Reviewed,
UniProtKB/Swiss-Prot P35555 (FBN1_HUMAN)
Last modified
June 16, 2009.
Version 120.
History...
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Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents
Names and origin
| Protein names | Recommended name: Fibrillin-1 | ||||
| Gene names |
| ||||
| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 2871 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is further processed into a mature form. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Function | Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. |
| Subunit structure | Interacts with COL16A1. Ref.8 |
| Subcellular location | |
| Post-translational modification | Forms intermolecular disulfide bonds either with other fibrillin-1 molecules or with other components of the microfibrils. |
| Involvement in disease | Defects in FBN1 are a cause of Marfan syndrome (MFS) [MIM:154700]. MFS is an autosomal dominant disorder that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with MFS, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in up to about 80% of MFS patients and is almost always bilateral. The leading cause of premature death in MFS patients is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini. Ref.2 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.33 Ref.35 Ref.36 Ref.37 Ref.38 Ref.40 Ref.43 Ref.44 Ref.45 Ref.46 Ref.47 Ref.48 Ref.49 Ref.50 Ref.52 Ref.53 Ref.54 Ref.55 Defects in FBN1 are a cause of isolated ectopia lentis (EL) [MIM:129600]. The symptoms of this autosomal dominant fibrillinopathy overlap with those of Marfan syndrome, with the exclusion of the skeletal and cardiovascular manifestations. Ref.48 Ref.49 Ref.50 Ref.52 Ref.26 Defects in FBN1 are the cause of autosomal dominant Weill-Marchesani syndrome (WMS) [MIM:608328]. WMS is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma. Ref.51 Defects in FBN1 are a cause of Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]. SGS is a very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities. Ref.33 Defects in FBN1 are a cause of MASS syndrome [MIM:604308]. MASS syndrome is a heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable. Ref.18 |
| Sequence similarities | Belongs to the fibrillin family. Contains 47 EGF-like domains. Contains 9 TB (TGF-beta binding) domains. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Extracellular matrix Secreted |
| Coding sequence diversity | Polymorphism |
| Disease | Craniosynostosis Disease mutation |
| Domain | EGF-like domain Repeat Signal |
| Ligand | Calcium |
| PTM | Disulfide bond Glycoprotein Phosphoprotein |
| Technical term | 3D-structure |
| Gene Ontology (GO) | |
| Biological process | heart development Inferred from mutant phenotype. Source: UniProtKB skeletal system development Ref.26Inferred from mutant phenotype. Source: UniProtKB |
| Cellular component | basement membrane Inferred from direct assay. Source: UniProtKB extracellular spaceInferred from direct assay. Source: UniProtKB microfibril Ref.7Inferred from direct assay. Source: UniProtKB |
| Molecular function | calcium ion binding Ref.3 Ref.26 Inferred from direct assay. Source: UniProtKB extracellular matrix structural constituentInferred from direct assay. Source: UniProtKB protein binding Ref.8Inferred from physical interaction. Source: UniProtKB |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||||
Molecule processing | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Signal peptide | 1 – 27 | 27 | Potential | ||||||||
| Chain | 28 – 2871 | 2844 | Fibrillin-1 | PRO_0000007581 | |||||||
Regions | |||||||||||
| Domain | 81 – 112 | 32 | EGF-like 1 | ||||||||
| Domain | 115 – 146 | 32 | EGF-like 2 | ||||||||
| Domain | 147 – 178 | 32 | EGF-like 3 | ||||||||
| Domain | 184 – 236 | 53 | TB 1 | ||||||||
| Domain | 246 – 287 | 42 | EGF-like 4; calcium-binding | ||||||||
| Domain | 288 – 329 | 42 | EGF-like 5; calcium-binding | ||||||||
| Domain | 334 – 389 | 56 | TB 2 | ||||||||
| Domain | 449 – 489 | 41 | EGF-like 6 | ||||||||
| Domain | 490 – 529 | 40 | EGF-like 7; calcium-binding | ||||||||
| Domain | 530 – 571 | 42 | EGF-like 8; calcium-binding | ||||||||
| Domain | 572 – 612 | 41 | EGF-like 9; calcium-binding | ||||||||
| Domain | 613 – 653 | 41 | EGF-like 10; calcium-binding | ||||||||
