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Results for the Protein: P35555
311033452

FBN1_HUMAN RecName: Full=Fibrillin-1; Flags: Precursor

Known Diseases associated with this Protein:
  ACROMICRIC DYSPLASIA (ACMICD)
  ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT (ECTOL1)
  GELEOPHYSIC DYSPLASIA 2 (GPHYSD2)
  MARFAN SYNDROME (MFS)
  SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (SGS)
  STIFF SKIN SYNDROME (SSKS)
248
24
0
0
272
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

TB - pfam00683
EGF_CA - smart00179
EGF_CA - cd00054
EGF_CA - pfam07645
EGF - cd00053
EGF - smart00181
EGF - pfam00008


Swiss-Prot Protein: P35555
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
EGFcd000536.6e-10249287
EGF_CAcd000541.8e-15288329
EGFcd000536.5e-11291329
EGF_CAcd000544.3e-06449489
EGFcd000530.00064452489
EGF_CAcd000541.8e-12490529
EGFcd000539.1e-08493529
EGF_CAcd000542.6e-16530571
EGFcd000539.5e-11533571
EGF_CAcd000543.4e-16572612
EGFcd000533.2e-13575612
EGF_CAcd000544.8e-14613653
EGFcd000538e-10616653
EGF_CAcd000541.1e-14723764
EGFcd000531.7e-10726764
EGF_CAcd000542.6e-15765806
EGFcd000537.9e-13768806
EGF_CAcd000543.2e-12807846
EGFcd000531.6e-08810846
EGF_CAcd000549.3e-17910951
EGFcd000536.7e-12913951
EGF_CAcd000541.5e-1510281069
EGFcd000539.5e-1110311069
EGF_CAcd000545.1e-1110701112
EGFcd000534.2e-0710731112
EGF_CAcd000541e-1511131154
EGFcd000531.3e-0911161154
EGF_CAcd000543.5e-1511551196
EGFcd000534.9e-1011581196
EGF_CAcd000541.2e-1111971237
EGFcd000535.3e-0912001237
EGF_CAcd000544.2e-1412381279
EGFcd000531.5e-1012411279
EGF_CAcd000546.9e-1312801321
EGFcd000534.9e-1012831321
EGF_CAcd000545.7e-1613221362
EGFcd000538.1e-1113251362
EGF_CAcd000542.5e-1513631403
EGFcd000531.8e-1113661403
EGF_CAcd000545.5e-1514041445
EGFcd000538.5e-1214071445
EGF_CAcd000541.4e-1314461486
EGFcd000531.6e-0814491486
EGF_CAcd000545.6e-1314871527
EGFcd000532.4e-0814901527
EGF_CAcd000541.5e-1616061647
EGFcd000532.9e-1116091647
EGF_CAcd000542e-1116481688
EGFcd000538.6e-0916511688
EGF_CAcd000546.2e-1417661807
EGFcd000531.4e-0917691807
EGF_CAcd000541.6e-1318081848
EGFcd000538.3e-0918111848
EGF_CAcd000541.8e-1318491890
EGFcd000538.5e-1118521890
EGF_CAcd000546.9e-1218911929
EGFcd000533.6e-0818941929
EGF_CAcd000541.9e-1819301972
EGFcd000539.4e-1319331972
EGF_CAcd000545.8e-1519732012
EGFcd000533.2e-1119762012
EGF_CAcd000542.6e-1620132054
EGFcd000534.2e-1120162054
EGF_CAcd000541.1e-1421272165
EGFcd000533.7e-1121302165
EGF_CAcd000541.2e-1221662205
EGFcd000534.7e-1021692205
EGF_CAcd000549.8e-1522062246
EGFcd000532.9e-1022092246
EGF_CAcd000541e-0822472290
EGFcd000531.6e-0622502290
EGF_CAcd000541.6e-1222912332
EGFcd000532.4e-0922942332
EGF_CAcd000545.9e-1324022443
EGFcd000532.5e-0924052443
EGF_CAcd000543.2e-1424442484
EGFcd000532.8e-1024472484
EGF_CAcd000543.8e-1324852523
EGFcd000537.4e-1024882523
EGF_CAcd000541.5e-1325242566
EGFcd000532.7e-1025272566
EGF_CAcd000541.6e-0925672606
EGFcd000532e-0525702606
EGF_CAcd000544.2e-1326072647
EGFcd000534.2e-0826102647
EGF_CAcd000544.2e-0826482687
EGFcd000530.0001626512687
TBpfam006837.9e-19193235
TBpfam006832.3e-20343388
EGFpfam000084.5e-05494525
EGFpfam000082.2e-06534569
