ID FBN1_HUMAN Reviewed; 2871 AA. AC P35555; B2RUU0; D2JYH6; Q15972; Q75N87; DT 01-JUN-1994, integrated into UniProtKB/Swiss-Prot. DT 10-APR-2019, sequence version 4. DT 27-MAR-2024, entry version 255. DE RecName: Full=Fibrillin-1 {ECO:0000303|PubMed:15221638}; DE Contains: DE RecName: Full=Asprosin {ECO:0000303|PubMed:27087445}; DE Flags: Precursor; GN Name=FBN1 {ECO:0000312|HGNC:HGNC:3603}; Synonyms=FBN; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [MRNA]. RC TISSUE=Placenta; RX PubMed=8364578; DOI=10.1093/hmg/2.7.961; RA Pereira L.V., D'Alessio M., Ramirez F., Lynch J.R., Sykes B., RA Pangilinan T., Bonadio J.; RT "Genomic organization of the sequence coding for fibrillin, the defective RT gene product in Marfan syndrome."; RL Hum. Mol. Genet. 2:961-968(1993). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT MFS SER-2663, AND VARIANT RP CYS-472. RX PubMed=15221638; DOI=10.1007/s10038-004-0168-x; RA Uyeda T., Takahashi T., Eto S., Sato T., Xu G., Kanezaki R., Toki T., RA Yonesaka S., Ito E.; RT "Three novel mutations of the fibrillin-1 gene and ten single nucleotide RT polymorphisms of the fibrillin-3 gene in Marfan syndrome patients."; RL J. Hum. Genet. 49:404-407(2004). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RA Rieder M.J., Bertucci C., Stanaway I.B., Johnson E.J., Swanson J.E., RA Siegel D.L., da Ponte S.H., Igartua C., Patterson K., Nickerson D.A.; RL Submitted (SEP-2009) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16572171; DOI=10.1038/nature04601; RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S., RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.; RT "Analysis of the DNA sequence and duplication history of human chromosome RT 15."; RL Nature 440:671-675(2006). RN [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [7] RP NUCLEOTIDE SEQUENCE [MRNA], AND NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-55. RC TISSUE=Fibroblast, and Placenta; RX PubMed=7691719; DOI=10.1006/geno.1993.1350; RA Corson G.M., Chalberg S.C., Dietz H.C., Charbonneau N.L., Sakai L.Y.; RT "Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain RT structure and alternatively spliced exons at the 5' end."; RL Genomics 17:476-484(1993). RN [8] RP NUCLEOTIDE SEQUENCE [MRNA] OF 899-2871. RX PubMed=1852207; DOI=10.1038/352334a0; RA Maslen C.L., Corson G.M., Maddox B.K., Glanville R.W., Sakai L.Y.; RT "Partial sequence of a candidate gene for the Marfan syndrome."; RL Nature 352:334-337(1991). RN [9] RP NUCLEOTIDE SEQUENCE [MRNA] OF 813-1313. RX PubMed=1852206; DOI=10.1038/352330a0; RA Lee B., Godfrey M., Vitale E., Hori H., Mattei M.-G., Sarfarazi M., RA Tsipouras P., Ramirez F., Hollister D.W.; RT "Linkage of Marfan syndrome and a phenotypically related disorder to two RT different fibrillin genes."; RL Nature 352:330-334(1991). RN [10] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 2086-2194. RX PubMed=8430317; DOI=10.1126/science.8430317; RA Dietz H.C., Valle D., Francomano C.A., Kendzior R.J. Jr., Pyeritz R.E., RA Cutting G.R.; RT "The skipping of constitutive exons in vivo induced by nonsense RT mutations."; RL Science 259:680-683(1993). RN [11] RP PROTEIN SEQUENCE OF 25-36 AND 45-56, AND CLEAVAGE OF SIGNAL PEPTIDE AFTER RP GLY-24. RX PubMed=10636927; DOI=10.1074/jbc.275.3.2205; RA Reinhardt D.P., Gambee J.E., Ono R.N., Baechinger H.P., Sakai L.Y.; RT "Initial steps in assembly of microfibrils. Formation of disulfide-cross- RT linked multimers containing fibrillin-1."; RL J. Biol. Chem. 275:2205-2210(2000). RN [12] RP PROTEIN SEQUENCE OF 2732-2746, PROTEOLYTIC PROCESSING, MUTAGENESIS OF RP ARG-2728; ARG-2731 AND SER-2732, AND CHARACTERIZATION OF VARIANT TRP-2726. RX PubMed=9817919; DOI=10.1093/hmg/7.13.2039; RA Loennqvist L., Reinhardt D., Sakai L., Peltonen L.; RT "Evidence for furin-type activity-mediated C-terminal processing of RT profibrillin-1 and interference in the processing by certain mutations."; RL Hum. Mol. Genet. 7:2039-2044(1998). RN [13] RP INVOLVEMENT IN OCTD. RX PubMed=2739055; DOI=10.1001/jama.262.4.523; RA Glesby M.J., Pyeritz R.E.; RT "Association of mitral valve prolapse and systemic abnormalities of RT connective tissue: a phenotypic continuum."; RL JAMA 262:523-528(1989). RN [14] RP FUNCTION. RX PubMed=1860873; DOI=10.1016/s0021-9258(18)98752-1; RA Sakai L.Y., Keene D.R., Glanville R.W., Bachinger H.P.; RT "Purification and partial characterization of fibrillin, a cysteine-rich RT structural component of connective tissue microfibrils."; RL J. Biol. Chem. 266:14763-14770(1991). RN [15] RP HEPARIN-BINDING, N-TERMINAL REGION DOMAIN, C-TERMINAL REGION DOMAIN, AND RP SUBCELLULAR LOCATION. RX PubMed=11461921; DOI=10.1074/jbc.m104985200; RA Tiedemann K., Baetge B., Mueller P.K., Reinhardt D.P.; RT "Interactions of fibrillin-1 with heparin/heparan sulfate, implications for RT microfibrillar assembly."; RL J. Biol. Chem. 276:36035-36042(2001). RN [16] RP FUNCTION, CELL ATTACHMENT SITE, MUTAGENESIS OF GLY-1542, AND INTERACTION RP WITH ITGA5; ITGAV; ITGB1 AND ITGB3. RX PubMed=12807887; DOI=10.1074/jbc.m303159200; RA Bax D.V., Bernard S.E., Lomas A., Morgan A., Humphries J., RA Shuttleworth C.A., Humphries M.J., Kielty C.M.; RT "Cell adhesion to fibrillin-1 molecules and microfibrils is mediated by RT alpha 5 beta 1 and alpha v beta 3 integrins."; RL J. Biol. Chem. 278:34605-34616(2003). RN [17] RP INTERACTION WITH MFAP2 AND MFAP5. RX PubMed=15131124; DOI=10.1074/jbc.m313672200; RA Hanssen E., Hew F.H., Moore E., Gibson M.A.; RT "MAGP-2 has multiple binding regions on fibrillins and has covalent RT periodic association with fibrillin-containing microfibrils."; RL J. Biol. Chem. 279:29185-29194(2004). RN [18] RP INTERACTION WITH COL16A1. RX PubMed=15165854; DOI=10.1016/j.jmb.2004.03.042; RA Kassner A., Tiedemann K., Notbohm H., Ludwig T., Morgelin M., RA Reinhardt D.P., Chu M.-L., Bruckner P., Grassel S.; RT "Molecular structure and interaction of recombinant human type XVI RT collagen."; RL J. Mol. Biol. 339:835-853(2004). RN [19] RP INTERACTION WITH FBLN5 AND ELN. RX PubMed=15790312; DOI=10.1042/bj20050368; RA Freeman L.J., Lomas A., Hodson N., Sherratt M.J., Mellody K.T., Weiss A.S., RA Shuttleworth A., Kielty C.M.; RT "Fibulin-5 interacts with fibrillin-1 molecules and microfibrils."; RL Biochem. J. 388:1-5(2005). RN [20] RP FUNCTION, AND INTERACTION WITH ITGA5; ITGAV; ITGB1 AND ITGB6. RX PubMed=17158881; DOI=10.1074/jbc.m607008200; RA Jovanovic J., Takagi J., Choulier L., Abrescia N.G., Stuart D.I., RA van der Merwe P.A., Mardon H.J., Handford P.A.; RT "alphaVbeta6 is a novel receptor for human fibrillin-1. Comparative studies RT of molecular determinants underlying integrin-rgd affinity and RT specificity."; RL J. Biol. Chem. 282:6743-6751(2007). RN [21] RP INTERACTION WITH ELN; FBLN2; EFEMP2 AND FBLN5. RX PubMed=17255108; DOI=10.1074/jbc.m608204200; RA El-Hallous E., Sasaki T., Hubmacher D., Getie M., Tiedemann K., RA Brinckmann J., Baetge B., Davis E.C., Reinhardt D.P.; RT "Fibrillin-1 interactions with fibulins depend on the first hybrid domain RT and provide an adaptor function to tropoelastin."; RL J. Biol. Chem. 282:8935-8946(2007). RN [22] RP INTERACTION WITH LTBP1 AND LTBP2, AND TISSUE SPECIFICITY. RX PubMed=17293099; DOI=10.1016/j.matbio.2006.12.006; RA Hirani R., Hanssen E., Gibson M.A.; RT "LTBP-2 specifically interacts with the amino-terminal region of fibrillin- RT 1 and competes with LTBP-1 for binding to this microfibrillar protein."; RL Matrix Biol. 26:213-223(2007). RN [23] RP INTERACTION WITH BMP2; BMP4; BMP7; BMP10 AND GDF5. RX PubMed=18339631; DOI=10.1074/jbc.m707820200; RA Sengle G., Charbonneau N.L., Ono R.N., Sasaki T., Alvarez J., Keene D.R., RA Baechinger H.P., Sakai L.Y.; RT "Targeting of bone morphogenetic protein growth factor complexes to RT fibrillin."; RL J. Biol. Chem. 283:13874-13888(2008). RN [24] RP INTERACTION WITH EFEMP2. RX PubMed=19349279; DOI=10.1074/jbc.m809348200; RA Ono R.N., Sengle G., Charbonneau N.L., Carlberg V., Baechinger H.P., RA Sasaki T., Lee-Arteaga S., Zilberberg L., Rifkin D.B., Ramirez F., RA Chu M.L., Sakai L.Y.; RT "Latent transforming growth factor beta-binding proteins and fibulins RT compete for fibrillin-1 and exhibit exquisite specificities in binding RT sites."; RL J. Biol. Chem. 284:16872-16881(2009). RN [25] RP INTERACTION WITH EFEMP2. RX PubMed=19570982; DOI=10.1074/jbc.m109.019364; RA Choudhury R., McGovern A., Ridley C., Cain S.A., Baldwin A., Wang M.C., RA Guo C., Mironov A. Jr., Drymoussi Z., Trump