| Domain | 659 – 711 | 53 | TB 3 | ||||||||
| Domain | 723 – 764 | 42 | EGF-like 11; calcium-binding | ||||||||
| Domain | 765 – 806 | 42 | EGF-like 12; calcium-binding | ||||||||
| Domain | 807 – 846 | 40 | EGF-like 13; calcium-binding | ||||||||
| Domain | 851 – 902 | 52 | TB 4 | ||||||||
| Domain | 910 – 951 | 42 | EGF-like 14; calcium-binding | ||||||||
| Domain | 956 – 1008 | 53 | TB 5 | ||||||||
| Domain | 1028 – 1069 | 42 | EGF-like 15; calcium-binding | ||||||||
| Domain | 1070 – 1112 | 43 | EGF-like 16; calcium-binding | ||||||||
| Domain | 1113 – 1154 | 42 | EGF-like 17; calcium-binding | ||||||||
| Domain | 1155 – 1196 | 42 | EGF-like 18; calcium-binding | ||||||||
| Domain | 1197 – 1237 | 41 | EGF-like 19; calcium-binding | ||||||||
| Domain | 1238 – 1279 | 42 | EGF-like 20; calcium-binding | ||||||||
| Domain | 1280 – 1321 | 42 | EGF-like 21; calcium-binding | ||||||||
| Domain | 1322 – 1362 | 41 | EGF-like 22; calcium-binding | ||||||||
| Domain | 1363 – 1403 | 41 | EGF-like 23; calcium-binding | ||||||||
| Domain | 1404 – 1445 | 42 | EGF-like 24; calcium-binding | ||||||||
| Domain | 1446 – 1486 | 41 | EGF-like 25; calcium-binding | ||||||||
| Domain | 1487 – 1527 | 41 | EGF-like 26; calcium-binding | ||||||||
| Domain | 1532 – 1589 | 58 | TB 6 | ||||||||
| Domain | 1606 – 1647 | 42 | EGF-like 27; calcium-binding | ||||||||
| Domain | 1648 – 1688 | 41 | EGF-like 28; calcium-binding | ||||||||
| Domain | 1693 – 1748 | 56 | TB 7 | ||||||||
| Domain | 1766 – 1807 | 42 | EGF-like 29; calcium-binding | ||||||||
| Domain | 1808 – 1848 | 41 | EGF-like 30; calcium-binding | ||||||||
| Domain | 1849 – 1890 | 42 | EGF-like 31; calcium-binding | ||||||||
| Domain | 1891 – 1929 | 39 | EGF-like 32; calcium-binding | ||||||||
| Domain | 1930 – 1972 | 43 | EGF-like 33; calcium-binding | ||||||||
| Domain | 1973 – 2012 | 40 | EGF-like 34; calcium-binding | ||||||||
| Domain | 2013 – 2054 | 42 | EGF-like 35; calcium-binding | ||||||||
| Domain | 2059 – 2111 | 53 | TB 8 | ||||||||
| Domain | 2127 – 2165 | 39 | EGF-like 36; calcium-binding | ||||||||
| Domain | 2166 – 2205 | 40 | EGF-like 37; calcium-binding | ||||||||
| Domain | 2206 – 2246 | 41 | EGF-like 38; calcium-binding | ||||||||
| Domain | 2247 – 2290 | 44 | EGF-like 39; calcium-binding | ||||||||
| Domain | 2291 – 2332 | 42 | EGF-like 40; calcium-binding | ||||||||
| Domain | 2337 – 2390 | 54 | TB 9 | ||||||||
| Domain | 2402 – 2443 | 42 | EGF-like 41; calcium-binding | ||||||||
| Domain | 2444 – 2484 | 41 | EGF-like 42; calcium-binding | ||||||||
| Domain | 2485 – 2523 | 39 | EGF-like 43; calcium-binding | ||||||||
| Domain | 2524 – 2566 | 43 | EGF-like 44; calcium-binding | ||||||||
| Domain | 2567 – 2606 | 40 | EGF-like 45; calcium-binding | ||||||||
| Domain | 2607 – 2647 | 41 | EGF-like 46; calcium-binding | ||||||||
| Domain | 2648 – 2687 | 40 | EGF-like 47; calcium-binding | ||||||||
| Compositional bias | 402 – 446 | 45 | Pro-rich | ||||||||
Amino acid modifications | |||||||||||
| Modified residue | 1103 | 1 | Phosphoserine By similarity | ||||||||
| Modified residue | 2071 | 1 | Phosphoserine By similarity | ||||||||
| Glycosylation | 448 | 1 | N-linked (GlcNAc...) | ||||||||
| Glycosylation | 1067 | 1 | N-linked (GlcNAc...) | ||||||||
| Glycosylation | 1149 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1369 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1484 | 1 | N-linked (GlcNAc...) | ||||||||
| Glycosylation | 1581 | 1 | N-linked (GlcNAc...) | ||||||||
| Glycosylation | 1669 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1703 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1713 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 1902 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2077 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2178 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2734 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2750 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Glycosylation | 2767 | 1 | N-linked (GlcNAc...) Potential | ||||||||
| Disulfide bond | 85 ↔ 94 | By similarity | |||||||||
| Disulfide bond | 89 ↔ 100 | By similarity | |||||||||
| Disulfide bond | 102 ↔ 111 | By similarity | |||||||||
| Disulfide bond | 119 ↔ 129 | By similarity | |||||||||