EGFpfam000081.5e-08576610
EGFpfam000081.2e-05617651
TBpfam006838.6e-21668710
EGFpfam000084.7e-06727762
EGFpfam000088.8e-05769802
TBpfam006837.3e-15860901
EGFpfam000087e-06914949
TBpfam006832.8e-199651007
EGFpfam000080.0007510321067
EGFpfam000080.0004511591192
EGFpfam000080.0001712421277
EGFpfam000089.7e-0712841315
EGFpfam000086.4e-0513261358
EGFpfam000080.0001413671399
EGFpfam000084.2e-0614081443
TBpfam006835.8e-2115471588
EGFpfam000085.7e-0516101643
TBpfam006832.9e-2017041747
EGFpfam000082.9e-0517701803
EGFpfam000082.7e-0619341970
EGFpfam000080.0006419772008
EGFpfam000082.9e-0520172052
TBpfam006832.6e-1920682110
EGFpfam000080.0005421702203
TBpfam006834.2e-2123462389
EGFpfam000080.00124482482
EGFpfam000080.0003924892519
EGFpfam000082.2e-0525282564
EGF_CApfam076451e-10246286
EGF_CAsmart001791e-15246287
EGFsmart001812.2e-09249287
EGF_CApfam076451.4e-08288328
EGF_CAsmart001791.2e-15288329
EGFsmart001813.4e-11291329
EGF_CAsmart001790.00054451489
EGFsmart001810.00011452489
EGF_CApfam076454.1e-10490528
EGF_CAsmart001792.5e-12490529
EGFsmart001819.2e-07493529
EGF_CApfam076457.1e-11530570
EGF_CAsmart001799.4e-17530571
EGFsmart001818.1e-12533571
EGF_CApfam076454.5e-09572611
EGF_CAsmart001792.2e-17572612
EGFsmart001814.4e-13575612
EGF_CApfam076455.3e-10613652
EGF_CAsmart001791.4e-15613653
EGFsmart001813e-10616653
EGF_CApfam076451e-11723763
EGF_CAsmart001799e-16723764
EGFsmart001811.2e-10726764
EGF_CApfam076451.8e-07765805
EGF_CAsmart001795.1e-16765806
EGFsmart001814.5e-12768806
EGF_CAsmart001791.2e-12807846
EGFsmart001815.8e-08810846
EGF_CApfam076452.4e-08910950
EGF_CAsmart001793.5e-18910951
EGFsmart001811.9e-12913951
EGF_CApfam076454e-0810281068
EGF_CAsmart001791.6e-1610281069
EGFsmart001817e-1110311069
EGF_CApfam076454.6e-0610701111
EGF_CAsmart001792.6e-1210701112
EGFsmart001816.6e-0710731112
EGF_CApfam076456.3e-1011131153
EGF_CAsmart001791.5e-1511131154
EGFsmart001811.1e-0811161154
EGF_CApfam076455.4e-0911551195
EGF_CAsmart001794.5e-1611551196
EGFsmart001813.5e-1111581196
EGF_CApfam076455.3e-0611971236
EGF_CAsmart001795.7e-1311971237
EGFsmart001811.6e-0912001237
EGF_CApfam076459.8e-0812381278
EGF_CAsmart001793.1e-1412381279
EGFsmart001813.4e-1012411279
EGF_CApfam076454.1e-0812801320
EGF_CAsmart001794.1e-1212801321
EGFsmart001819.5e-0912831321
EGF_CApfam076459.9e-1513221361
EGF_CAsmart001791.5e-1513221362
EGFsmart001813.2e-1113251362
EGF_CApfam076452.9e-1513631402
EGF_CAsmart001798.1e-1613631403
EGFsmart001815.2e-1213661403
EGF_CApfam076459.1e-0914041444
EGF_CAsmart001798.7e-1614041445
EGFsmart001811.9e-1214071445
EGF_CApfam076454.9e-0614461485
EGF_CAsmart001791.2e-1414461486
EGFsmart001811.6e-0814491486
EGF_CApfam076457.4e-0514871526
EGF_CAsmart001792.9e-1314871527
EGFsmart001811e-0814901527
EGF_CApfam076453e-1116061646
EGF_CAsmart001791.3e-1616061647
EGFsmart001816e-1116091647
EGF_CApfam076451.5e-0516481687
EGF_CAsmart001791.7e-1216481688
EGFsmart001814.1e-0816511688
EGF_CApfam076451.3e-1017661806
EGF_CAsmart001799.5e-1517661807
EGFsmart001812.6e-1017691807
EGF_CApfam076453.8e-1418081847
EGF_CAsmart001794.3e-1418081848
EGFsmart001817.8e-0918111848
EGF_CApfam076451.4e-0618491889
EGF_CAsmart001791.2e-1418491890
EGFsmart001811.5e-1118521890
