959
T960
C961
A962
G963
G964
A965
C966
C967
C968
C969
T970
T971
G972
G973
G974
C975
A976
A977
G978
C979
A980
A981
G982
G983
G984
T985
A986
C987
C988
A989
G990
C991
T992
T993
A994
G995
A996
C997
A998
G999
G1000
G1001
A1002
G1003
A1004
C1005
A1006
A1007
C1008
T1009
T1010
T1011
G1012
A1013
A1014
G1015
T1016
G1017
T1018
G1019
G1020
G1021
A1022
A1023
C1024
G1025
A1026
C1027
C1028
T1029
C1030
T1031
C1032
T1033
C1034
A1035
G1036
G1037
C1038
T1039
T1040
A1041
G1042
C1043
C1044
T1045
G1046
G1047
G1048
C1049
T1050
G1051
T1052
A1053
G1054
C1055
T1056
A1057
T1058
G1059
A1060
T1061
A1062
A1063
A1064
C1065
C1066
G1067
G1068
C1069
A1070
G1071
G1072
A1073
G1074
A1075
T1076
T1077
G1078
G1079
T1080
G1081
G1082
A1083
C1084
C1085
T1086
C1087
G1088
C1089
T1090
C1091
T1092
T1093
A1094
T1095
A1096
C1097
C1098
A1099
T1100
C1101
G1102
C1103
A1104
G1105
T1106
T1107
G1108
C1109
T1110
T1111
C1112
C1113
C1114
T1115
G1116
G1117
G1118
T1119
A1120
A1121
A1122
G1123
G1124
A1125
G1126
T1127
G1128
G1129
C1130
C1131
T1132
G1133
T1134
A1135
A1136
T1137
C1138
C1139
T1140
G1141
C1142
C1143
T1144
G1145
C1146
T1147
T1148
C1149
A1150
T1151
C1152
A1153
C1154
A1155
C1156
A1157
G1158
C1159
T1160
C1161
C1162
T1163
C1164
C1165
C1166
T1167
G1168
T1169
G1170
A1171
A1172
A1173
A1174
G1175
G1176
A1177
A1178
G1179
C1180
T1181
A1182
G1183
G1184
G1185
T1186
T1187
C1188
T1189
A1190
T1191
G1192
A1193
A1194
T1195
G1196
G1197
A1198
C1199
T1200
T1201
C1202
A1203
A1204
G1205
G1206
T1207
T1208
A1209
A1210
G1211
A1212
A1213
G1214
T1215
C1216
A1217
C1218
A1219
T1220
A1221
A1222
A1223
T1224
C1225
C1226
C1227
A1228
C1229
A1230
G1231
G1232
C1233
A1234
C1235
T1236
G1237
T1238
T1239
T1240
T1241
G1242
C1243
T1244
T1245
C1246
A1247
G1248
C1249
T1250
A1251
G1252
A1253
A1254
A1255
A1256
T1257
A1258
C1259
A1260
A1261
T1262
G1263
C1264
A1265
G1266
A1267
T1268
G1269
T1270
C1271
A1272
T1273
T1274
A1275
A1276
A1277
A1278
G1279
A1280
C1281
T1282
T1283
A1284
C1285
T1286
T1287
Substitute Nucleotide:
A
T
C
G
Start
Mutation Position:
M1
Q2
L3
R4
N5
P6
E7
L8
H9
L10
G11
C12
A13
L14
A15
L16
R17
F18
L19
A20
L21
V22
S23
W24
D25
I26
P27
G28
A29
R30
A31
L32
D33
N34
G35
L36
A37
R38
T39
P40
T41
M42
G43
W44
L45
H46
W47
E48
R49
F50
M51
C52
N53
L54
D55
C56
Q57
E58
E59
P60
D61
S62
C63
I64
S65
E66
K67
L68
F69
M70
E71
M72
A73
E74
L75
M76
V77
S78
E79
G80
W81
K82
D83
A84
G85
Y86
E87
Y88
L89
C90
I91
D92
D93
C94
W95
M96
A97
P98
Q99
R100
D101
S102
E103
G104
R105
L106
Q107
A108
D109
P110
Q111
R112
F113
P114
H115
G116
I117
R118
Q119
L120
A121
N122
Y123
V124
H125
S126
K127
G128
L129
K130
L131
G132
I133
Y134
A135
D136
V137
G138
N139
K140
T141
C142
A143
G144
F145
P146
G147
S148
F149
G150
Y151
Y152
D153
I154
D155
A156
Q157
T158
F159
A160
D161
W162
G163
V164
D165
L166
L167
K168
F169
D170
G171
C172
Y173
C174
D175
S176
L177
E178
N179
L180
A181
D182
G183
Y184
K185
H186
M187
S188
L189
A190
L191
N192
R193
T194
G195
R196
S197
I198
V199
Y200
S201
C202
E203
W204
P205
L206
Y207
M208
W209
P210
F211
Q212
K213
P214
N215
Y216
T217
E218
I219
R220
Q221
Y222
C223
N224
H225
W226
R227
N228
F229
A230
D231
I232
D233
D234
S235
W236
K237
S238
I239
K240
S241
I242
L243
D244
W245
T246
S247
F248
N249
Q250
E251
R252
I253
V254
D255
V256
A257
G258
P259
G260
G261
W262
N263
D264
P265
D266
M267
L268
V269
I270
G271
N272
F273
G274
L275
S276
W277
N278
Q279
Q280
V281
T282
Q283
M284
A285
L286
W287
A288
I289
M290
A291
A292
P293
L294
F295
M296
S297
N298
D299
L300
R301
H302
I303
S304
P305
Q306
A307
K308
A309
L310
L311
Q312
D313
K314
D315
V316
I317
A318
I319
N320
Q321
D322
P323
L324
G325
K326
Q327
G328
Y329
Q330
L331
R332
Q333
G334
D335
N336
F337
E338
V339
W340
E341
R342
P343
L344
S345
G346
L347
A348
W349
A350
V351
A352
M353
I354
N355
R356
Q357
E358
I359
G360
G361
P362
R363
S364
Y365
T366
I367
A368
V369
A370
S371
L372
G373
K374
G375
V376
A377
C378
N379
P380
A381
C382
F383
I384
T385
Q386
L387
L388
P389
V390
K391
R392
K393
L394
G395
F396
Y397
E398
W399
T400
S401
R402
L403
R404
S405
H406
I407
N408
P409
T410
G411
T412
V413
L414
L415
Q416
L417
E418
N419
T420
M421
Q422
M423
S424
L425
K426
D427
L428
L429
Substitute Amino Acid:
A
C
D
E
F
G
H
I
K
L
M
N
P
Q
R
S
T
V
W
Y
Start
__________________
Data Analysis
Mutation
Tested
Disruption of a Disulphide Bridge
Occurrence in the Active Site
PSSM score
-
-
Conclusion
Please cite us:
Cammisa et al. 2013,
Andreotti et al. 2011,
Andreotti et al. 2010
Contacts:
cubellis@unina.it
(please indicate "Fabry_CEP" in the object of the mail). Last updated on 25/10/2016.
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