| Disulfide bond | 123 ↔ 134 | By similarity | |||||||||
| Disulfide bond | 136 ↔ 145 | By similarity | |||||||||
| Disulfide bond | 150 ↔ 160 | By similarity | |||||||||
| Disulfide bond | 154 ↔ 166 | By similarity | |||||||||
| Disulfide bond | 168 ↔ 177 | By similarity | |||||||||
| Disulfide bond | 250 ↔ 262 | By similarity | |||||||||
| Disulfide bond | 257 ↔ 271 | By similarity | |||||||||
| Disulfide bond | 273 ↔ 286 | By similarity | |||||||||
| Disulfide bond | 292 ↔ 304 | By similarity | |||||||||
| Disulfide bond | 299 ↔ 313 | By similarity | |||||||||
| Disulfide bond | 315 ↔ 328 | By similarity | |||||||||
| Disulfide bond | 453 ↔ 465 | By similarity | |||||||||
| Disulfide bond | 460 ↔ 474 | By similarity | |||||||||
| Disulfide bond | 476 ↔ 488 | By similarity | |||||||||
| Disulfide bond | 494 ↔ 504 | By similarity | |||||||||
| Disulfide bond | 499 ↔ 513 | By similarity | |||||||||
| Disulfide bond | 515 ↔ 528 | By similarity | |||||||||
| Disulfide bond | 534 ↔ 546 | By similarity | |||||||||
| Disulfide bond | 541 ↔ 555 | By similarity | |||||||||
| Disulfide bond | 557 ↔ 570 | By similarity | |||||||||
| Disulfide bond | 576 ↔ 587 | By similarity | |||||||||
| Disulfide bond | 582 ↔ 596 | By similarity | |||||||||
| Disulfide bond | 598 ↔ 611 | By similarity | |||||||||
| Disulfide bond | 617 ↔ 628 | By similarity | |||||||||
| Disulfide bond | 623 ↔ 637 | By similarity | |||||||||
| Disulfide bond | 639 ↔ 652 | By similarity | |||||||||
| Disulfide bond | 727 ↔ 739 | By similarity | |||||||||
| Disulfide bond | 734 ↔ 748 | By similarity | |||||||||
| Disulfide bond | 750 ↔ 763 | By similarity | |||||||||
| Disulfide bond | 769 ↔ 781 | By similarity | |||||||||
| Disulfide bond | 776 ↔ 790 | By similarity | |||||||||
| Disulfide bond | 792 ↔ 805 | By similarity | |||||||||
| Disulfide bond | 811 ↔ 821 | By similarity | |||||||||
| Disulfide bond | 816 ↔ 830 | By similarity | |||||||||
| Disulfide bond | 832 ↔ 845 | By similarity | |||||||||
| Disulfide bond | 914 ↔ 926 | By similarity | |||||||||
| Disulfide bond | 921 ↔ 935 | By similarity | |||||||||
| Disulfide bond | 937 ↔ 950 | By similarity | |||||||||
| Disulfide bond | 1032 ↔ 1044 | By similarity | |||||||||
| Disulfide bond | 1039 ↔ 1053 | By similarity | |||||||||
| Disulfide bond | 1055 ↔ 1068 | By similarity | |||||||||
| Disulfide bond | 1074 ↔ 1086 | By similarity | |||||||||
| Disulfide bond | 1081 ↔ 1095 | By similarity | |||||||||
| Disulfide bond | 1097 ↔ 1111 | By similarity | |||||||||
| Disulfide bond | 1117 ↔ 1129 | By similarity | |||||||||
| Disulfide bond | 1124 ↔ 1138 | By similarity | |||||||||
| Disulfide bond | 1140 ↔ 1153 | By similarity | |||||||||
| Disulfide bond | 1159 ↔ 1171 | By similarity | |||||||||
| Disulfide bond | 1166 ↔ 1180 | By similarity | |||||||||
| Disulfide bond | 1182 ↔ 1195 | By similarity | |||||||||
| Disulfide bond | 1201 ↔ 1212 | By similarity | |||||||||
| Disulfide bond | 1208 ↔ 1221 | By similarity | |||||||||
| Disulfide bond | 1223 ↔ 1236 | By similarity | |||||||||
| Disulfide bond | 1242 ↔ 1254 | By similarity | |||||||||
| Disulfide bond | 1249 ↔ 1263 | By similarity | |||||||||
| Disulfide bond | 1265 ↔ 1278 | By similarity | |||||||||
| Disulfide bond | 1284 ↔ 1296 | By similarity | |||||||||
| Disulfide bond | 1291 ↔ 1305 | By similarity | |||||||||
| Disulfide bond | 1307 ↔ 1320 | By similarity | |||||||||
| Disulfide bond | 1326 ↔ 1339 | By similarity | |||||||||
| Disulfide bond | 1333 ↔ 1348 | By similarity | |||||||||
| Disulfide bond | 1350 ↔ 1361 | By similarity | |||||||||
| Disulfide bond | 1367 ↔ 1380 | By similarity | |||||||||
| Disulfide bond | 1374 ↔ 1389 | By similarity | |||||||||
| Disulfide bond | 1391 ↔ 1402 | By similarity | |||||||||
| Disulfide bond | 1408 ↔ 1420 | By similarity | |||||||||
| Disulfide bond | 1415 ↔ 1429 | By similarity | |||||||||
| Disulfide bond | 1431 ↔ 1444 | By similarity | |||||||||
| Disulfide bond | 1450 ↔ 1461 | By similarity | |||||||||
| Disulfide bond | 1456 ↔ 1470 | By similarity | |||||||||
| Disulfide bond | 1472 ↔ 1485 | By similarity | |||||||||
| Disulfide bond | 1491 ↔ 1502 | By similarity | |||||||||
| Disulfide bond | 1497 ↔ 1511 | By similarity | |||||||||
| Disulfide bond | 1513 ↔ 1526 | By similarity | |||||||||
| Disulfide bond | 1610 ↔ 1622 | By similarity | |||||||||