EGF_CApfam076451.2e-0518911928
EGF_CAsmart001792e-1218911929
EGFsmart001812.6e-0718941929
EGF_CApfam076459.9e-1419301971
EGF_CAsmart001791.2e-1919301972
EGFsmart001812.5e-1319331972
EGF_CApfam076452.2e-1219732011
EGF_CAsmart001791.3e-1519732012
EGFsmart001817e-1119762012
EGF_CApfam076458e-1220132053
EGF_CAsmart001792.4e-1720132054
EGFsmart001812.1e-1120162054
EGF_CApfam076452e-0821272164
EGF_CAsmart001791.4e-1521272165
EGFsmart001811e-1021302165
EGF_CApfam076451.3e-0621662204
EGF_CAsmart001791.9e-1221662205
EGFsmart001811.5e-0921692205
EGF_CApfam076454.3e-1122062245
EGF_CAsmart001793.9e-1622062246
EGFsmart001813.6e-1122092246
EGF_CApfam076452e-0822472289
EGF_CAsmart001792e-1022472290
EGFsmart001815.1e-0722502290
EGF_CApfam076452.6e-0622912331
EGF_CAsmart001798.4e-1422912332
EGFsmart001813e-1022942332
EGF_CApfam076452.9e-0824022442
EGF_CAsmart001792.9e-1424022443
EGFsmart001813.3e-0924052443
EGF_CApfam076451.7e-1224442483
EGF_CAsmart001792e-1424442484
EGFsmart001814.7e-1124472484
EGF_CApfam076457.4e-1424852522
EGF_CAsmart001796.8e-1524852523
EGFsmart001816.7e-1024882523
EGF_CApfam076450.0001925242565
EGF_CAsmart001793.4e-1425242566
EGFsmart001816.7e-1125272566
EGF_CApfam076456.7e-0725672605
EGF_CAsmart001794.7e-1225672606
EGFsmart001818.7e-0625702606
EGF_CApfam076458.7e-0826072646
EGF_CAsmart001791.5e-1226072647
EGFsmart001811.7e-0726102647
EGF_CApfam076454.9e-0826482686
EGF_CAsmart001796.4e-1026482687
EGFsmart001810.0001726512687

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018004Diseasep.ALA1337PROMarfan syndrome (MFS)
Swiss-ProtVAR_023900Diseasep.ALA2160PROMarfan syndrome (MFS)
Swiss-ProtVAR_066536Diseasep.ALA1728THRGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_023903Diseasep.ALA2385THRMarfan syndrome (MFS)
Swiss-ProtVAR_014663Polymorphismp.ALA27THRN/A
Swiss-ProtVAR_002289Diseasep.ALA705THRMarfan syndrome (MFS)
Swiss-ProtVAR_066537Diseasep.ALA1728VALGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_017969Diseasep.ARG114CYSMarfan syndrome (MFS)
Swiss-ProtVAR_002277Diseasep.ARG122CYSMarfan syndrome (MFS)
Swiss-ProtVAR_018012Polymorphismp.ARG1530CYSN/A
Swiss-ProtVAR_017972Diseasep.ARG240CYSMarfan syndrome (MFS)
Swiss-ProtVAR_002347Diseasep.ARG2680CYSMarfan syndrome (MFS)
Swiss-ProtVAR_002284Diseasep.ARG545CYSMarfan syndrome (MFS)
Swiss-ProtVAR_017967Diseasep.ARG62CYSMarfan syndrome (MFS)
Swiss-ProtVAR_002287Diseasep.ARG627CYSMarfan syndrome (MFS)
Swiss-ProtVAR_023863Diseasep.ARG439GLYMarfan syndrome (MFS)
Swiss-ProtVAR_002318Diseasep.ARG1170HISMarfan syndrome (MFS)
Swiss-ProtVAR_023869Diseasep.ARG636ILEMarfan syndrome (MFS)
Swiss-ProtVAR_002314Diseasep.ARG1137PROMarfan syndrome (MFS)
Swiss-ProtVAR_018016Diseasep.ARG1790PROMarfan syndrome (MFS)
Swiss-ProtVAR_018023Diseasep.ARG1915SERMarfan syndrome (MFS)
Swiss-ProtVAR_002340Diseasep.ARG2282TRPMarfan syndrome (MFS)
Swiss-ProtVAR_018034Diseasep.ARG2335TRPMarfan syndrome (MFS)
Swiss-ProtVAR_002348Diseasep.ARG2726TRPMarfan syndrome (MFS)
Swiss-ProtVAR_018032Diseasep.ASN2223HISMarfan syndrome (MFS)
Swiss-ProtVAR_002285Diseasep.ASN548ILEMarfan syndrome (MFS)
Swiss-ProtVAR_002320Diseasep.ASN1173LYSMarfan syndrome (MFS)