D., Shuttleworth A., RA Baldock C., Kielty C.M.; RT "Differential regulation of elastic fiber formation by fibulin-4 and -5."; RL J. Biol. Chem. 284:24553-24567(2009). RN [26] RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-448; ASN-1067; ASN-1484 AND RP ASN-1581. RC TISSUE=Liver; RX PubMed=19159218; DOI=10.1021/pr8008012; RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.; RT "Glycoproteomics analysis of human liver tissue by combination of multiple RT enzyme digestion and hydrazide chemistry."; RL J. Proteome Res. 8:651-661(2009). RN [27] RP INVOLVEMENT IN MFLS (ASPROSIN). RX PubMed=20979188; DOI=10.1002/ajmg.a.33690; RA Graul-Neumann L.M., Kienitz T., Robinson P.N., Baasanjav S., Karow B., RA Gillessen-Kaesbach G., Fahsold R., Schmidt H., Hoffmann K., Passarge E.; RT "Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy RT associated with a novel frameshift mutation at the 3' terminus of the FBN1- RT gene."; RL Am. J. Med. Genet. A 152A:2749-2755(2010). RN [28] RP INVOLVEMENT IN MFLS (ASPROSIN). RX PubMed=21594992; DOI=10.1002/ajmg.a.33906; RA Goldblatt J., Hyatt J., Edwards C., Walpole I.; RT "Further evidence for a marfanoid syndrome with neonatal progeroid features RT and severe generalized lipodystrophy due to frameshift mutations near the RT 3' end of the FBN1 gene."; RL Am. J. Med. Genet. A 155A:717-720(2011). RN [29] RP INVOLVEMENT IN MFLS (ASPROSIN). RX PubMed=21594993; DOI=10.1002/ajmg.a.33905; RA Horn D., Robinson P.N.; RT "Progeroid facial features and lipodystrophy associated with a novel splice RT site mutation in the final intron of the FBN1 gene."; RL Am. J. Med. Genet. A 155A:721-724(2011). RN [30] RP INTERACTION WITH ADAMTS10. RX PubMed=21402694; DOI=10.1074/jbc.m111.231571; RA Kutz W.E., Wang L.W., Bader H.L., Majors A.K., Iwata K., Traboulsi E.I., RA Sakai L.Y., Keene D.R., Apte S.S.; RT "ADAMTS10 protein interacts with fibrillin-1 and promotes its deposition in RT extracellular matrix of cultured fibroblasts."; RL J. Biol. Chem. 286:17156-17167(2011). RN [31] RP INTERACTION WITH ADAMTSL5. RX PubMed=23010571; DOI=10.1016/j.matbio.2012.09.003; RA Bader H.L., Wang L.W., Ho J.C., Tran T., Holden P., Fitzgerald J., RA Atit R.P., Reinhardt D.P., Apte S.S.; RT "A disintegrin-like and metalloprotease domain containing thrombospondin RT type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and RT heparin-binding member of the ADAMTS superfamily containing a netrin-like RT module."; RL Matrix Biol. 31:398-411(2012). RN [32] RP FUNCTION, AND INTERACTION WITH TNFSF11. RX PubMed=24039232; DOI=10.1242/jcs.127571; RA Tiedemann K., Boraschi-Diaz I., Rajakumar I., Kaur J., Roughley P., RA Reinhardt D.P., Komarova S.V.; RT "Fibrillin-1 directly regulates osteoclast formation and function by a dual RT mechanism."; RL J. Cell Sci. 126:4187-4194(2013). RN [33] RP INVOLVEMENT IN MFLS (ASPROSIN), AND VARIANT MFLS THR-2741. RX PubMed=24665001; DOI=10.1002/ajmg.a.36449; RA Garg A., Xing C.; RT "De novo heterozygous FBN1 mutations in the extreme C-terminal region cause RT progeroid fibrillinopathy."; RL Am. J. Med. Genet. A 164A:1341-1345(2014). RN [34] RP INVOLVEMENT IN MFLS (ASPROSIN). RX PubMed=24039054; DOI=10.1002/ajmg.a.36157; RA Takenouchi T., Hida M., Sakamoto Y., Torii C., Kosaki R., Takahashi T., RA Kosaki K.; RT "Severe congenital lipodystrophy and a progeroid appearance: Mutation in RT the penultimate exon of FBN1 causing a recognizable phenotype."; RL Am. J. Med. Genet. A 161A:3057-3062(2013). RN [35] RP INVOLVEMENT IN MFLS (ASPROSIN). RX PubMed=24613577; DOI=10.1016/j.ejmg.2014.02.012; RA Jacquinet A., Verloes A., Callewaert B., Coremans C., Coucke P., RA de Paepe A., Kornak U., Lebrun F., Lombet J., Pierard G.E., Robinson P.N., RA Symoens S., Van Maldergem L., Debray F.G.; RT "Neonatal progeroid variant of Marfan syndrome with congenital RT lipodystrophy results from mutations at the 3' end of FBN1 gene."; RL Eur. J. Med. Genet. 57:230-234(2014). RN [36] RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-2702, AND IDENTIFICATION BY RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Liver; RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014; RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L., RA Ye M., Zou H.; RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver RT phosphoproteome."; RL J. Proteomics 96:253-262(2014). RN [37] RP SUBCELLULAR LOCATION, PROTEOLYTIC PROCESSING, AND CHARACTERIZATION OF RP VARIANTS 2776-ARG--LEU-2781 DEL; PRO-2780; 2849-TYR--HIS-2871 DEL AND RP 2867-GLN--HIS-2871 DEL. RX PubMed=24982166; DOI=10.1073/pnas.1401697111; RA Jensen S.A., Aspinall G., Handford P.A.; RT "C-terminal propeptide is required for fibrillin-1 secretion and blocks RT premature assembly through linkage to domains cbEGF41-43."; RL Proc. Natl. Acad. Sci. U.S.A. 111:10155-10160(2014). RN [38] RP PHOSPHORYLATION AT SER-2702. RX PubMed=26091039; DOI=10.1016/j.cell.2015.05.028; RA Tagliabracci V.S., Wiley S.E., Guo X., Kinch L.N., Durrant E., Wen J., RA Xiao J., Cui J., Nguyen K.B., Engel J.L., Coon J.J., Grishin N., RA Pinna L.A., Pagliarini D.J., Dixon J.E.; RT "A single kinase generates the majority of the secreted phosphoproteome."; RL Cell 161:1619-1632(2015). RN [39] RP REVIEW. RX PubMed=27026396; DOI=10.1042/bj20151108; RA Jensen S.A., Handford P.A.; RT "New insights into the structure, assembly and biological roles of 10-12 nm RT connective tissue microfibrils from fibrillin-1 studies."; RL Biochem. J. 473:827-838(2016). RN [40] RP FUNCTION (ASPROSIN), SUBCELLULAR LOCATION (ASPROSIN), AND INVOLVEMENT IN RP MFLS (ASPROSIN). RX PubMed=27087445; DOI=10.1016/j.cell.2016.02.063; RA Romere C., Duerrschmid C., Bournat J., Constable P., Jain M., Xia F., RA Saha P.K., Del Solar M., Zhu B., York B., Sarkar P., Rendon D.A., RA Gaber M.W., LeMaire S.A., Coselli J.S., Milewicz D.M., Sutton V.R., RA Butte N.F., Moore D.D., Chopra A.R.; RT "Asprosin, a fasting-induced glucogenic protein hormone."; RL Cell 165:566-579(2016). RN [41] RP FUNCTION (ASPROSIN). RX PubMed=31230984; DOI=10.1016/j.cmet.2019.05.022; RA Li E., Shan H., Chen L., Long A., Zhang Y., Liu Y., Jia L., Wei F., Han J., RA Li T., Liu X., Deng H., Wang Y.; RT "OLFR734 mediates glucose metabolism as a receptor of asprosin."; RL Cell Metab. 30:319-328(2019). RN [42] RP INDUCTION (ASPROSIN). RX PubMed=31775140; DOI=10.1159/000503808; RA Wang M., Yin C., Wang L., Liu Y., Li H., Li M., Yi X., Xiao Y.; RT "Serum Asprosin Concentrations Are Increased and Associated with Insulin RT Resistance in Children with Obesity."; RL Ann. Nutr. Metab. 75:205-212(2019). RN [43] RP INDUCTION (ASPROSIN). RX PubMed=29104036; DOI=10.1016/j.cca.2017.10.034; RA Zhang L., Chen C., Zhou N., Fu Y., Cheng X.; RT "Circulating asprosin concentrations are increased in type 2 diabetes RT mellitus and independently associated with fasting glucose and RT triglyceride."; RL Clin. Chim. Acta 489:183-188(2019). RN [44] RP FUNCTION (ASPROSIN). RX PubMed=30853600; DOI=10.1016/j.mce.2019.03.001; RA Lee T., Yun S., Jeong J.H., Jung T.W.; RT "Asprosin impairs insulin secretion in response to glucose and viability RT through TLR4/JNK-mediated inflammation."; RL Mol. Cell. Endocrinol. 486:96-104(2019). RN [45] RP BIOTECHNOLOGY (ASPROSIN). RX PubMed=33904407; DOI=10.7554/elife.63784; RA Mishra I., Duerrschmid C., Ku Z., He Y., Xie W., Silva E.S., Hoffman J., RA Xin W., Zhang N., Xu Y., An Z., Chopra A.R.; RT "Asprosin-neutralizing antibodies as a treatment for metabolic syndrome."; RL Elife 10:0-0(2021). RN [46] RP INVOLVEMENT IN MFLS (ASPROSIN). RX PubMed=26860060; DOI=10.1038/ejhg.2016.6; RA Passarge E., Robinson P.N., Graul-Neumann L.M.; RT "Marfanoid-progeroid-lipodystrophy syndrome: a newly recognized RT fibrillinopathy."; RL Eur. J. Hum. Genet. 