| Disulfide bond | 1617 ↔ 1631 | By similarity | |||||||||
| Disulfide bond | 1633 ↔ 1646 | By similarity | |||||||||
| Disulfide bond | 1652 ↔ 1663 | By similarity | |||||||||
| Disulfide bond | 1658 ↔ 1672 | By similarity | |||||||||
| Disulfide bond | 1674 ↔ 1687 | By similarity | |||||||||
| Disulfide bond | 1770 ↔ 1782 | By similarity | |||||||||
| Disulfide bond | 1777 ↔ 1791 | By similarity | |||||||||
| Disulfide bond | 1793 ↔ 1806 | By similarity | |||||||||
| Disulfide bond | 1812 ↔ 1824 | By similarity | |||||||||
| Disulfide bond | 1818 ↔ 1833 | By similarity | |||||||||
| Disulfide bond | 1835 ↔ 1847 | By similarity | |||||||||
| Disulfide bond | 1853 ↔ 1865 | By similarity | |||||||||
| Disulfide bond | 1860 ↔ 1874 | By similarity | |||||||||
| Disulfide bond | 1876 ↔ 1889 | By similarity | |||||||||
| Disulfide bond | 1895 ↔ 1905 | By similarity | |||||||||
| Disulfide bond | 1900 ↔ 1914 | By similarity | |||||||||
| Disulfide bond | 1916 ↔ 1928 | By similarity | |||||||||
| Disulfide bond | 1934 ↔ 1947 | By similarity | |||||||||
| Disulfide bond | 1942 ↔ 1956 | By similarity | |||||||||
| Disulfide bond | 1958 ↔ 1971 | By similarity | |||||||||
| Disulfide bond | 1977 ↔ 1989 | By similarity | |||||||||
| Disulfide bond | 1984 ↔ 1998 | By similarity | |||||||||
| Disulfide bond | 2000 ↔ 2011 | By similarity | |||||||||
| Disulfide bond | 2017 ↔ 2029 | By similarity | |||||||||
| Disulfide bond | 2024 ↔ 2038 | By similarity | |||||||||
| Disulfide bond | 2040 ↔ 2053 | By similarity | |||||||||
| Disulfide bond | 2061 ↔ 2083 | ||||||||||
| Disulfide bond | 2070 ↔ 2096 | ||||||||||
| Disulfide bond | 2084 ↔ 2099 | ||||||||||
| Disulfide bond | 2085 ↔ 2111 | ||||||||||
| Disulfide bond | 2131 ↔ 2142 | By similarity | |||||||||
| Disulfide bond | 2137 ↔ 2151 | By similarity | |||||||||
| Disulfide bond | 2153 ↔ 2164 | By similarity | |||||||||
| Disulfide bond | 2170 ↔ 2181 | By similarity | |||||||||
| Disulfide bond | 2176 ↔ 2190 | By similarity | |||||||||
| Disulfide bond | 2192 ↔ 2204 | By similarity | |||||||||
| Disulfide bond | 2210 ↔ 2221 | By similarity | |||||||||
| Disulfide bond | 2217 ↔ 2230 | By similarity | |||||||||
| Disulfide bond | 2232 ↔ 2245 | By similarity | |||||||||
| Disulfide bond | 2251 ↔ 2265 | By similarity | |||||||||
| Disulfide bond | 2258 ↔ 2274 | By similarity | |||||||||
| Disulfide bond | 2276 ↔ 2289 | By similarity | |||||||||
| Disulfide bond | 2295 ↔ 2307 | By similarity | |||||||||
| Disulfide bond | 2302 ↔ 2316 | By similarity | |||||||||
| Disulfide bond | 2318 ↔ 2331 | By similarity | |||||||||
| Disulfide bond | 2406 ↔ 2418 | By similarity | |||||||||
| Disulfide bond | 2413 ↔ 2427 | By similarity | |||||||||
| Disulfide bond | 2429 ↔ 2442 | By similarity | |||||||||
| Disulfide bond | 2448 ↔ 2459 | By similarity | |||||||||
| Disulfide bond | 2455 ↔ 2468 | By similarity | |||||||||
| Disulfide bond | 2470 ↔ 2483 | By similarity | |||||||||
| Disulfide bond | 2489 ↔ 2500 | By similarity | |||||||||
| Disulfide bond | 2496 ↔ 2509 | By similarity | |||||||||
| Disulfide bond | 2511 ↔ 2522 | By similarity | |||||||||
| Disulfide bond | 2528 ↔ 2541 | By similarity | |||||||||
| Disulfide bond | 2535 ↔ 2550 | By similarity | |||||||||
| Disulfide bond | 2552 ↔ 2565 | By similarity | |||||||||
| Disulfide bond | 2571 ↔ 2581 | By similarity | |||||||||
| Disulfide bond | 2577 ↔ 2590 | By similarity | |||||||||
| Disulfide bond | 2592 ↔ 2605 | By similarity | |||||||||
| Disulfide bond | 2611 ↔ 2622 | By similarity | |||||||||
| Disulfide bond | 2617 ↔ 2631 | By similarity | |||||||||
| Disulfide bond | 2633 ↔ 2646 | By similarity | |||||||||
| Disulfide bond | 2652 ↔ 2663 | By similarity | |||||||||
| Disulfide bond | 2659 ↔ 2672 | By similarity | |||||||||
| Disulfide bond | 2674 ↔ 2686 | By similarity | |||||||||
Natural variations | |||||||||||
| Natural variant | 20 | 1 | Y → C in MFS. Ref.54 | VAR_023859 | |||||||
| Natural variant | 27 | 1 | A → T: dbSNP rs25397. | VAR_014663 | |||||||
| Natural variant | 62 | 1 | R → C in MFS; also in a patient with ectopia lentis and retinal detachment. Ref.49 | VAR_017967 | |||||||
| Natural variant | 89 | 1 | C → F in MFS. Ref.48 | VAR_017968 | |||||||
| Natural variant | 111 | 1 | C → R in MFS. Ref.40 | VAR_002276 | |||||||