Swiss-ProtVAR_065999Diseasep.ASN1489LYSMarfan syndrome (MFS)
Swiss-ProtVAR_002331Diseasep.ASN1893LYSMarfan syndrome (MFS)
Swiss-ProtVAR_018042Diseasep.ASN2624LYSMarfan syndrome (MFS)
Swiss-ProtVAR_055728Polymorphismp.ASN1282SERN/A
Swiss-ProtVAR_002324Diseasep.ASN1382SERMarfan syndrome (MFS)
Swiss-ProtVAR_002336Diseasep.ASN2144SERMarfan syndrome (MFS)
Swiss-ProtVAR_002313Diseasep.ASN1131TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065998Diseasep.ASP1487ALAMarfan syndrome (MFS)
Swiss-ProtVAR_002291Diseasep.ASP723ALAMarfan syndrome (MFS)
Swiss-ProtVAR_002317Diseasep.ASP1155ASNMarfan syndrome (MFS)
Swiss-ProtVAR_066004Diseasep.ASP2166ASNMarfan syndrome (MFS)
Swiss-ProtVAR_017980Diseasep.ASP654ASNMarfan syndrome (MFS)
Swiss-ProtVAR_002335Diseasep.ASP2127GLUMarfan syndrome (MFS)
Swiss-ProtVAR_055735Polymorphismp.ASP2329GLUN/A
Swiss-ProtVAR_002306Diseasep.ASP1072GLYMarfan syndrome (MFS)
Swiss-ProtVAR_055727Polymorphismp.ASP1113GLYN/A
Swiss-ProtVAR_066006Diseasep.ASP2247GLYMarfan syndrome (MFS)
Swiss-ProtVAR_002325Diseasep.ASP1404TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002283Diseasep.ASP490TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023874Diseasep.ASP1113VALMarfan syndrome (MFS)
Swiss-ProtVAR_066541Diseasep.ASP1758VALAcromicric dysplasia (ACMICD)
Swiss-ProtVAR_017985Diseasep.ASP723VALMarfan syndrome (MFS)
Swiss-ProtVAR_002303Diseasep.CYS1053ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002308Diseasep.CYS1074ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002276Diseasep.CYS111ARGMarfan syndrome (MFS)
Swiss-ProtVAR_018320Diseasep.CYS1265ARGMarfan syndrome (MFS)
Swiss-ProtVAR_018008Diseasep.CYS1389ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023882Diseasep.CYS1402ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002326Diseasep.CYS1513ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002329Diseasep.CYS1663ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023861Diseasep.CYS177ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023890Diseasep.CYS1791ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023894Diseasep.CYS1895ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002332Diseasep.CYS1928ARGMarfan syndrome (MFS)
Swiss-ProtVAR_066003Diseasep.CYS1984ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023899Diseasep.CYS2085ARGMarfan syndrome (MFS)
Swiss-ProtVAR_018029Diseasep.CYS2111ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023862Diseasep.CYS224ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023902Diseasep.CYS2251ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002339Diseasep.CYS2258ARGMarfan syndrome (MFS)
Swiss-ProtVAR_066007Polymorphismp.CYS2318ARGN/A
Swiss-ProtVAR_002343Diseasep.CYS2489ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023904Diseasep.CYS2500ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002344Diseasep.CYS2511ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023909Diseasep.CYS2571ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023911Diseasep.CYS2605ARGMarfan syndrome (MFS)
Swiss-ProtVAR_066010Diseasep.CYS2646ARGMarfan syndrome (MFS)
Swiss-ProtVAR_065983Diseasep.CYS611ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002288Diseasep.CYS661ARGMarfan syndrome (MFS)