24:1244-1247(2016). RN [47] RP INTERACTION WITH MFAP4. RX PubMed=26601954; DOI=10.1074/jbc.m115.681775; RA Pilecki B., Holm A.T., Schlosser A., Moeller J.B., Wohl A.P., Zuk A.V., RA Heumueller S.E., Wallis R., Moestrup S.K., Sengle G., Holmskov U., RA Sorensen G.L.; RT "Characterization of microfibrillar-associated protein 4 (MFAP4) as a RT tropoelastin- and fibrillin-binding protein involved in elastic fiber RT formation."; RL J. Biol. Chem. 291:1103-1114(2016). RN [48] RP GLYCOSYLATION AT SER-268; SER-471; SER-510; SER-552; SER-593; SER-634; RP SER-787; SER-827; SER-1050; SER-1135; SER-1218; SER-1302; SER-1345; RP SER-1386; SER-1508; SER-1628; SER-1830; SER-1871; SER-1911; SER-1953; RP SER-2035; SER-2148; SER-2227; SER-2313; SER-2465; SER-2547 AND SER-2628, RP AND SUBCELLULAR LOCATION. RX PubMed=34411563; DOI=10.1016/j.jbc.2021.101055; RA Williamson D.B., Sohn C.J., Ito A., Haltiwanger R.S.; RT "POGLUT2 and POGLUT3 O-glucosylate multiple EGF repeats in fibrillin-1, -2, RT and LTBP1 and promote secretion of fibrillin-1."; RL J. Biol. Chem. 297:101055-101055(2021). RN [49] RP STRUCTURE BY NMR OF 2054-2125, AND DISULFIDE BONDS. RX PubMed=9362480; DOI=10.1093/emboj/16.22.6659; RA Yuan X., Downing A.K., Knott V., Handford P.A.; RT "Solution structure of the transforming growth factor beta-binding protein- RT like module, a domain associated with matrix fibrils."; RL EMBO J. 16:6659-6666(1997). RN [50] RP STRUCTURE BY NMR OF 2124-2205. RX PubMed=8568869; DOI=10.1006/jmbi.1996.0003; RA Knott V., Downing A.K., Cardy C.M., Handford P.A.; RT "Calcium binding properties of an epidermal growth factor-like domain pair RT from human fibrillin-1."; RL J. Mol. Biol. 255:22-27(1996). RN [51] RP STRUCTURE BY NMR OF 2124-2205. RX PubMed=8653794; DOI=10.1016/s0092-8674(00)81259-3; RA Downing A.K., Knott V., Werner J.M., Cardy C.M., Campbell I.D., RA Handford P.A.; RT "Solution structure of a pair of calcium-binding epidermal growth factor- RT like domains: implications for the Marfan syndrome and other genetic RT disorders."; RL Cell 85:597-605(1996). RN [52] RP STRUCTURE BY NMR OF 1069-1154 IN COMPLEX WITH CALCIUM, AND DISULFIDE BONDS. RX PubMed=12511552; DOI=10.1074/jbc.m208266200; RA Smallridge R.S., Whiteman P., Werner J.M., Campbell I.D., Handford P.A., RA Downing A.K.; RT "Solution structure and dynamics of a calcium binding epidermal growth RT factor-like domain pair from the neonatal region of human fibrillin-1."; RL J. Biol. Chem. 278:12199-12206(2003). RN [53] RP X-RAY CRYSTALLOGRAPHY (1.35 ANGSTROMS) OF 1486-1647 IN COMPLEX WITH CALCIUM RP IONS, FUNCTION, INTERACTION WITH INTEGRIN ALPHA-V/BETA-3, AND DISULFIDE RP BONDS. RX PubMed=15062093; DOI=10.1016/j.str.2004.02.023; RA Lee S.S., Knott V., Jovanovic J., Harlos K., Grimes J.M., Choulier L., RA Mardon H.J., Stuart D.I., Handford P.A.; RT "Structure of the integrin binding fragment from fibrillin-1 gives new RT insights into microfibril organization."; RL Structure 12:717-729(2004). RN [54] RP X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 807-951 IN COMPLEX WITH CALCIUM, RP AND DISULFIDE BONDS. RX PubMed=19446531; DOI=10.1016/j.str.2009.03.014; RA Jensen S.A., Iqbal S., Lowe E.D., Redfield C., Handford P.A.; RT "Structure and interdomain interactions of a hybrid domain: a disulphide- RT rich module of the fibrillin/LTBP superfamily of matrix proteins."; RL Structure 17:759-768(2009). RN [55] RP STRUCTURE BY NMR OF 45-178, AND DISULFIDE BONDS. RX PubMed=24035709; DOI=10.1016/j.str.2013.08.004; RA Yadin D.A., Robertson I.B., McNaught-Davis J., Evans P., Stoddart D., RA Handford P.A., Jensen S.A., Redfield C.; RT "Structure of the fibrillin-1 N-terminal domains suggests that heparan RT sulfate regulates the early stages of microfibril assembly."; RL Structure 21:1743-1756(2013). RN [56] RP REVIEW ON MFS VARIANTS. RX PubMed=8594563; DOI=10.1093/nar/24.1.137; RA Collod G., Beroud C., Soussi T., Junien C., Boileau C.; RT "Software and database for the analysis of mutations in the human FBN1 RT gene."; RL Nucleic Acids Res. 24:137-141(1996). RN [57] RP REVIEW ON MFS. RX PubMed=10633129; DOI=10.1136/jmg.37.1.9; RA Robinson P.N., Godfrey M.; RT "The molecular genetics of Marfan syndrome and related RT microfibrillopathies."; RL J. Med. Genet. 37:9-25(2000). RN [58] RP REVIEW ON VARIANTS. RX PubMed=12203987; DOI=10.1002/humu.10113; RA Robinson P.N., Booms P., Katzke S., Ladewig M., Neumann L., Palz M., RA Pregla R., Tiecke F., Rosenberg T.; RT "Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome RT and related fibrillinopathies."; RL Hum. Mutat. 20:153-161(2002). RN [59] RP VARIANT MFS PRO-1137. RX PubMed=1852208; DOI=10.1038/352337a0; RA Dietz H.C., Cutting G.R., Pyeritz R.E., Maslen C.L., Sakai L.Y., RA Corson G.M., Puffenberger E.G., Hamosh A., Nanthakumar E.J., RA Curristin S.M., Stetten G., Meyers D.A., Francomano C.A.; RT "Marfan syndrome caused by a recurrent de novo missense mutation in the RT fibrillin gene."; RL Nature 352:337-339(1991). RN [60] RP VARIANTS MFS SER-1249; ARG-1663; SER-2221 AND SER-2307. RX PubMed=1301946; DOI=10.1002/humu.1380010504; RA Dietz H.C., Saraiva J.M., Pyeritz R.E., Cutting G.R., Francomano C.A.; RT "Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome RT patients at cysteine residues in EGF-like domains."; RL Hum. Mutat. 1:366-374(1992). RN [61] RP VARIANT MFS SER-2307. RX PubMed=1569206; DOI=10.1172/jci115766; RA Dietz H.C., Pyeritz R.E., Puffenberger E.G., Kendzior R.J. Jr., RA Corson G.M., Maslen C.L., Sakai L.Y., Francomano C.A., Cutting G.R.; RT "Marfan phenotype variability in a family segregating a missense mutation RT in the epidermal growth factor-like motif of the fibrillin gene."; RL J. Clin. Invest. 89:1674-1680(1992). RN [62] RP VARIANTS MFS ILE-548 AND ALA-723. RX PubMed=8406497; DOI=10.1006/geno.1993.1349; RA Dietz H.C., McIntosh I., Sakai L.Y., Corson G.M., Chalberg S.C., RA Pyeritz R.E., Francomano C.A.; RT "Four novel FBN1 mutations: significance for mutant transcript level and RT EGF-like domain calcium binding in the pathogenesis of Marfan syndrome."; RL Genomics 17:468-475(1993). RN [63] RP VARIANT MFS SER-2144. RX PubMed=8504310; DOI=10.1093/hmg/2.4.475; RA Hewett D.R., Lynch J.R., Smith R., Sykes B.C.; RT "A novel fibrillin mutation in the Marfan syndrome which could disrupt RT calcium binding of the epidermal growth factor-like module."; RL Hum. Mol. Genet. 2:475-477(1993). RN [64] RP VARIANTS MFS ARG-862; TYR-1117; PRO-1137 AND PHE-1589, AND VARIANT RP ALA-1148. RX PubMed=8281141; DOI=10.1093/hmg/2.11.1813; RA Tynan K., Comeau K., Pearson M., Wilgenbus P., Levitt D., Gasner C., RA Berg M.A., Miller D.C., Francke U.; RT "Mutation screening of complete fibrillin-1 coding sequence: report of five RT new mutations, including two in 8-cysteine domains."; RL Hum. Mol. Genet. 2:1813-1821(1993). RN [65] RP VARIANTS MFS GLY-217 AND ARG-2627. RX PubMed=7977366; RA Karttunen L., Raghunath M., Loennqvist L., Peltonen L.; RT "A compound-heterozygous Marfan patient: two defective fibrillin alleles RT result in a lethal phenotype."; RL Am. J. Hum. Genet. 55:1083-1091(1994). RN [66] RP VARIANT ECTOL1 LYS-2447. RX PubMed=8188302; DOI=10.1006/geno.1994.1110; RA Lonnqvist L., Child A., Kainulainen K., Davidson R., Puhakka L., RA Peltonen L.; RT "A novel mutation of the fibrillin gene causing ectopia lentis."; RL Genomics 19:573-576(1994). RN [67] RP VARIANT MFS CYS-627. RX PubMed=8004112; DOI=10.1093/hmg/3.2.373; RA Hayward C., Rae A.L., Porteous M.E.M., Logie L.J., Brock L.J.; RT "Two novel mutations and a neutral polymorphism in EGF-like domains of the RT fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome RT patients."; RL Hum. Mol. Genet. 3:373-375(1994). RN [68] RP VARIANT MFS GLY-476. RX PubMed=7951214; DOI=10.1093/hmg/3.6.1013; RA Piersall L.D., Dietz H.C., Hall B.D., Cadle R.G., Pyeritz R.E., RA Francomano C.A., McIntosh I.; RT "Substitution of a cysteine residue in a non-calcium binding, EGF-like RT domain of fibrillin segregates with the Marfan syndrome in a large RT kindred."; RL Hum. Mol. Genet. 3:1013-1014(1994). RN [69] RP VARIANT 2776-ARG--LEU-2781 DEL. RX PubMed=7911051; DOI=10.1002/humu.1380030212; RA Hayward C., Porteous M.E., Brock D.J.; RT "Identification of a novel nonsense mutation in the fibrillin gene (FBN1) RT using nonisotopic techniques."; RL Hum. Mutat. 3:159-162(1994). RN [70] RP VARIANT MFS CYS-122. RX PubMed=8040326; DOI=10.1172/jci117389; RA Stahl-Hallengren C., Ukkonen T., Kainulainen K., Kristofersson U., RA Saxne T., Tornqvist K., Peltonen L.; RT "An extra cysteine in one of the non-calcium-binding epidermal growth RT factor-like motifs of the FBN1 polypeptide is connected to a novel variant RT of Marfan syndrome."; RL J. Clin. Invest. 94:709-713(1994). RN [71] RP VARIANT MFS TYR-1223. RX PubMed=8071963; DOI=10.1136/jmg.31.4.338; RA Hewett D.R., Lynch J.R., Child A., Sykes B.C.; RT "A new missense mutation of fibrillin in a patient with Marfan syndrome."; RL J. Med. Genet. 