| Natural variant | 114 | 1 | R → C in MFS. Ref.50 | VAR_017969 | |||||||
| Natural variant | 115 | 1 | S → C in EL. Ref.49 | VAR_017970 | |||||||
| Natural variant | 122 | 1 | R → C in MFS. Ref.28 Ref.44 Ref.48 | VAR_002277 | |||||||
| Natural variant | 123 | 1 | C → Y in MFS. Ref.54 | VAR_023860 | |||||||
| Natural variant | 129 | 1 | C → Y in MFS; severe neonatal. Ref.33 | VAR_002278 | |||||||
| Natural variant | 133 | 1 | H → Q: dbSNP rs363850. | VAR_055723 | |||||||
| Natural variant | 154 | 1 | C → S in MFS. Ref.52 | VAR_017971 | |||||||
| Natural variant | 166 | 1 | C → F in MFS. Ref.33 Ref.52 | VAR_002279 | |||||||
| Natural variant | 166 | 1 | C → S in MFS. Ref.33 Ref.52 | VAR_002280 | |||||||
| Natural variant | 177 | 1 | C → R in MFS. Ref.54 | VAR_023861 | |||||||
| Natural variant | 217 | 1 | W → G in MFS. Ref.25 Ref.31 | VAR_002281 | |||||||
| Natural variant | 224 | 1 | C → R in MFS. Ref.54 | VAR_023862 | |||||||
| Natural variant | 240 | 1 | R → C in MFS and EL. | VAR_017972 | |||||||
| Natural variant | 329 | 1 | I → T: dbSNP rs12324002. | VAR_055724 | |||||||
| Natural variant | 363 | 1 | G → S: dbSNP rs363855. | VAR_055725 | |||||||
| Natural variant | 366 | 1 | W → C in MFS. Ref.48 | VAR_017973 | |||||||
| Natural variant | 439 | 1 | R → G in MFS. Ref.54 | VAR_023863 | |||||||
| Natural variant | 476 | 1 | C → G in MFS. | VAR_002282 | |||||||
| Natural variant | 490 | 1 | D → Y in MFS. | VAR_002283 | |||||||
| Natural variant | 504 | 1 | C → F in MFS. Ref.47 | VAR_010776 | |||||||
| Natural variant | 507 | 1 | Missing in MFS. Ref.55 | VAR_023864 | |||||||
| Natural variant | 541 | 1 | C → Y in MFS. Ref.55 | VAR_023865 | |||||||
| Natural variant | 545 | 1 | R → C in MFS. Ref.40 Ref.48 | VAR_002284 | |||||||
| Natural variant | 548 | 1 | N → I in MFS. Ref.22 | VAR_002285 | |||||||
| Natural variant | 560 | 1 | G → S in MFS. Ref.48 | VAR_017974 | |||||||
| Natural variant | 570 | 1 | C → Y in MFS. Ref.48 | VAR_017975 | |||||||
| Natural variant | 587 | 1 | C → Y in MFS. Ref.38 Ref.49 | VAR_002286 | |||||||
| Natural variant | 592 | 1 | G → D in MFS. Ref.48 | VAR_017976 | |||||||
| Natural variant | 596 | 1 | C → Y in MFS. Ref.49 | VAR_017977 | |||||||
| Natural variant | 598 | 1 | C → W in MFS. Ref.48 | VAR_017978 | |||||||
| Natural variant | 627 | 1 | R → C in MFS; enhances proteolytic degradation. Ref.27 Ref.40 Ref.53 Ref.55 | VAR_002287 | |||||||
| Natural variant | 628 | 1 | C → K in MFS; requires 2 nucleotide substitutions. | VAR_023866 | |||||||
| Natural variant | 629 – 633 | 5 | Missing in MFS. Ref.54 | VAR_023867 | |||||||
| Natural variant | 635 | 1 | Y → C in MFS. Ref.54 | VAR_023868 | |||||||
| Natural variant | 636 | 1 | R → I in MFS. Ref.54 | VAR_023869 | |||||||
| Natural variant | 652 | 1 | C → S in MFS. Ref.52 | VAR_017979 | |||||||
| Natural variant | 654 | 1 | D → N in MFS. Ref.49 | VAR_017980 | |||||||
| Natural variant | 661 | 1 | C → R in MFS. | VAR_002288 | |||||||
| Natural variant | 661 | 1 | C → Y in EL; patient presenting also mitral valve prolapse. Ref.49 | VAR_017981 | |||||||
| Natural variant | 681 | 1 | S → Y in MFS. Ref.49 | VAR_017982 | |||||||
| Natural variant | 683 | 1 | C → R in MFS. Ref.49 | VAR_017983 | |||||||
| Natural variant | 685 | 1 | C → W in MFS. Ref.49 | VAR_017984 | |||||||
| Natural variant | 705 | 1 | A → T in MFS. Ref.37 Ref.52 | VAR_002289 | |||||||
| Natural variant | 711 | 1 | C → Y in MFS. Ref.37 Ref.52 | VAR_002290 | |||||||
| Natural variant | 723 | 1 | D → A in MFS. Ref.22 Ref.49 | VAR_002291 | |||||||
| Natural variant | 723 | 1 | D → V in MFS. Ref.22 Ref.49 | VAR_017985 | |||||||
| Natural variant | 734 | 1 | C → F in MFS. Ref.49 | VAR_017986 | |||||||
| Natural variant | 746 | 1 | Y → C in MFS. Ref.33 | VAR_002292 | |||||||
| Natural variant | 748 | 1 | C → Y in MFS. Ref.49 | VAR_017987 | |||||||
| Natural variant | 750 | 1 | C → G in MFS; enhances proteolytic degradation. Ref.40 Ref.53 | VAR_002293 | |||||||
| Natural variant | 776 | 1 | C → G in MFS. Ref.48 Ref.49 | VAR_017988 | |||||||
| Natural variant | 776 | 1 | C → Y in MFS. Ref.48 Ref.49 | VAR_017989 | |||||||
| Natural variant | 781 | 1 | C → R in MFS. Ref.48 Ref.49 Ref.55 | VAR_017990 | |||||||
| Natural variant | 781 | 1 | C → Y in MFS. Ref.48 Ref.49 Ref.55 | VAR_023870 | |||||||