Swiss-ProtVAR_017983Diseasep.CYS683ARGMarfan syndrome (MFS)
Swiss-ProtVAR_017990Diseasep.CYS781ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002294Diseasep.CYS862ARGMarfan syndrome (MFS)
Swiss-ProtVAR_017992Diseasep.CYS890ARGMarfan syndrome (MFS)
Swiss-ProtVAR_017993Diseasep.CYS908ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002295Diseasep.CYS926ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002297Diseasep.CYS996ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002304Diseasep.CYS1055GLYMarfan syndrome (MFS)
Swiss-ProtVAR_064503Diseasep.CYS1068GLYMarfan syndrome (MFS)
Swiss-ProtVAR_002310Diseasep.CYS1117GLYMarfan syndrome (MFS)
Swiss-ProtVAR_023880Diseasep.CYS1284GLYMarfan syndrome (MFS)
Swiss-ProtVAR_064048Diseasep.CYS1577GLYStiff skin syndrome (SSKS)
Swiss-ProtVAR_002328Diseasep.CYS1610GLYMarfan syndrome (MFS)
Swiss-ProtVAR_023888Diseasep.CYS1631GLYMarfan syndrome (MFS)
Swiss-ProtVAR_023896Diseasep.CYS1928GLYMarfan syndrome (MFS)
Swiss-ProtVAR_018031Diseasep.CYS2221GLYMarfan syndrome (MFS)
Swiss-ProtVAR_018043Diseasep.CYS2652GLYMarfan syndrome (MFS)
Swiss-ProtVAR_002282Diseasep.CYS476GLYMarfan syndrome (MFS)
Swiss-ProtVAR_065984Diseasep.CYS617GLYMarfan syndrome (MFS)
Swiss-ProtVAR_002293Diseasep.CYS750GLYMarfan syndrome (MFS)
Swiss-ProtVAR_017988Diseasep.CYS776GLYMarfan syndrome (MFS)
Swiss-ProtVAR_065981Diseasep.CYS80GLYMarfan syndrome (MFS)
Swiss-ProtVAR_023872Diseasep.CYS890GLYMarfan syndrome (MFS)
Swiss-ProtVAR_017995Diseasep.CYS921GLYMarfan syndrome (MFS)
Swiss-ProtVAR_023866Diseasep.CYS628LYSMarfan syndrome (MFS)
Swiss-ProtVAR_065993Diseasep.CYS1350PHEMarfan syndrome (MFS)
Swiss-ProtVAR_023886Diseasep.CYS1564PHEMarfan syndrome (MFS)
Swiss-ProtVAR_002327Diseasep.CYS1589PHEMarfan syndrome (MFS)
Swiss-ProtVAR_002279Diseasep.CYS166PHEMarfan syndrome (MFS)
Swiss-ProtVAR_055729Polymorphismp.CYS1672PHEN/A
Swiss-ProtVAR_018015Diseasep.CYS1770PHEMarfan syndrome (MFS)
Swiss-ProtVAR_055731Polymorphismp.CYS2053PHEN/A
Swiss-ProtVAR_055733Polymorphismp.CYS2170PHEN/A
Swiss-ProtVAR_023901Diseasep.CYS2221PHEMarfan syndrome (MFS)
Swiss-ProtVAR_018039Diseasep.CYS2581PHEMarfan syndrome (MFS)
Swiss-ProtVAR_010776Diseasep.CYS504PHEMarfan syndrome (MFS)
Swiss-ProtVAR_017986Diseasep.CYS734PHEMarfan syndrome (MFS)
Swiss-ProtVAR_017968Diseasep.CYS89PHEMarfan syndrome (MFS)
Swiss-ProtVAR_023875Diseasep.CYS1153SERMarfan syndrome (MFS)
Swiss-ProtVAR_002323Diseasep.CYS1249SERMarfan syndrome (MFS)
Swiss-ProtVAR_023879Diseasep.CYS1278SERMarfan syndrome (MFS)
Swiss-ProtVAR_023881Diseasep.CYS1333SERMarfan syndrome (MFS)
Swiss-ProtVAR_018007Diseasep.CYS1374SERMarfan syndrome (MFS)
Swiss-ProtVAR_018011Diseasep.CYS1429SERMarfan syndrome (MFS)
Swiss-ProtVAR_017971Diseasep.CYS154SERMarfan syndrome (MFS)
Swiss-ProtVAR_064046Diseasep.CYS1564SERStiff skin syndrome (SSKS)
Swiss-ProtVAR_002280Diseasep.CYS166SERMarfan syndrome (MFS)
Swiss-ProtVAR_018020Diseasep.CYS1806SERMarfan syndrome (MFS)
Swiss-ProtVAR_010779Diseasep.CYS1833SERMarfan syndrome (MFS)
Swiss-ProtVAR_066001Diseasep.CYS1934SERMarfan syndrome (MFS)
Swiss-ProtVAR_002338Diseasep.CYS2221SERMarfan syndrome (MFS)