31:338-339(1994). RN [72] RP VARIANT MFS HIS-1170. RX PubMed=7870075; DOI=10.1006/mcpr.1994.1045; RA Hayward C., Porteous M.E.M., Brock D.J.H.; RT "A novel mutation in the fibrillin gene (FBN1) in familial RT arachnodactyly."; RL Mol. Cell. Probes 8:325-327(1994). RN [73] RP VARIANTS MFS GLY-217; ASN-1023; ARG-1074; TYR-1242; ARG-1513; GLU-2127; RP TRP-2151; LYS-2447 AND ARG-2511. RX PubMed=8136837; DOI=10.1038/ng0194-64; RA Kainulainen K., Karttunen L., Puhakka L., Sakai L., Peltonen L.; RT "Mutations in the fibrillin gene responsible for dominant ectopia lentis RT and neonatal Marfan syndrome."; RL Nat. Genet. 6:64-69(1994). RN [74] RP VARIANT MFS SER-1127. RX PubMed=7762551; RA Francke U., Berg M.A., Tynan K., Brenn T., Liu W., Aoyama T., Gasner C., RA Miller D.C., Furthmayr H.; RT "A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a RT risk factor for ascending aortic aneurysm and dissection."; RL Am. J. Hum. Genet. 56:1287-1296(1995). RN [75] RP VARIANTS MFS TYR-129; PHE-166; CYS-746; ARG-926; ARG-1013; LYS-1073; RP SER-1382 AND ARG-1928. RX PubMed=7611299; RA Nijbroek G., Sood S., McIntosh I., Francomano C.A., Bull E., Pereira L., RA Ramirez F., Pyeritz R.E., Dietz H.C.; RT "Fifteen novel FBN1 mutations causing Marfan syndrome detected by RT heteroduplex analysis of genomic amplicons."; RL Am. J. Hum. Genet. 57:8-21(1995). RN [76] RP VARIANT MFS TYR-1223. RA Dietz H.C., Sood I., McIntosh I.; RT "The phenotypic continuum associated with FBN1 mutations includes the RT Shprintzen-Goldberg syndrome."; RL Am. J. Hum. Genet. 57:A211-A211(1995). RN [77] RP VARIANT TRP-2726, CHARACTERIZATION OF VARIANT TRP-2726, AND INVOLVEMENT IN RP MFS. RX PubMed=7738200; DOI=10.1172/jci117930; RA Milewicz D.M., Grossfield J., Cao S.-N., Kielty C., Covitz W., Jewett T.; RT "A mutation in FBN1 disrupts profibrillin processing and results in RT isolated skeletal features of the Marfan syndrome."; RL J. Clin. Invest. 95:2373-2378(1995). RN [78] RP VARIANTS MFS ARG-1053; GLY-1072; LYS-1073 AND GLY-1117. RX PubMed=8882780; RX DOI=10.1002/(sici)1096-8628(19960329)62:3<233::aid-ajmg7>3.0.co;2-u; RA Putnam E.A., Cho M., Zinn A.B., Towbin J.A., Byers P.H., Milewicz D.M.; RT "Delineation of the Marfan phenotype associated with mutations in exons 23- RT 32 of the FBN1 gene."; RL Am. J. Med. Genet. 62:233-242(1996). RN [79] RP VARIANTS MFS THR-705; TYR-711; GLY-1055 AND TYR-1153. RX PubMed=8863159; DOI=10.1136/jmg.33.8.665; RA Ades L.C., Haan E.A., Colley A.F., Richards R.I.; RT "Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan RT syndrome."; RL J. Med. Genet. 33:665-671(1996). RN [80] RP VARIANT MFS TYR-587. RX PubMed=9254848; DOI=10.1007/s004390050489; RA Booms P., Withers A.P., Boxer M., Kaufmann U.C., Hagemeier C., Vetter U., RA Robinson P.N.; RT "A novel de novo mutation in exon 14 of the fibrillin-1 gene associated RT with delayed secretion of fibrillin in a patient with a mild Marfan RT phenotype."; RL Hum. Genet. 100:195-200(1997). RN [81] RP VARIANT ALA-1148. RX PubMed=9150726; DOI=10.1007/s004390050414; RA Schrijver I., Liu W., Francke U.; RT "The pathogenicity of the Pro1148Ala substitution in the FBN1 gene: causing RT or predisposing to Marfan syndrome and aortic aneurysm, or clinically RT innocent?"; RL Hum. Genet. 99:607-611(1997). RN [82] RP VARIANTS MFS ARG-111; CYS-545; CYS-627; GLY-750; ARG-1074; HIS-1170; RP TRP-1171; LYS-1173; TYR-1404; GLY-1610; LYS-1893; TRP-2099; TYR-2111; RP ARG-2258; TRP-2282 AND ARG-2489. RX PubMed=9338581; RX DOI=10.1002/(sici)1098-1004(1997)10:4<280::aid-humu3>3.0.co;2-l; RA Hayward C., Porteous M.E.M., Brock D.J.H.; RT "Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients RT with Marfan syndrome: report of 12 novel mutations."; RL Hum. Mutat. 10:280-289(1997). RN [83] RP VARIANT ALA-1148. RX PubMed=9338588; RX DOI=10.1002/(sici)1098-1004(1997)10:4<326::aid-humu10>3.0.co;2-1; RA Watanabe Y., Yano S., Koga Y., Yukizane S., Nishiyori A., Yoshino M., RA Kato H.; RT "P1148A in fibrillin-1 is not a mutation leading to Shprintzen-Goldberg RT syndrome."; RL Hum. Mutat. 10:326-327(1997). RN [84] RP VARIANTS MFS ARG-996; THR-1048; THR-1048 DEL; CYS-1058 INS; TRP-1086; RP SER-1837 AND CYS-2680. RX PubMed=9401003; RX DOI=10.1002/(sici)1098-1004(1997)10:6<415::aid-humu1>3.0.co;2-c; RA Hayward C., Brock D.J.H.; RT "Fibrillin-1 mutations in Marfan syndrome and other type-1 RT fibrillinopathies."; RL Hum. Mutat. 10:415-423(1997). RN [85] RP VARIANT ALA-1148. RX PubMed=8988160; DOI=10.1038/ng0197-12; RA Wang M., Mathews K.R., Imaizumi K., Beiraghi S., Blumberg B., Scheuner M., RA Graham J.M. Jr., Godfrey M.; RT "P1148A in fibrillin-1 is not a mutation anymore."; RL Nat. Genet. 15:12-12(1997). RN [86] RP VARIANTS MFS ARG-661; ARG-1043 AND ARG-2511. RX PubMed=9016526; DOI=10.1093/nar/25.1.147; RA Collod-Beroud G., Beroud C., Ades L., Black C., Boxer M., Brock D.J., RA Godfrey M., Hayward C., Karttunen L., Milewicz D., Peltonen L., RA Richards R.I., Wang W., Junien C., Boileau C.; RT "Marfan Database (second edition): software and database for the analysis RT of mutations in the human FBN1 gene."; RL Nucleic Acids Res. 25:147-150(1997). RN [87] RP VARIANT MFS ARG-1265. RX PubMed=9837823; DOI=10.1086/302144; RA Montgomery R.A., Geraghty M.T., Bull E., Gelb B.D., Johnson M., RA McIntosh I., Francomano C.A., Dietz H.C.; RT "Multiple molecular mechanisms underlying subdiagnostic variants of Marfan RT syndrome."; RL Am. J. Hum. Genet. 63:1703-1711(1998). RN [88] RP VARIANT MFS CYS-122. RX PubMed=9452085; DOI=10.1002/humu.1380110164; RA Black C., Withers A.P., Gray J.R., Bridges A.B., Craig A., Baty D.U., RA Boxer M.; RT "Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial RT Marfan syndrome phenotype."; RL Hum. Mutat. Suppl. 1:S198-S200(1998). RN [89] RP VARIANT MFS ILE-984. RX PubMed=10694921; RX DOI=10.1002/(sici)1098-1004(1998)12:2%3c137::aid-humu14%3e3.0.co;2-p; RA Grau U., Klein H.-G., Detter C., Mair H., Welz A., Seidel D., Reichart B.; RT "A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene RT associated with a classical phenotype of Marfan syndrome (MfS)."; RL Hum. Mutat. 12:137-137(1998). RN [90] RP VARIANT MFS GLU-985. RX PubMed=10441597; DOI=10.1086/302545; RA Collod-Beroud G., Lackmy-Port-Lys M., Jondeau G., Mathieu M., Maingourd Y., RA Coulon M., Guillotel M., Junien C., Boileau C.; RT "Demonstration of the recurrence of Marfan-like skeletal and cardiovascular RT manifestations due to germline mosaicism for an FBN1 mutation."; RL Am. J. Hum. Genet. 65:917-921(1999). RN [91] RP VARIANTS MFS PHE-504; TYR-1129; CYS-1261; SER-1833 AND TYR-2142. RX PubMed=10425041; RX DOI=10.1002/(sici)1098-1004(1999)14:2<181::aid-humu10>3.0.co;2-6; RA El-Aleem A.A., Karck M., Haverich A., Schmidtke J., Arslan-Kirchner M.; RT "Identification of 9 novel FBN1 mutations in German patients with Marfan RT syndrome."; RL Hum. Mutat. 14:181-181(1999). RN [92] RP VARIANTS MFS PHE-89; CYS-122; CYS-240; CYS-366; CYS-545; SER-560; TYR-570; RP ASP-592; TRP-598; TYR-776; ARG-781; GLY-913; ARG-985; ARG-1013; TRP-1055; RP TYR-1055; CYS-1101; PRO-1337; TYR-1339; SER-1429; PRO-1790; TYR-1791; RP TYR-1835; THR-1909; SER-1915; TYR-1971; TYR-1977; HIS-2223; TRP-2282; RP TYR-2406; PHE-2581; THR-2585; ARG-2618; LYS-2624 AND CYS-2668, VARIANTS RP ECTOL1 CYS-1530 AND ARG-2154, AND VARIANT MITRAL VALVE PROLAPSE ILE-1128. RX PubMed=11700157; DOI=10.1001/archinte.161.20.2447; RA Loeys B., Nuytinck L., Delvaux I., De Bie S., De Paepe A.; RT "Genotype and phenotype analysis of 171 patients referred for molecular RT study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome."; RL Arch. Intern. Med. 161:2447-2454(2001). RN [93] RP VARIANTS MFS CYS-62; TYR-587; TYR-596; ASN-654; TYR-681; ARG-683; TRP-685; RP VAL-723; PHE-734; TYR-748; GLY-776; ARG-781; ARG-908; GLY-921; PRO-1790; RP SER-1806; VAL-1931 DEL; TYR-1998; GLY-2221; THR-2269 AND TRP-2335, VARIANTS RP ECTOL1 CYS-115; TYR-661 AND TYR-2339, AND VARIANT MET-2101. RX PubMed=12203992; DOI=10.1002/humu.10112; RA Katzke S., Booms P., Tiecke F., Palz M., Pletschacher A., Turkmen S., RA Neumann L.M., Pregla R., Leitner C., Schramm C., Lorenz P., Hagemeier C., RA Fuchs J., Skovby F., Rosenberg T., Robinson P.N.; RT "TGGE screening of the entire FBN1 coding sequence in 126 individuals with RT Marfan syndrome and related fibrillinopathies."; RL Hum. Mutat. 20:197-208(2002). RN [94] RP VARIANTS MFS 429-ARG--HIS-2871 DEL; ILE-449; SER-880; CYS-1101; TYR-1806; RP ILE-1908; ASP-1919 AND ARG-2251. RX PubMed=12402346; DOI=10.1002/humu.9075; RA Rommel K., Karck M., Haverich A., Schmidtke J., Arslan-Kirchner M.; RT "Mutation screening of the fibrillin-1 (FBN1) gene in 76 unrelated patients RT with Marfan syndrome or Marfanoid features leads to the identification of RT 11 novel and three previously reported mutations."; RL Hum. Mutat. 