| Natural variant | 816 | 1 | C → S in MFS. Ref.52 | VAR_017991 | |||||||
| Natural variant | 832 | 1 | C → Y in MFS. Ref.54 | VAR_023871 | |||||||
| Natural variant | 862 | 1 | C → R in MFS. Ref.24 | VAR_002294 | |||||||
| Natural variant | 890 | 1 | C → G in MFS. Ref.50 Ref.54 | VAR_023872 | |||||||
| Natural variant | 890 | 1 | C → R in MFS. Ref.50 Ref.54 | VAR_017992 | |||||||
| Natural variant | 908 | 1 | C → R in MFS. Ref.49 | VAR_017993 | |||||||
| Natural variant | 913 | 1 | E → G in MFS. Ref.48 | VAR_017994 | |||||||
| Natural variant | 921 | 1 | C → G in MFS. Ref.49 | VAR_017995 | |||||||
| Natural variant | 926 | 1 | C → R in MFS; enhances proteolytic degradation. Ref.33 Ref.53 | VAR_002295 | |||||||
| Natural variant | 984 | 1 | V → I in MFS. Ref.45 | VAR_002296 | |||||||
| Natural variant | 985 | 1 | G → E in MFS; atypical. Ref.46 Ref.48 Ref.55 | VAR_018319 | |||||||
| Natural variant | 985 | 1 | G → R in MFS. Ref.46 Ref.48 Ref.55 | VAR_017996 | |||||||
| Natural variant | 996 | 1 | C → R in MFS. | VAR_002297 | |||||||
| Natural variant | 1013 | 1 | G → R in MFS; severe neonatal. Ref.33 Ref.48 Ref.52 Ref.55 | VAR_002298 | |||||||
| Natural variant | 1023 | 1 | K → N in MFS; severe neonatal. Ref.31 | VAR_002299 | |||||||
| Natural variant | 1043 | 1 | K → R in MFS. | VAR_002300 | |||||||
| Natural variant | 1044 | 1 | C → Y in MFS. Ref.52 | VAR_017997 | |||||||
| Natural variant | 1048 | 1 | I → T in MFS. | VAR_002301 | |||||||
| Natural variant | 1048 | 1 | I → V: dbSNP rs2229324. | VAR_055726 | |||||||
| Natural variant | 1048 | 1 | Missing in MFS. | VAR_002302 | |||||||
| Natural variant | 1053 | 1 | C → R in MFS. Ref.36 | VAR_002303 | |||||||
| Natural variant | 1055 | 1 | C → G in MFS; neonatal. Ref.37 Ref.48 Ref.52 | VAR_002304 | |||||||
| Natural variant | 1055 | 1 | C → W in MFS. Ref.37 Ref.48 Ref.52 | VAR_017998 | |||||||
| Natural variant | 1055 | 1 | C → Y in MFS. Ref.37 Ref.48 Ref.52 | VAR_017999 | |||||||
| Natural variant | 1058 | 1 | G → D in MFS. Ref.54 | VAR_023873 | |||||||
| Natural variant | 1058 | 1 | G → GC in MFS. Ref.54 | VAR_002305 | |||||||
| Natural variant | 1072 | 1 | D → G in MFS. Ref.36 | VAR_002306 | |||||||
| Natural variant | 1073 | 1 | E → K in MFS; severe neonatal. Ref.33 Ref.36 | VAR_002307 | |||||||
| Natural variant | 1074 | 1 | C → R in MFS; severe neonatal. Ref.31 Ref.40 | VAR_002308 | |||||||
| Natural variant | 1086 | 1 | C → W in MFS. | VAR_002309 | |||||||
| Natural variant | 1101 | 1 | Y → C in MFS. Ref.48 Ref.52 | VAR_018000 | |||||||
| Natural variant | 1113 | 1 | D → G: dbSNP rs140597. | VAR_055727 | |||||||
| Natural variant | 1113 | 1 | D → V in MFS. Ref.55 | VAR_023874 | |||||||
| Natural variant | 1117 | 1 | C → G in MFS. Ref.24 Ref.36 Ref.52 | VAR_002310 | |||||||
| Natural variant | 1117 | 1 | C → Y in MFS. Ref.24 Ref.36 Ref.52 | VAR_002311 | |||||||
| Natural variant | 1127 | 1 | G → S in a mild form of inherited weakness of elastic tissue that predisposes to ascending aortic aneurysm and dissection later in life. Ref.32 | VAR_002312 | |||||||
| Natural variant | 1128 | 1 | V → I in a patient with mitral valve prolapse. Ref.48 | VAR_018001 | |||||||
| Natural variant | 1129 | 1 | C → Y in MFS. Ref.47 | VAR_010777 | |||||||
| Natural variant | 1131 | 1 | N → Y in MFS. | VAR_002313 | |||||||
| Natural variant | 1137 | 1 | R → P in MFS. Ref.19 Ref.24 | VAR_002314 | |||||||
| Natural variant | 1148 | 1 | P → A: dbSNP rs140598. Ref.24 Ref.39 Ref.41 Ref.42 | VAR_002315 | |||||||
| Natural variant | 1153 | 1 | C → S in MFS. Ref.37 Ref.52 Ref.54 | VAR_023875 | |||||||
| Natural variant | 1153 | 1 | C → Y in MFS; severe. Ref.37 Ref.52 Ref.54 | VAR_002316 | |||||||
| Natural variant | 1155 | 1 | D → N in MFS. Ref.52 | VAR_002317 | |||||||
| Natural variant | 1170 | 1 | R → H in MFS; mild. Ref.30 Ref.40 | VAR_002318 | |||||||
| Natural variant | 1171 | 1 | C → W in MFS. Ref.40 | VAR_002319 | |||||||
| Natural variant | 1173 | 1 | N → K in MFS. Ref.40 | VAR_002320 | |||||||
| Natural variant | 1200 | 1 | E → G in MFS. Ref.50 | VAR_018002 | |||||||
| Natural variant | 1211 | 1 | Missing in MFS. Ref.54 | VAR_023876 | |||||||
| Natural variant | 1219 | 1 | Y → C in MFS. Ref.54 | VAR_023877 | |||||||
| Natural variant | 1223 | 1 | C → Y in MFS and SGS. | VAR_002321 | |||||||