Swiss-ProtVAR_002341Diseasep.CYS2307SERMarfan syndrome (MFS)
Swiss-ProtVAR_066008Diseasep.CYS2442SERMarfan syndrome (MFS)
Swiss-ProtVAR_023910Diseasep.CYS2592SERMarfan syndrome (MFS)
Swiss-ProtVAR_023915Diseasep.CYS2663SERMarfan syndrome (MFS)
Swiss-ProtVAR_017979Diseasep.CYS652SERMarfan syndrome (MFS)
Swiss-ProtVAR_017991Diseasep.CYS816SERMarfan syndrome (MFS)
Swiss-ProtVAR_065988Diseasep.CYS853SERMarfan syndrome (MFS)
Swiss-ProtVAR_017998Diseasep.CYS1055TRPMarfan syndrome (MFS)
Swiss-ProtVAR_002309Diseasep.CYS1086TRPMarfan syndrome (MFS)
Swiss-ProtVAR_002319Diseasep.CYS1171TRPMarfan syndrome (MFS)
Swiss-ProtVAR_065995Diseasep.CYS1431TRPMarfan syndrome (MFS)
Swiss-ProtVAR_066533Diseasep.CYS1719TRPGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_018018Diseasep.CYS1793TRPMarfan syndrome (MFS)
Swiss-ProtVAR_002333Diseasep.CYS2099TRPMarfan syndrome (MFS)
Swiss-ProtVAR_002337Diseasep.CYS2151TRPMarfan syndrome (MFS)
Swiss-ProtVAR_018037Diseasep.CYS2442TRPMarfan syndrome (MFS)
Swiss-ProtVAR_023906Diseasep.CYS2535TRPMarfan syndrome (MFS)
Swiss-ProtVAR_017978Diseasep.CYS598TRPMarfan syndrome (MFS)
Swiss-ProtVAR_017984Diseasep.CYS685TRPMarfan syndrome (MFS)
Swiss-ProtVAR_017997Diseasep.CYS1044TYRMarfan syndrome (MFS)
Swiss-ProtVAR_017999Diseasep.CYS1055TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002311Diseasep.CYS1117TYRMarfan syndrome (MFS)
Swiss-ProtVAR_010777Diseasep.CYS1129TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002316Diseasep.CYS1153TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002321Diseasep.CYS1223TYRShprintzen-Goldberg craniosynostosis syndrome (SGS)
Swiss-ProtVAR_023860Diseasep.CYS123TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002322Diseasep.CYS1242TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065992Diseasep.CYS1284TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002278Diseasep.CYS129TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018005Diseasep.CYS1339TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065996Diseasep.CYS1431TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018013Diseasep.CYS1564TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023889Diseasep.CYS1663TYRMarfan syndrome (MFS)
Swiss-ProtVAR_066531Diseasep.CYS1706TYRGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_066538Diseasep.CYS1733TYRGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_018017Diseasep.CYS1791TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023891Diseasep.CYS1806TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018021Diseasep.CYS1835TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023892Diseasep.CYS1876TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023895Diseasep.CYS1900TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023897Diseasep.CYS1928TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018025Diseasep.CYS1971TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018026Diseasep.CYS1977TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018027Diseasep.CYS1998TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023898Diseasep.CYS2038TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002334Diseasep.CYS2111TYRMarfan syndrome (MFS)