20:406-407(2002). RN [95] RP VARIANTS MFS CYS-114; ARG-890; GLY-1200; TYR-1835; ARG-2111; CYS-2474 AND RP GLY-2652, AND VARIANT ECTOL1 CYS-240. RX PubMed=11826022; DOI=10.1136/jmg.39.1.34; RA Koerkkoe J., Kaitila I., Loennqvist L., Peltonen L., Ala-Kokko L.; RT "Sensitivity of conformation sensitive gel electrophoresis in detecting RT mutations in Marfan syndrome and related conditions."; RL J. Med. Genet. 39:34-41(2002). RN [96] RP VARIANTS MFS CYS-627; ASN-654; TYR-748; 1541-ARG--HIS-2871 DEL; TYR-1835; RP ARG-1977; TYR-2258; 2394-ARG--HIS-2871 DEL; 2466-TYR--HIS-2871 DEL AND RP 2467-GLN--HIS-2871 DEL, AND VARIANT PRO-2780. RX PubMed=12161601; DOI=10.1136/jmg.39.8.589; RA Halliday D.J., Hutchinson S., Lonie L., Hurst J.A., Firth H., RA Handford P.A., Wordsworth P.; RT "Twelve novel FBN1 mutations in Marfan syndrome and Marfan related RT phenotypes test the feasibility of FBN1 mutation testing in clinical RT practice."; RL J. Med. Genet. 39:589-593(2002). RN [97] RP VARIANT WMS2 1692-ARG--TYR-1699 DEL. RX PubMed=12525539; DOI=10.1136/jmg.40.1.34; RA Faivre L., Gorlin R.J., Wirtz M.K., Godfrey M., Dagoneau N., Samples J.R., RA Le Merrer M., Collod-Beroud G., Boileau C., Munnich A., Cormier-Daire V.; RT "In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani RT syndrome."; RL J. Med. Genet. 40:34-36(2003). RN [98] RP VARIANTS MFS SER-154; SER-166; CYS-240; SER-652; THR-705; TYR-711; SER-816; RP ARG-1013; TYR-1044; GLY-1055; CYS-1101; TYR-1117; TYR-1153; ASN-1155; RP GLN-1325; LYS-1366; SER-1374; ARG-1389; 1394-GLY--THR-1396 DEL; ALA-1424; RP CYS-1530; TYR-1564; PHE-1770; TRP-1793; GLU-1796; TRP-2442; THR-2585 AND RP PRO-2623. RX PubMed=14695540; DOI=10.1002/humu.9207; RA Biggin A., Holman K., Brett M., Bennetts B., Ades L.; RT "Detection of thirty novel FBN1 mutations in patients with Marfan syndrome RT or a related fibrillinopathy."; RL Hum. Mutat. 23:99-99(2004). RN [99] RP CHARACTERIZATION OF VARIANTS MFS CYS-627; GLY-750 AND ARG-926. RX PubMed=15161917; DOI=10.1074/jbc.m405239200; RA Vollbrandt T., Tiedemann K., El-Hallous E., Lin G., Brinckmann J., John H., RA Baetge B., Notbohm H., Reinhardt D.P.; RT "Consequences of cysteine mutations in calcium-binding epidermal growth RT factor modules of fibrillin-1."; RL J. Biol. Chem. 279:32924-32931(2004). RN [100] RP VARIANTS MFS CYS-20; TYR-123; ARG-177; ARG-224; GLY-439; 629-VAL--GLY-633 RP DEL; CYS-635; ILE-636; TYR-832; GLY-890; ASP-1058; SER-1153; PHE-1211 DEL; RP CYS-1219; ASP-1261; SER-1278; SER-1333; ARG-1402; SER-1424; PHE-1564; RP GLY-1631; TYR-1663; TYR-1876; ILE-1887; ARG-1895; TYR-1900; PRO-2160; RP PHE-2221; THR-2385; ARG-2500; TYR-2500; TRP-2535; LYS-2570; ARG-2571; RP SER-2592; LYS-2610 AND CYS-2629. RX PubMed=16222657; DOI=10.1002/humu.9377; RA Arbustini E., Grasso M., Ansaldi S., Malattia C., Pilotto A., Porcu E., RA Disabella E., Marziliano N., Pisani A., Lanzarini L., Mannarino S., RA Larizza D., Mosconi M., Antoniazzi E., Zoia M.C., Meloni G., Magrassi L., RA Brega A., Bedeschi M.F., Torrente I., Mari F., Tavazzi L.; RT "Identification of sixty-two novel and twelve known FBN1 mutations in RT eighty-one unrelated probands with Marfan syndrome and other RT fibrillinopathies."; RL Hum. Mutat. 26:494-494(2005). RN [101] RP VARIANTS MFS ASN-507 DEL; TYR-541; CYS-627; TYR-781; ARG-985; ARG-1013; RP VAL-1113; GLY-1284; SER-1475; GLU-1475; THR-1576; ARG-1791; GLY-1928; RP TYR-1928; TYR-2038; ARG-2085; SER-2144; ARG-2536 AND TYR-2605. RX PubMed=16220557; DOI=10.1002/humu.20239; RA Rommel K., Karck M., Haverich A., von Kodolitsch Y., Rybczynski M., RA Muller G., Singh K.K., Schmidtke J., Arslan-Kirchner M.; RT "Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations RT and genotype-phenotype correlations in 76 patients with Marfan syndrome."; RL Hum. Mutat. 26:529-539(2005). RN [102] RP VARIANTS MFS CYS-122; SER-214; 248-ASP--HIS-2871 DEL; 351-GLN--HIS-2871 RP DEL; ARG-365; 366-TRP--HIS-2871 DEL; TRP-474; CYS-545; TRP-546; RP 565-ARG--HIS-2871 DEL; TYR-727; CYS-828; TYR-832; 861-ARG--HIS-2871 DEL; RP VAL-882; CYS-974; HIS-976; 994-GLU--HIS-2871 DEL; TYR-1032; THR-1048; RP TYR-1074; ILE-1088; 1125-ARG--HIS-2871 DEL; TYR-1138; 1140-CYS--HIS-2871 RP DEL; GLY-1158; HIS-1170; ARG-1223; ARG-1249; TYR-1307; ARG-1326; LEU-1346; RP LYS-1366; TYR-1402; ALA-1424; ASP-1427; ARG-1485; TYR-1528; RP 1541-ARG--HIS-2871 DEL; ARG-1622; TYR-1720; TYR-1793; VAL-1796; SER-1806; RP LYS-1811; CYS-1830; PHE-1835; TRP-1847; ASP-1879; ARG-1987; RP 2053-CYS--HIS-2871 DEL; MET-2118; GLU-2127; ASP-2144; PRO-2145; TYR-2153; RP THR-2185; 2220-ARG--HIS-2871 DEL; THR-2269; TRP-2274; LYS-2447; ARG-2489; RP MET-2520; ARG-2536; 2542-GLN--HIS-2871 DEL; VAL-2555; 2571-CYS--HIS-2871 RP DEL; TYR-2577; THR-2585; LYS-2610 AND ARG-2618, VARIANTS ECTOL1 CYS-63; RP SER-68; CYS-240; TRP-365; CYS-545; ARG-596; PRO-634; VAL-882; RP 1086-CYS--HIS-2871 DEL; ASN-1155; ARG-1692 DEL; GLY-2250; CYS-2272; RP LYS-2447 AND ARG-2448, AND VARIANTS ASP-127; ARG-160; SER-164; RP 215-ARG--HIS-2871 DEL; 364-ARG--HIS-2871 DEL; ARG-504; TYR-652; RP 653-VAL--HIS-2871 DEL; 752-SER--HIS-2871 DEL; CYS-954; 966-GLU--HIS-2871 RP DEL; 988-TRP--HIS-2871 DEL; GLY-1028; GLY-1406; SER-1633; RP 1644-ARG--HIS-2871 DEL; PHE-1777; 1796-GLY--HIS-2871 DEL; TYR-1812; RP SER-1907; HIS-1930; LYS-2105; ASP-2136; 2169-GLU--HIS-2871 DEL; ARG-2195; RP PRO-2224; 2229-GLU--HIS-2871 DEL; MET-2234; THR-2273; TRP-2289; TYR-2302; RP TYR-2365; TRP-2470; ILE-2516; SER-2526; PHE-2541; TRP-2554; TRP-2726 AND RP 2840-LYS--HIS-2871 DEL. RX PubMed=17657824; DOI=10.1002/humu.9505; RA Comeglio P., Johnson P., Arno G., Brice G., Evans A., Aragon-Martin J., RA da Silva F.P., Kiotsekoglou A., Child A.; RT "The importance of mutation detection in Marfan syndrome and Marfan-related RT disorders: report of 193 FBN1 mutations."; RL Hum. Mutat. 28:928-928(2007). RN [103] RP VARIANTS MFS TYR-123; SER-136; SER-177; TYR-177; SER-214; 348-GLN--HIS-2871 RP DEL; 429-ARG--HIS-2871 DEL; ARG-488; TYR-576; ARG-582; PHE-623; CYS-635; RP TYR-684; CYS-721; ARG-816; SER-880; GLU-884; TYR-1008; SER-1042; RP 1125-ARG--HIS-2871 DEL; 1136-TYR--HIS-2871 DEL; TRP-1182; TYR-1265; RP ARG-1320; 1534-CYS--HIS-2871 DEL; 1539-ARG--HIS-2871 DEL; RP 1541-ARG--HIS-2871 DEL; GLY-1631; ARG-1672; TYR-1672; GLY-1674; RP 1735-GLN--HIS-2871 DEL; LYS-1811; ARG-1847; TYR-1860; LYS-1894; TYR-1900; RP GLY-1934; TRP-1977; 2057-ARG--HIS-2871 DEL; 2062-TYR--HIS-2871 DEL; RP 2064-LYS--HIS-2871 DEL; TYR-2084; LYS-2130; ARG-2221; TYR-2232; THR-2269; RP THR-2284; TYR-2470; PRO-2561; LYS-2570; ARG-2577 AND 2694-ARG--HIS-2871 RP DEL, AND VARIANTS PRO-39; ARG-937; ALA-1020; TRP-2726 AND RP 2774-LYS--HIS-2871 DEL. RX PubMed=18435798; DOI=10.1111/j.1399-0004.2008.01007.x; RA Attanasio M., Lapini I., Evangelisti L., Lucarini L., Giusti B., RA Porciani M., Fattori R., Anichini C., Abbate R., Gensini G., Pepe G.; RT "FBN1 mutation screening of patients with Marfan syndrome and related RT disorders: detection of 46 novel FBN1 mutations."; RL Clin. Genet. 74:39-46(2008). RN [104] RP VARIANTS MFS ASP-57; TYR-100; TYR-129; 861-ARG--HIS-2871 DEL; HIS-910; RP 921-CYS--HIS-2871 DEL; PRO-1130; 1790-ARG--HIS-2871 DEL; ARG-1812; RP SER-1826; TRP-2084; LYS-2130; SER-2144; 2298-LYS--HIS-2871 DEL; TYR-2522 RP AND SER-2708. RX PubMed=19533785; DOI=10.1002/ajmg.a.32918; RA Chung B.H., Lam S.T., Tong T.M., Li S.Y., Lun K.S., Chan D.H., Fok S.F., RA Or J.S., Smith D.K., Yang W., Lau Y.L.; RT "Identification of novel FBN1 and TGFBR2 mutations in 65 probands with RT Marfan syndrome or Marfan-like phenotypes."; RL Am. J. Med. Genet. A 149A:1452-1459(2009). RN [105] RP VARIANT 2867-GLN--HIS-2871 DEL. RX PubMed=19293843; DOI=10.1038/ejhg.2009.36; RA Stheneur C., Collod-Beroud G., Faivre L., Buyck J.F., Gouya L., RA Le Parc J.M., Moura B., Muti C., Grandchamp B., Sultan G., Claustres M., RA Aegerter P., Chevallier B., Jondeau G., Boileau C.; RT "Identification of the minimal combination of clinical features in probands RT for efficient mutation detection in the FBN1 gene."; RL Eur. J. Hum. Genet. 