| Natural variant | 1242 | 1 | C → Y in MFS. Ref.31 | VAR_002322 | |||||||
| Natural variant | 1249 | 1 | C → S in MFS. Ref.20 | VAR_002323 | |||||||
| Natural variant | 1261 | 1 | Y → C in MFS. Ref.47 Ref.54 | VAR_010778 | |||||||
| Natural variant | 1261 | 1 | Y → D in MFS. Ref.47 Ref.54 | VAR_023878 | |||||||
| Natural variant | 1265 | 1 | C → R in MFS; subdiagnostic variant of MFS. Ref.43 | VAR_018320 | |||||||
| Natural variant | 1278 | 1 | C → S in MFS. Ref.54 | VAR_023879 | |||||||
| Natural variant | 1282 | 1 | N → S: dbSNP rs140647. | VAR_055728 | |||||||
| Natural variant | 1284 | 1 | C → G in MFS. Ref.55 | VAR_023880 | |||||||
| Natural variant | 1325 | 1 | E → Q in MFS. Ref.52 | VAR_018003 | |||||||
| Natural variant | 1333 | 1 | C → S in MFS. Ref.54 | VAR_023881 | |||||||
| Natural variant | 1337 | 1 | A → P in MFS; neonatal. Ref.48 | VAR_018004 | |||||||
| Natural variant | 1339 | 1 | C → Y in MFS. Ref.48 | VAR_018005 | |||||||
| Natural variant | 1366 | 1 | E → K in MFS. Ref.52 | VAR_018006 | |||||||
| Natural variant | 1374 | 1 | C → S in MFS. Ref.52 | VAR_018007 | |||||||
| Natural variant | 1382 | 1 | N → S in MFS. Ref.33 | VAR_002324 | |||||||
| Natural variant | 1389 | 1 | C → R in MFS. Ref.52 | VAR_018008 | |||||||
| Natural variant | 1394 – 1396 | 3 | Missing in MFS. Ref.52 | VAR_018009 | |||||||
| Natural variant | 1402 | 1 | C → R in MFS. Ref.54 | VAR_023882 | |||||||
| Natural variant | 1404 | 1 | D → Y in MFS. Ref.40 | VAR_002325 | |||||||
| Natural variant | 1424 | 1 | P → A in MFS. Ref.52 Ref.54 | VAR_018010 | |||||||
| Natural variant | 1424 | 1 | P → S in MFS. Ref.52 Ref.54 | VAR_023883 | |||||||
| Natural variant | 1429 | 1 | C → S in MFS. Ref.48 | VAR_018011 | |||||||
| Natural variant | 1475 | 1 | G → E in MFS. Ref.55 | VAR_023884 | |||||||
| Natural variant | 1475 | 1 | G → S in MFS. Ref.55 | VAR_023885 | |||||||
| Natural variant | 1513 | 1 | C → R in MFS. Ref.31 | VAR_002326 | |||||||
| Natural variant | 1530 | 1 | R → C in EL. Ref.48 Ref.52 | VAR_018012 | |||||||
| Natural variant | 1564 | 1 | C → F in MFS. Ref.52 Ref.54 | VAR_023886 | |||||||
| Natural variant | 1564 | 1 | C → Y in MFS. Ref.52 Ref.54 | VAR_018013 | |||||||
| Natural variant | 1576 | 1 | M → T in MFS. Ref.55 | VAR_023887 | |||||||
| Natural variant | 1589 | 1 | C → F in MFS. Ref.24 | VAR_002327 | |||||||
| Natural variant | 1610 | 1 | C → G in MFS. Ref.40 | VAR_002328 | |||||||
| Natural variant | 1631 | 1 | C → G in MFS. Ref.54 | VAR_023888 | |||||||
| Natural variant | 1663 | 1 | C → R in MFS. Ref.20 Ref.54 | VAR_002329 | |||||||
| Natural variant | 1663 | 1 | C → Y in MFS. Ref.20 Ref.54 | VAR_023889 | |||||||
| Natural variant | 1672 | 1 | C → F: dbSNP rs140627. | VAR_055729 | |||||||
| Natural variant | 1692 – 1699 | 8 | Missing in WMS. Ref.51 | VAR_018014 | |||||||
| Natural variant | 1770 | 1 | C → F in MFS. Ref.52 | VAR_018015 | |||||||
| Natural variant | 1790 | 1 | R → P in MFS. Ref.48 Ref.49 | VAR_018016 | |||||||
| Natural variant | 1791 | 1 | C → R in MFS. Ref.48 Ref.55 | VAR_023890 | |||||||
| Natural variant | 1791 | 1 | C → Y in MFS. Ref.48 Ref.55 | VAR_018017 | |||||||
| Natural variant | 1793 | 1 | C → W in MFS. Ref.52 | VAR_018018 | |||||||
| Natural variant | 1796 | 1 | G → E in MFS. Ref.52 | VAR_018019 | |||||||
| Natural variant | 1806 | 1 | C → S in MFS. Ref.49 | VAR_018020 | |||||||
| Natural variant | 1806 | 1 | C → Y in MFS. Ref.49 | VAR_023891 | |||||||
| Natural variant | 1833 | 1 | C → S in MFS. Ref.47 | VAR_010779 | |||||||
| Natural variant | 1835 | 1 | C → Y in MFS. Ref.48 Ref.50 | VAR_018021 | |||||||
| Natural variant | 1837 | 1 | P → S in MFS. | VAR_002330 | |||||||
| Natural variant | 1876 | 1 | C → Y in MFS. Ref.54 | VAR_023892 | |||||||
| Natural variant | 1887 | 1 | T → I in MFS. Ref.54 | VAR_023893 | |||||||
| Natural variant | 1893 | 1 | N → K in MFS. Ref.40 | VAR_002331 | |||||||
| Natural variant | 1895 | 1 | C → R in MFS. Ref.54 | VAR_023894 | |||||||
| Natural variant | 1900 | 1 | C → Y in MFS. Ref.54 | VAR_023895 | |||||||
| Natural variant | 1909 | 1 | I → T in MFS. Ref.48 | VAR_018022 | |||||||
| Natural variant | 1915 | 1 | R → S in MFS. Ref.48 | VAR_018023 | |||||||
| Natural variant | 1928 | 1 | C → G in MFS. Ref.33 Ref.55 | VAR_023896 | |||||||