Swiss-ProtVAR_010780Diseasep.CYS2142TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018035Diseasep.CYS2339TYREctopia lentis 1, isolated, autosomal dominant (ECTOL1)
Swiss-ProtVAR_018036Diseasep.CYS2406TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023905Diseasep.CYS2500TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023912Diseasep.CYS2605TYRMarfan syndrome (MFS)
Swiss-ProtVAR_058090Polymorphismp.CYS472TYRN/A
Swiss-ProtVAR_065982Diseasep.CYS499TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023865Diseasep.CYS541TYRMarfan syndrome (MFS)
Swiss-ProtVAR_017975Diseasep.CYS570TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002286Diseasep.CYS587TYRMarfan syndrome (MFS)
Swiss-ProtVAR_017977Diseasep.CYS596TYRMarfan syndrome (MFS)
Swiss-ProtVAR_017981Diseasep.CYS661TYREctopia lentis 1, isolated, autosomal dominant (ECTOL1)
Swiss-ProtVAR_065985Diseasep.CYS685TYRMarfan syndrome (MFS)
Swiss-ProtVAR_002290Diseasep.CYS711TYRMarfan syndrome (MFS)
Swiss-ProtVAR_017987Diseasep.CYS748TYRMarfan syndrome (MFS)
Swiss-ProtVAR_017989Diseasep.CYS776TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023870Diseasep.CYS781TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065986Diseasep.CYS790TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065987Diseasep.CYS811TYRMarfan syndrome (MFS)
Swiss-ProtVAR_023871Diseasep.CYS832TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065989Diseasep.CYS926TYRMarfan syndrome (MFS)
Swiss-ProtVAR_018003Diseasep.GLU1325GLNMarfan syndrome (MFS)
Swiss-ProtVAR_018002Diseasep.GLU1200GLYMarfan syndrome (MFS)
Swiss-ProtVAR_066002Diseasep.GLU1976GLYMarfan syndrome (MFS)
Swiss-ProtVAR_017994Diseasep.GLU913GLYMarfan syndrome (MFS)
Swiss-ProtVAR_002307Diseasep.GLU1073LYSMarfan syndrome (MFS)
Swiss-ProtVAR_018006Diseasep.GLU1366LYSMarfan syndrome (MFS)
Swiss-ProtVAR_002342Diseasep.GLU2447LYSEctopia lentis 1, isolated, autosomal dominant (ECTOL1)
Swiss-ProtVAR_023908Diseasep.GLU2570LYSMarfan syndrome (MFS)
Swiss-ProtVAR_023913Polymorphismp.GLU2610LYSN/A
Swiss-ProtVAR_002298Diseasep.GLY1013ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023907Diseasep.GLY2536ARGMarfan syndrome (MFS)
Swiss-ProtVAR_018041Diseasep.GLY2618ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002346Diseasep.GLY2627ARGMarfan syndrome (MFS)
Swiss-ProtVAR_017996Diseasep.GLY985ARGMarfan syndrome (MFS)
Swiss-ProtVAR_023873Diseasep.GLY1058ASPMarfan syndrome (MFS)
Swiss-ProtVAR_065991Diseasep.GLY1185ASPMarfan syndrome (MFS)
Swiss-ProtVAR_064049Diseasep.GLY1594ASPStiff skin syndrome (SSKS)
Swiss-ProtVAR_017976Diseasep.GLY592ASPMarfan syndrome (MFS)
Swiss-ProtVAR_066000Diseasep.GLY1838CYSMarfan syndrome (MFS)
Swiss-ProtVAR_018044Diseasep.GLY2668CYSMarfan syndrome (MFS)
Swiss-ProtVAR_023884Diseasep.GLY1475GLUMarfan syndrome (MFS)
Swiss-ProtVAR_018019Diseasep.GLY1796GLUMarfan syndrome (MFS)
Swiss-ProtVAR_018319Diseasep.GLY985GLUMarfan syndrome (MFS)
Swiss-ProtVAR_002312Polymorphismp.GLY1127SERN/A
Swiss-ProtVAR_023885Diseasep.GLY1475SERMarfan syndrome (MFS)
Swiss-ProtVAR_066542Diseasep.GLY1762SERGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_055725Polymorphismp.GLY363SERN/A