17:1121-1128(2009). RN [106] RP VARIANT MFS GLY-1068. RX PubMed=20803651; DOI=10.1002/ajmg.a.33406; RA Barnett C.P., Wilson G.J., Chiasson D.A., Gross G.J., Hinek A., Hawkins C., RA Chitayat D.; RT "Central nervous system abnormalities in two cases with neonatal Marfan RT syndrome with novel mutations in the fibrillin-1 gene."; RL Am. J. Med. Genet. A 152:2409-2412(2010). RN [107] RP VARIANT 2849-TYR--HIS-2871 DEL. RX PubMed=21034599; RA Gao L.G., Zhang L., Song L., Wang H., Chang Q., Wu Y.B., Hui R.T., RA Zhou X.L.; RT "Identification of a novel lethal fibrillin-1 gene mutation in a Chinese RT Marfan family and correlation of 3' fibrillin-1 gene mutations with RT phenotype."; RL Chin. Med. J. 123:2874-2878(2010). RN [108] RP VARIANTS MFS 515-CYS-ARG-516 DELINS TRP-GLY AND CYS-1530. RX PubMed=19941982; DOI=10.1016/j.ejmg.2009.11.001; RA Villamizar C., Regalado E.S., Fadulu V.T., Hasham S.N., Gupta P., RA Willing M.C., Kuang S.Q., Guo D., Muilenburg A., Yee R.W., Fan Y., RA Towbin J., Coselli J.S., LeMaire S.A., Milewicz D.M.; RT "Paucity of skeletal manifestations in Hispanic families with FBN1 RT mutations."; RL Eur. J. Med. Genet. 53:80-84(2010). RN [109] RP VARIANT ALA-1148. RX PubMed=20547088; DOI=10.1016/j.legalmed.2010.04.001; RA Yuasa I., Umetsu K., Matsusue A., Nishimukai H., Harihara S., Fukumori Y., RA Saitou N., Jin F., Chattopadhyay P.K., Henke L., Henke J.; RT "A Japanese-specific allele in the GALNT11 gene."; RL Leg. Med. 12:208-211(2010). RN [110] RP VARIANTS SSKS SER-1564; CYS-1570; GLY-1577 AND ASP-1594. RX PubMed=20375004; DOI=10.1126/scitranslmed.3000488; RA Loeys B.L., Gerber E.E., Riegert-Johnson D., Iqbal S., Whiteman P., RA McConnell V., Chillakuri C.R., Macaya D., Coucke P.J., De Paepe A., RA Judge D.P., Wigley F., Davis E.C., Mardon H.J., Handford P., Keene D.R., RA Sakai L.Y., Dietz H.C.; RT "Mutations in fibrillin-1 cause congenital scleroderma: stiff skin RT syndrome."; RL Sci. Transl. Med. 2:23RA20-23RA20(2010). RN [111] RP VARIANTS GPHYSD2 CYS-1696; ASP-1699; CYS-1699; TYR-1706; TRP-1719; RP THR-1728; VAL-1728; TYR-1733 AND SER-1762, AND VARIANTS ACMICD CYS-1699; RP CYS-1700; ARG-1714; CYS-1722; VAL-1726; THR-1728; GLN-1735 INS; ARG-1750 RP AND VAL-1758. RX PubMed=21683322; DOI=10.1016/j.ajhg.2011.05.012; RA Le Goff C., Mahaut C., Wang L.W., Allali S., Abhyankar A., Jensen S., RA Zylberberg L., Collod-Beroud G., Bonnet D., Alanay Y., Brady A.F., RA Cordier M.P., Devriendt K., Genevieve D., Kiper P.O., Kitoh H., Krakow D., RA Lynch S.A., Le Merrer M., Megarbane A., Mortier G., Odent S., Polak M., RA Rohrbach M., Sillence D., Stolte-Dijkstra I., Superti-Furga A., RA Rimoin D.L., Topouchian V., Unger S., Zabel B., Bole-Feysot C., RA Nitschke P., Handford P., Casanova J.L., Boileau C., Apte S.S., Munnich A., RA Cormier-Daire V.; RT "Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are RT responsible for acromicric and geleophysic dysplasias."; RL Am. J. Hum. Genet. 89:7-14(2011). RN [112] RP VARIANTS MFS GLY-80; TYR-490; TYR-499; ARG-611; GLY-617; TRP-685; TYR-685; RP TYR-790; TYR-811; SER-853; TYR-926; SER-1090; ASP-1185; TYR-1284; PHE-1350; RP ALA-1401; TRP-1431; TYR-1431; ALA-1487; LYS-1489; CYS-1838; TYR-1900; RP THR-1909; SER-1934; GLY-1976; ARG-1984; ASN-2166; THR-2185; GLY-2247; RP ARG-2318; TYR-2406; SER-2442; ARG-2511; VAL-2606 DEL; LYS-2610 AND RP ARG-2646, AND VARIANTS GLY-1481 AND HIS-2793. RX PubMed=21542060; DOI=10.1002/humu.21525; RA Baetens M., Van Laer L., De Leeneer K., Hellemans J., De Schrijver J., RA Van De Voorde H., Renard M., Dietz H., Lacro R.V., Menten B., RA Van Criekinge W., De Backer J., De Paepe A., Loeys B., Coucke P.J.; RT "Applying massive parallel sequencing to molecular diagnosis of Marfan and RT Loeys-Dietz syndromes."; RL Hum. Mutat. 32:1053-1062(2011). RN [113] RP VARIANTS MFS GLU-55; GLN-219; SER-699; SER-880; TYR-908; ARG-1117; RP ALA-1199; 1539-ARG--HIS-2871 DEL; GLY-1642; ARG-1865; 2081-GLN--HIS-2871 RP DEL AND 2220-ARG--HIS-2871 DEL. RX PubMed=22772377; DOI=10.1007/s00109-012-0931-y; RA Wang W.J., Han P., Zheng J., Hu F.Y., Zhu Y., Xie J.S., Guo J., Zhang Z., RA Dong J., Zheng G.Y., Cao H., Liu T.S., Fu Q., Sun L., Yang B.B., Tian X.L.; RT "Exon 47 skipping of fibrillin-1 leads preferentially to cardiovascular RT defects in patients with thoracic aortic aneurysms and dissections."; RL J. Mol. Med. 91:37-47(2013). CC -!- FUNCTION: [Fibrillin-1]: Structural component of the 10-12 nm diameter CC microfibrils of the extracellular matrix, which conveys both structural CC and regulatory properties to load-bearing connective tissues CC (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils CC provide long-term force bearing structural support (PubMed:27026396). CC In tissues such as the lung, blood vessels and skin, microfibrils form CC the periphery of the elastic fiber, acting as a scaffold for the CC deposition of elastin (PubMed:27026396). In addition, microfibrils can CC occur as elastin-independent networks in tissues such as the ciliary CC zonule, tendon, cornea and glomerulus where they provide tensile CC strength and have anchoring roles (PubMed:27026396). Fibrillin-1 also CC plays a key role in tissue homeostasis through specific interactions CC with growth factors, such as the bone morphogenetic proteins (BMPs), CC growth and differentiation factors (GDFs) and latent transforming CC growth factor-beta-binding proteins (LTBPs), cell-surface integrins and CC other extracellular matrix protein and proteoglycan components CC (PubMed:27026396). Regulates osteoblast maturation by controlling TGF- CC beta bioavailability and calibrating TGF-beta and BMP levels, CC respectively (By similarity). Negatively regulates osteoclastogenesis CC by binding and sequestering an osteoclast differentiation and CC activation factor TNFSF11 (PubMed:24039232). This leads to disruption CC of TNFSF11-induced Ca(2+) signaling and impairment of TNFSF11-mediated CC nuclear translocation and activation of transcription factor NFATC1 CC which regulates genes important for osteoclast differentiation and CC function (PubMed:24039232). Mediates cell adhesion via its binding to CC cell surface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1 CC (PubMed:12807887, PubMed:17158881). Binds heparin and this interaction CC has an important role in the assembly of microfibrils CC (PubMed:11461921). {ECO:0000250|UniProtKB:Q61554, CC ECO:0000269|PubMed:11461921, ECO:0000269|PubMed:12807887, CC ECO:0000269|PubMed:15062093, ECO:0000269|PubMed:17158881, CC ECO:0000269|PubMed:1860873, ECO:0000269|PubMed:24039232, CC ECO:0000303|PubMed:27026396}. CC -!- FUNCTION: [Asprosin]: Adipokine secreted by white adipose tissue that CC plays an important regulatory role in the glucose metabolism of liver, CC muscle and pancreas (PubMed:27087445, PubMed:30853600). Hormone that CC targets the liver in response to fasting to increase plasma glucose CC levels (PubMed:27087445). Binds the olfactory receptor OR4M1 at the CC surface of hepatocytes and promotes hepatocyte glucose release by CC activating the protein kinase A activity in the liver, resulting in CC rapid glucose release into the circulation (PubMed:27087445, CC PubMed:31230984). May act as a regulator of adaptive thermogenesis by CC inhibiting browning and energy consumption, while increasing lipid CC deposition in white adipose tissue (By similarity). Also acts as an CC orexigenic hormone that increases appetite: crosses the blood brain CC barrier and exerts effects on the hypothalamus (By similarity). In the CC arcuate nucleus of the hypothalamus, asprosin directly activates CC orexigenic AgRP neurons and indirectly inhibits anorexigenic POMC CC neurons, resulting in appetite stimulation (By similarity). Activates CC orexigenic AgRP neurons via binding to the olfactory receptor OR4M1 (By CC similarity). May also play a role in sperm motility in testis via CC interaction with OR4M1 receptor (By similarity). CC {ECO:0000250|UniProtKB:Q61554, ECO:0000269|PubMed:27087445, CC ECO:0000269|PubMed:30853600, ECO:0000269|PubMed:31230984}. CC -!