| Natural variant | 1928 | 1 | C → R in MFS. Ref.33 Ref.55 | VAR_002332 | |||||||
| Natural variant | 1928 | 1 | C → Y in MFS. Ref.33 Ref.55 | VAR_023897 | |||||||
| Natural variant | 1931 | 1 | Missing in MFS. Ref.49 | VAR_018024 | |||||||
| Natural variant | 1971 | 1 | C → Y in MFS. Ref.48 | VAR_018025 | |||||||
| Natural variant | 1977 | 1 | C → Y in MFS. Ref.48 | VAR_018026 | |||||||
| Natural variant | 1998 | 1 | C → Y in MFS. Ref.49 | VAR_018027 | |||||||
| Natural variant | 2018 | 1 | V → I: dbSNP rs363802. | VAR_055730 | |||||||
| Natural variant | 2038 | 1 | C → Y in MFS. Ref.55 | VAR_023898 | |||||||
| Natural variant | 2053 | 1 | C → F: dbSNP rs363805. | VAR_055731 | |||||||
| Natural variant | 2085 | 1 | C → R in MFS. Ref.55 | VAR_023899 | |||||||
| Natural variant | 2099 | 1 | C → W in MFS. Ref.40 | VAR_002333 | |||||||
| Natural variant | 2101 | 1 | T → M Ref.49 | VAR_018028 | |||||||
| Natural variant | 2111 | 1 | C → R in MFS. Ref.40 Ref.50 | VAR_018029 | |||||||
| Natural variant | 2111 | 1 | C → Y in MFS. Ref.40 Ref.50 | VAR_002334 | |||||||
| Natural variant | 2113 | 1 | Y → F: dbSNP rs363816. | VAR_055732 | |||||||
| Natural variant | 2127 | 1 | D → E in MFS. Ref.31 | VAR_002335 | |||||||
| Natural variant | 2142 | 1 | C → Y in MFS. Ref.47 | VAR_010780 | |||||||
| Natural variant | 2144 | 1 | N → S in MFS. Ref.23 Ref.55 | VAR_002336 | |||||||
| Natural variant | 2151 | 1 | C → W in MFS. Ref.31 | VAR_002337 | |||||||
| Natural variant | 2154 | 1 | P → R in EL. Ref.48 | VAR_018030 | |||||||
| Natural variant | 2160 | 1 | A → P in MFS. Ref.54 | VAR_023900 | |||||||
| Natural variant | 2170 | 1 | C → F: dbSNP rs363821. | VAR_055733 | |||||||
| Natural variant | 2221 | 1 | C → F in MFS. Ref.20 Ref.49 Ref.54 | VAR_023901 | |||||||
| Natural variant | 2221 | 1 | C → G in MFS. Ref.20 Ref.49 Ref.54 | VAR_018031 | |||||||
| Natural variant | 2221 | 1 | C → S in MFS. Ref.20 Ref.49 Ref.54 | VAR_002338 | |||||||
| Natural variant | 2223 | 1 | N → H in MFS. Ref.48 | VAR_018032 | |||||||
| Natural variant | 2251 | 1 | C → R in MFS. | VAR_023902 | |||||||
| Natural variant | 2258 | 1 | C → R in MFS. Ref.40 | VAR_002339 | |||||||
| Natural variant | 2269 | 1 | I → T in MFS. Ref.49 | VAR_018033 | |||||||
| Natural variant | 2278 | 1 | P → S: dbSNP rs363835. | VAR_055734 | |||||||
| Natural variant | 2282 | 1 | R → W in MFS. Ref.40 Ref.48 | VAR_002340 | |||||||
| Natural variant | 2307 | 1 | C → S in MFS. Ref.20 Ref.21 | VAR_002341 | |||||||
| Natural variant | 2329 | 1 | D → E: dbSNP rs363831. | VAR_055735 | |||||||
| Natural variant | 2335 | 1 | R → W in MFS. Ref.49 | VAR_018034 | |||||||
| Natural variant | 2339 | 1 | C → Y in EL; patient presenting also flat corneas. Ref.49 | VAR_018035 | |||||||
| Natural variant | 2385 | 1 | A → T in MFS. Ref.54 | VAR_023903 | |||||||
| Natural variant | 2406 | 1 | C → Y in MFS. Ref.48 | VAR_018036 | |||||||
| Natural variant | 2442 | 1 | C → W in MFS. Ref.52 | VAR_018037 | |||||||
| Natural variant | 2447 | 1 | E → K in EL. Ref.26 | VAR_002342 | |||||||
| Natural variant | 2474 | 1 | Y → C in MFS. Ref.50 | VAR_018038 | |||||||
| Natural variant | 2489 | 1 | C → R in MFS. Ref.40 | VAR_002343 | |||||||
| Natural variant | 2500 | 1 | C → R in MFS. Ref.54 | VAR_023904 | |||||||
| Natural variant | 2500 | 1 | C → Y in MFS. Ref.54 | VAR_023905 | |||||||
| Natural variant | 2511 | 1 | C → R in MFS. Ref.31 | VAR_002344 | |||||||
| Natural variant | 2535 | 1 | C → W in MFS. Ref.54 | VAR_023906 | |||||||
| Natural variant | 2536 | 1 | G → R in MFS. Ref.55 | VAR_023907 | |||||||
| Natural variant | 2570 | 1 | E → K in MFS. Ref.54 | VAR_023908 | |||||||
| Natural variant | 2571 | 1 | C → R in MFS. Ref.54 | VAR_023909 | |||||||
| Natural variant | 2581 | 1 | C → F in MFS. Ref.48 | VAR_018039 | |||||||
| Natural variant | 2585 | 1 | I → T in MFS. Ref.48 Ref.52 | VAR_018040 | |||||||
| Natural variant | 2592 | 1 | C → S in MFS. Ref.54 | VAR_023910 | |||||||
| Natural variant | 2605 | 1 | C → R in MFS. Ref.55 | VAR_023911 | |||||||
| Natural variant | 2605 | 1 | C → Y in MFS. Ref.55 | VAR_023912 | |||||||
| Natural variant | 2610 | 1 | E → K in MFS. Ref.54 | VAR_023913 | |||||||
| Natural variant | 2618 | 1 | G → R in MFS. Ref.48 | VAR_018041 | |||||||
| Natural variant | 2623 | 1 | H → P in MFS. Ref.52 | ||||||||