Swiss-ProtVAR_017974Diseasep.GLY560SERMarfan syndrome (MFS)
Swiss-ProtVAR_066535Diseasep.GLY1726VALAcromicric dysplasia (ACMICD)
Swiss-ProtVAR_055723Polymorphismp.HIS133GLNN/A
Swiss-ProtVAR_002345Diseasep.HIS2623PROMarfan syndrome (MFS)
Swiss-ProtVAR_002301Diseasep.ILE1048THRMarfan syndrome (MFS)
Swiss-ProtVAR_018022Diseasep.ILE1909THRMarfan syndrome (MFS)
Swiss-ProtVAR_066005Diseasep.ILE2185THRMarfan syndrome (MFS)
Swiss-ProtVAR_018033Diseasep.ILE2269THRMarfan syndrome (MFS)
Swiss-ProtVAR_018040Diseasep.ILE2585THRMarfan syndrome (MFS)
Swiss-ProtVAR_055724Polymorphismp.ILE329THRN/A
Swiss-ProtVAR_055726Polymorphismp.ILE1048VALN/A
Swiss-ProtVAR_002300Diseasep.LYS1043ARGMarfan syndrome (MFS)
Swiss-ProtVAR_002299Diseasep.LYS1023ASNMarfan syndrome (MFS)
Swiss-ProtVAR_066532Diseasep.MET1714ARGAcromicric dysplasia (ACMICD)
Swiss-ProtVAR_023887Diseasep.MET1576THRMarfan syndrome (MFS)
Swiss-ProtVAR_002315Polymorphismp.PRO1148ALAN/A
Swiss-ProtVAR_018010Diseasep.PRO1424ALAMarfan syndrome (MFS)
Swiss-ProtVAR_018030Diseasep.PRO2154ARGEctopia lentis 1, isolated, autosomal dominant (ECTOL1)
Swiss-ProtVAR_065990Diseasep.PRO1090SERMarfan syndrome (MFS)
Swiss-ProtVAR_023883Diseasep.PRO1424SERMarfan syndrome (MFS)
Swiss-ProtVAR_002330Diseasep.PRO1837SERMarfan syndrome (MFS)
Swiss-ProtVAR_055734Polymorphismp.PRO2278SERN/A
Swiss-ProtVAR_066540Diseasep.SER1750ARGAcromicric dysplasia (ACMICD)
Swiss-ProtVAR_017970Diseasep.SER115CYSEctopia lentis 1, isolated, autosomal dominant (ECTOL1)
Swiss-ProtVAR_066534Diseasep.SER1722CYSAcromicric dysplasia (ACMICD)
Swiss-ProtVAR_065997Polymorphismp.SER1481GLYN/A
Swiss-ProtVAR_017982Diseasep.SER681TYRMarfan syndrome (MFS)
Swiss-ProtVAR_065994Diseasep.THR1401ALAMarfan syndrome (MFS)
Swiss-ProtVAR_023893Diseasep.THR1887ILEMarfan syndrome (MFS)
Swiss-ProtVAR_018028Polymorphismp.THR2101METN/A
Swiss-ProtVAR_064047Diseasep.TRP1570CYSStiff skin syndrome (SSKS)
Swiss-ProtVAR_017973Diseasep.TRP366CYSMarfan syndrome (MFS)
Swiss-ProtVAR_002281Diseasep.TRP217GLYMarfan syndrome (MFS)
Swiss-ProtVAR_023878Diseasep.TYR1261ASPMarfan syndrome (MFS)
Swiss-ProtVAR_066529Diseasep.TYR1699ASPGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_018000Diseasep.TYR1101CYSMarfan syndrome (MFS)
Swiss-ProtVAR_023877Diseasep.TYR1219CYSMarfan syndrome (MFS)
Swiss-ProtVAR_010778Diseasep.TYR1261CYSMarfan syndrome (MFS)
Swiss-ProtVAR_066527Diseasep.TYR1696CYSGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_066528Diseasep.TYR1699CYSGeleophysic dysplasia 2 (GPHYSD2)
Swiss-ProtVAR_066530Diseasep.TYR1700CYSAcromicric dysplasia (ACMICD)
Swiss-ProtVAR_023859Diseasep.TYR20CYSMarfan syndrome (MFS)
Swiss-ProtVAR_018038Diseasep.TYR2474CYSMarfan syndrome (MFS)
Swiss-ProtVAR_023914Diseasep.TYR2629CYSMarfan syndrome (MFS)
Swiss-ProtVAR_023868Diseasep.TYR635CYSMarfan syndrome (MFS)
Swiss-ProtVAR_002292Diseasep.TYR746CYSMarfan syndrome (MFS)
Swiss-ProtVAR_066011Polymorphismp.TYR2793HISN/A
Swiss-ProtVAR_055732Polymorphismp.TYR2113PHEN/A
Swiss-ProtVAR_018001Polymorphismp.VAL1128ILEN/A
Swiss-ProtVAR_055730Polymorphismp.VAL2018ILEN/A
Swiss-ProtVAR_002296Diseasep.VAL984ILEMarfan syndrome (MFS)



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