- SUBUNIT: [Fibrillin-1]: Interacts with COL16A1 (PubMed:15165854). CC Interacts with integrin alpha-V/beta-3 (PubMed:15062093). Interacts CC with ADAMTS10; this interaction promotes microfibril assembly CC (PubMed:21402694). Interacts with THSD4; this interaction promotes CC fibril formation (By similarity). Interacts (via N-terminal domain) CC with FBLN2 and FBLN5 (PubMed:15790312, PubMed:17255108). Interacts with CC ELN (PubMed:15790312). Forms a ternary complex with ELN and FBLN2 or CC FBLN5 and a significant interaction with ELN seen only in the presence CC of FBLN2 or FBLN5 (PubMed:17255108). Interacts (via N-terminal domain) CC with LTBP2 (via C-terminal domain) in a Ca(+2)-dependent manner CC (PubMed:17293099). Interacts (via N-terminal domain) with LTBP1 (via C- CC terminal domain) (PubMed:17293099). Interacts with integrins CC ITGA5:ITGB1, ITGAV:ITGB3 and ITGAV:ITGB6 (PubMed:17158881, CC PubMed:12807887). Interacts (via N-terminal domain) with BMP2, BMP4, CC BMP7, BMP10 and GDF5 (PubMed:18339631). Interacts (via N-terminal CC domain) with MFAP2 and MFAP5 (PubMed:15131124). Interacts with ADAMTSL5 CC (PubMed:23010571). Interacts with MFAP4 (PubMed:26601954). Interacts CC (via N-terminal domain) with TNFSF11 in a Ca(+2)-dependent manner CC (PubMed:24039232). Interacts (via N-terminal domain) with EFEMP2; this CC interaction inhibits EFEMP2 binding to LOX and ELN (PubMed:17255108, CC PubMed:19349279, PubMed:19570982). {ECO:0000250|UniProtKB:Q61554, CC ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:15062093, CC ECO:0000269|PubMed:15131124, ECO:0000269|PubMed:15165854, CC ECO:0000269|PubMed:15790312, ECO:0000269|PubMed:17158881, CC ECO:0000269|PubMed:17255108, ECO:0000269|PubMed:17293099, CC ECO:0000269|PubMed:18339631, ECO:0000269|PubMed:19349279, CC ECO:0000269|PubMed:19570982, ECO:0000269|PubMed:21402694, CC ECO:0000269|PubMed:23010571, ECO:0000269|PubMed:24039232, CC ECO:0000269|PubMed:26601954}. CC -!- INTERACTION: CC P35555; O95967: EFEMP2; NbExp=3; IntAct=EBI-2505934, EBI-743414; CC P35555; Q9UBX5: FBLN5; NbExp=3; IntAct=EBI-2505934, EBI-947897; CC P35555; P35555: FBN1; NbExp=6; IntAct=EBI-2505934, EBI-2505934; CC P35555; P35556: FBN2; NbExp=2; IntAct=EBI-2505934, EBI-6164392; CC P35555; P02751: FN1; NbExp=2; IntAct=EBI-2505934, EBI-1220319; CC P35555; Q7L5D6: GET4; NbExp=3; IntAct=EBI-2505934, EBI-711823; CC P35555; O14964: HGS; NbExp=3; IntAct=EBI-2505934, EBI-740220; CC P35555; P28300: LOX; NbExp=2; IntAct=EBI-2505934, EBI-3893481; CC P35555; Q14766-2: LTBP1; NbExp=2; IntAct=EBI-2505934, EBI-11173832; CC P35555; Q96EQ0: SGTB; NbExp=3; IntAct=EBI-2505934, EBI-744081; CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000269|PubMed:24982166, CC ECO:0000269|PubMed:34411563}. Note=Fibrillin-1 and Asprosin chains are CC still linked together during the secretion from cells, but are CC subsequently separated by furin (PubMed:24982166). CC {ECO:0000269|PubMed:24982166}. CC -!- SUBCELLULAR LOCATION: [Fibrillin-1]: Secreted, extracellular space, CC extracellular matrix {ECO:0000269|PubMed:11461921, CC ECO:0000269|PubMed:24982166}. CC -!- SUBCELLULAR LOCATION: [Asprosin]: Secreted CC {ECO:0000269|PubMed:27087445}. Note=Secreted by white adipose tissue CC and circulates in the plasma. {ECO:0000269|PubMed:27087445}. CC -!- INDUCTION: [Asprosin]: Asprosin levels are elevated in patients with CC type II diabetes and metabolic syndrome (at protein level). CC {ECO:0000269|PubMed:29104036, ECO:0000269|PubMed:31775140}. CC -!- PTM: Cleavage of N- and C-terminus by furin is required for CC incorporation into the extracellular matrix and assembly into CC microfibrils (PubMed:27026396). The C-terminus, which corresponds to CC the Asprosin chain, was initially thought to constitute a propeptide CC (PubMed:24982166). Fibrillin-1 and Asprosin chains are still linked CC together during the secretion from cells, but are subsequently CC separated by furin, an essential step for incorporation of Fibrillin-1 CC into the nascent microfibrils (PubMed:24982166). CC {ECO:0000269|PubMed:10636927, ECO:0000269|PubMed:24982166, CC ECO:0000303|PubMed:27026396}. CC -!- PTM: [Fibrillin-1]: Forms intermolecular disulfide bonds either with CC other fibrillin-1 molecules or with other components of the CC microfibrils. {ECO:0000269|PubMed:9362480}. CC -!- PTM: O-glycosylated on serine residues by POGLUT2 and POGLUT3 which is CC necessary for efficient protein secretion. CC {ECO:0000269|PubMed:34411563}. CC -!- DISEASE: Marfan syndrome (MFS) [MIM:154700]: A hereditary disorder of CC connective tissue that affects the skeletal, ocular, and cardiovascular CC systems. A wide variety of skeletal abnormalities occurs with Marfan CC syndrome, including scoliosis, chest wall deformity, tall stature, CC abnormal joint mobility. Ectopia lentis occurs in most of the patients CC and is almost always bilateral. The leading cause of premature death is CC progressive dilation of the aortic root and ascending aorta, causing CC aortic incompetence and dissection. Neonatal Marfan syndrome is the CC most severe form resulting in death from cardiorespiratory failure in CC the first few years of life. {ECO:0000269|PubMed:10425041, CC ECO:0000269|PubMed:10441597, ECO:0000269|PubMed:10694921, CC ECO:0000269|PubMed:11700157, ECO:0000269|PubMed:11826022, CC ECO:0000269|PubMed:12161601, ECO:0000269|PubMed:12203992, CC ECO:0000269|PubMed:12402346, ECO:0000269|PubMed:1301946, CC ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:15161917, CC ECO:0000269|PubMed:15221638, ECO:0000269|PubMed:1569206, CC ECO:0000269|PubMed:16220557, ECO:0000269|PubMed:16222657, CC ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:18435798, CC ECO:0000269|PubMed:1852208, ECO:0000269|PubMed:19533785, CC ECO:0000269|PubMed:19941982, ECO:0000269|PubMed:20803651, CC ECO:0000269|PubMed:21542060, ECO:0000269|PubMed:22772377, CC ECO:0000269|PubMed:7611299, ECO:0000269|PubMed:7738200, CC ECO:0000269|PubMed:7762551, ECO:0000269|PubMed:7870075, CC ECO:0000269|PubMed:7951214, ECO:0000269|PubMed:7977366, CC ECO:0000269|PubMed:8004112, ECO:0000269|PubMed:8040326, CC ECO:0000269|PubMed:8071963, ECO:0000269|PubMed:8136837, CC ECO:0000269|PubMed:8281141, ECO:0000269|PubMed:8406497, CC ECO:0000269|PubMed:8504310, ECO:0000269|PubMed:8863159, CC ECO:0000269|PubMed:8882780, ECO:0000269|PubMed:9016526, CC ECO:0000269|PubMed:9254848, ECO:0000269|PubMed:9338581, CC ECO:0000269|PubMed:9401003, ECO:0000269|PubMed:9452085, CC ECO:0000269|PubMed:9837823, ECO:0000269|Ref.76}. Note=The disease is CC caused by variants affecting the gene represented in this entry. The CC majority of the more than a thousand mutations in FBN1 currently known CC are point mutations, the rest are frameshifts and splice site CC mutations. Marfan syndrome has been suggested in at least 2 historical CC figures, Abraham Lincoln and Paganini. CC -!- DISEASE: Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) CC [MIM:129600]: An ocular abnormality characterized by partial or CC complete displacement of the lens from its space resulting from CC defective zonule formation. {ECO:0000269|PubMed:11700157, CC ECO:0000269|PubMed:11826022, ECO:0000269|PubMed:12203992, CC ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:8188302}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Weill-Marchesani syndrome 2 (WMS2) [MIM:608328]: A rare CC connective tissue disorder characterized by short stature, CC brachydactyly, joint stiffness, and eye abnormalities including CC microspherophakia, ectopia lentis, severe myopia and glaucoma. CC {ECO:0000269|PubMed:12525539}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Overlap connective tissue disease (OCTD) [MIM:604308]: CC Heritable disorder of connective tissue characterized by involvement of CC the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely CC resembling both the Marfan syndrome and the Barlow syndrome. However, CC no dislocation of the lenses or aneurysmal changes occur in the aorta, CC and the mitral valve prolapse is by no means invariable. CC {ECO:0000269|PubMed:2739055}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Stiff skin syndrome (SSKS) [MIM:184900]: A syndrome CC characterized by hard, thick skin, usually over the entire body, which CC limits joint mobility and causes flexion contractures. Other occasional CC findings include lipodystrophy and muscle weakness. CC {ECO:0000269|PubMed:20375004}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]: An autosomal CC dominant disorder characterized by severe short stature, short hands CC and feet, joint limitations, and skin thickening. Radiologic features CC include delayed bone age, cone-shaped epiphyses, shortened long tubular CC bones, and ovoid vertebral bodies. Affected individuals have CC characteristic facial features including a 'happy' face with full CC cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin CC upper lip. Other distinctive features include progressive cardiac CC valvular thickening often leading to an early death, toe walking, CC tracheal stenosis, respiratory insufficiency, and lysosomal-like CC storage vacuoles in various tissues. {ECO:0000269|PubMed:21683322}. CC Note=The disease is caused by variants affecting the gene represented CC in this entry. CC -!- DISEASE: Acromicric dysplasia (ACMICD) [MIM:102370]: An autosomal CC dominant disorder characterized by severe short stature, short hands CC and feet, joint limitations, and skin thickening. Radiologic features CC include delayed bone age, cone-shaped epiphyses, shortened long tubular CC bones, and ovoid vertebral bodies. Affected individuals have distinct CC facial features, including round face, well-defined eyebrows, long CC eyelashes, bulbous nose with anteverted nostrils, long and prominent CC philtrum, and thick lips with a small mouth. Other characteristic CC features include hoarse voice and pseudomuscular build, and there are CC distinct skeletal features as well, including an internal notch of the CC femoral head, internal notch of the second metacarpal, and external CC notch of the fifth metacarpal. {ECO:0000269|PubMed:21683322}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: [Asprosin]: Marfanoid-progeroid-lipodystrophy syndrome (MFLS) CC [MIM:616914]: An autosomal dominant syndrome characterized by CC congenital lipodystrophy, a progeroid facial appearance due to lack of CC subcutaneous fat, and variable signs of Marfan syndrome. Clinical CC features include premature birth with an accelerated linear growth CC disproportionate to the weight gain, ectopia lentis, aortic dilatation, CC dural ectasia, and arachnodactyly. Mental and motor development are CC within normal limits. {ECO:0000269|PubMed:20979188, CC ECO:0000269|PubMed:21594992, ECO:0000269|PubMed:21594993, CC ECO:0000269|PubMed:24039054, ECO:0000269|PubMed:24613577, CC ECO:0000269|PubMed:24665001, ECO:0000269|PubMed:26860060, CC ECO:0000269|PubMed:27087445}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- BIOTECHNOLOGY: [Asprosin]: Attractive therapeutic target for type II CC diabetes and metabolic syndrome. {ECO:0000269|PubMed:33904407}. CC -!- MISCELLANEOUS: [Asprosin]: Was named after the Greek word for white, CC because of the reduction in subcutaneous white adipose tissue that is CC displayed by asprosin-deficient patients. CC {ECO:0000303|PubMed:27087445}. CC -!- SIMILARITY: Belongs to the fibrillin family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=CAA45118.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=Two birds, one stone - Issue CC 248 of June 2022; CC URL="https://web.expasy.org/spotlight/back_issues/248/"; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; L13923; AAB02036.1; -; mRNA. DR EMBL; AB177803; BAD16739.1; -; Genomic_DNA. DR EMBL; GU143398; ACZ58372.1; -; Genomic_DNA. DR EMBL; AC022467; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC084757; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC084758; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471082; EAW77354.1; -; Genomic_DNA. DR EMBL; BC146854; AAI46855.1; -; mRNA. DR EMBL; L19896; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; X63556; CAA45118.1; ALT_INIT; mRNA. DR EMBL; X62008; -; NOT_ANNOTATED_CDS; mRNA. DR EMBL; S54426; AAB25244.1; -; Genomic_DNA. DR EMBL; S54425; AAB25244.1; JOINED; Genomic_DNA. DR CCDS; CCDS32232.1; -. DR PIR; A47221; A47221. DR RefSeq; NP_000129.3; NM_000138.4. DR PDB; 1APJ; NMR; -; A=2052-2125. DR PDB; 1EMN; NMR; -; A=2124-2205. DR PDB; 1EMO; NMR; -; A=2124-2205. DR PDB; 1LMJ; NMR; -; A=1069-1154. DR PDB; 1UZJ; X-ray; 2.25 A; A/B/C=1486-1647. DR PDB; 1UZK; X-ray; 1.35 A; A=1486-1647. DR PDB; 1UZP; X-ray; 1.78 A; A=1486-1647. DR PDB; 1UZQ; X-ray; 2.40 A; A=1486-1647. DR PDB; 2M74; NMR; -; A=45-178. DR PDB; 2W86; X-ray; 1.80 A; A=807-951. DR PDB; 5MS9; NMR; -; A=113-287. DR PDBsum; 1APJ; -. DR PDBsum; 1EMN; -. DR PDBsum; 1EMO; -. DR PDBsum; 1LMJ; -. DR PDBsum; 1UZJ; -. DR PDBsum; 1UZK; -. DR PDBsum; 1UZP; -. DR PDBsum; 1UZQ; -. DR PDBsum; 2M74; -. DR PDBsum; 2W86; -. DR PDBsum; 5MS9; -. DR BMRB; P35555; -. DR SASBDB; P35555; -. DR SMR; P35555; -. DR BioGRID; 108494; 30. DR CORUM; P35555; -. DR DIP; DIP-29985N; -. DR ELM; P35555; -. DR IntAct; P35555; 35. DR MINT; P35555; -. DR STRING; 9606.ENSP00000325527; -. DR GlyConnect; 1235; 62 N-Linked glycans (12 sites). DR GlyCosmos; P35555; 46 sites, 69 glycans. DR GlyGen; P35555; 48 sites, 68 N-linked glycans (12 sites), 3 O-linked glycans (30 sites). DR iPTMnet; P35555; -. DR PhosphoSitePlus; P35555; -. DR SwissPalm; P35555; -. DR BioMuta; FBN1; -. DR DMDM; 311033452; -. DR CPTAC; CPTAC-5850; -. DR CPTAC; CPTAC-5851; -. DR CPTAC; CPTAC-5852; -. DR CPTAC; CPTAC-5875; -. DR CPTAC; CPTAC-5876; -. DR CPTAC; CPTAC-5877; -. DR EPD; P35555; -. DR jPOST; P35555; -. DR MassIVE; P35555; -. DR MaxQB; P35555; -. DR PaxDb; 9606-ENSP00000325527; -. DR PeptideAtlas; P35555; -. DR ProteomicsDB; 55081; -. DR Pumba; P35555; -. DR Antibodypedia; 2908; 559 antibodies from 37 providers. DR CPTC; P35555; 3 antibodies. DR DNASU; 2200; -. DR Ensembl; ENST00000316623.10; ENSP00000325527.5; ENSG00000166147.15. DR GeneID; 2200; -. DR KEGG; hsa:2200; -. DR MANE-Select; ENST00000316623.10; ENSP00000325527.5; NM_000138.5; NP_000129.3. DR UCSC; uc001zwx.3; human. DR AGR; HGNC:3603; -. DR CTD; 2200; -. DR DisGeNET; 2200; -. DR GeneCards; FBN1; -. DR GeneReviews; FBN1; -. DR HGNC; HGNC:3603; FBN1. DR HPA; ENSG00000166147; Tissue enhanced (adipose tissue, placenta). DR MalaCards; FBN1; -. DR MIM; 102370; phenotype. DR MIM; 129600; phenotype. DR MIM; 134797; gene. DR MIM; 154700; phenotype. DR MIM; 184900; phenotype. DR MIM; 604308; phenotype. DR MIM; 608328; phenotype. DR MIM; 614185; phenotype. DR MIM; 616914; phenotype. DR neXtProt; NX_P35555; -. DR OpenTargets; ENSG00000166147; -. DR Orphanet; 969; Acromicric dysplasia. DR Orphanet; 91387; Familial thoracic aortic aneurysm and aortic dissection. DR Orphanet; 2623; Geleophysic dysplasia. DR Orphanet; 2084; Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome. DR Orphanet; 1885; Isolated ectopia lentis. DR Orphanet; 284963; Marfan syndrome type 1. DR Orphanet; 284979; Neonatal Marfan syndrome. DR Orphanet; 300382; Progeroid and marfanoid aspect-lipodystrophy syndrome. DR Orphanet; 2462; Shprintzen-Goldberg syndrome. DR Orphanet; 2833; Stiff skin syndrome. DR Orphanet; 3449; Weill-Marchesani syndrome. DR PharmGKB; PA28016; -. DR VEuPathDB; HostDB:ENSG00000166147; -. DR eggNOG; KOG1217; Eukaryota. DR GeneTree; ENSGT00950000183158; -. DR HOGENOM; CLU_000233_0_0_1; -. DR InParanoid; P35555; -. DR OMA; DRLDCVD; -. DR OrthoDB; 354414at2759; -. DR PhylomeDB; P35555; -. DR TreeFam; TF316849; -. DR PathwayCommons; P35555; -. DR Reactome; R-HSA-1474228; Degradation of the extracellular matrix. DR Reactome; R-HSA-1566948; Elastic fibre formation. DR Reactome; R-HSA-2129379; Molecules associated with elastic fibres. DR Reactome; R-HSA-216083; Integrin cell surface interactions. DR Reactome; R-HSA-2173789; TGF-beta receptor signaling activates SMADs. DR Reactome; R-HSA-381426; Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs). DR Reactome; R-HSA-8957275; Post-translational protein phosphorylation. DR SignaLink; P35555; -. DR SIGNOR; P35555; -. DR BioGRID-ORCS; 2200; 8 hits in 1157 CRISPR screens. DR ChiTaRS; FBN1; human. DR EvolutionaryTrace; P35555; -. DR GeneWiki; FBN1; -. DR GenomeRNAi; 2200; -. DR Pharos; P35555; Tbio. DR PRO; PR:P35555; -. DR Proteomes; UP000005640; Chromosome 15. DR RNAct; P35555; Protein. DR Bgee; ENSG00000166147; Expressed in synovial joint and 193 other cell types or tissues. DR ExpressionAtlas; P35555; baseline and differential. DR GO; GO:0005604; C:basement membrane; IDA:UniProtKB. DR GO; GO:0062023; C:collagen-containing extracellular matrix; HDA:UniProtKB. DR GO; GO:0005788; C:endoplasmic reticulum lumen; TAS:Reactome. DR GO; GO:0031012; C:extracellular matrix; IDA:UniProtKB. DR GO; GO:0005576; C:extracellular region; IDA:UniProtKB. DR GO; GO:0005615; C:extracellular space; IDA:UniProtKB. DR GO; GO:0001527; C:microfibril; IDA:UniProtKB. DR GO; GO:0005509; F:calcium ion binding; IDA:UniProtKB. DR GO; GO:0030023; F:extracellular matrix constituent conferring elasticity; IC:UniProtKB. DR GO; GO:0005201; F:extracellular matrix structural constituent; IDA:UniProtKB. DR GO; GO:0008201; F:heparin binding; IDA:UniProtKB. DR GO; GO:0005179; F:hormone activity; IEA:UniProtKB-KW. DR GO; GO:0042802; F:identical protein binding; IPI:IntAct. DR GO; GO:0005178; F:integrin binding; IPI:UniProtKB. DR GO; GO:0044877; F:protein-containing complex binding; IPI:UniProtKB. DR GO; GO:0009653; P:anatomical structure morphogenesis; IBA:GO_Central. DR GO; GO:0043010; P:camera-type eye development; IEP:UniProtKB. DR GO; GO:0033627; P:cell adhesion mediated by integrin; IDA:UniProtKB. DR GO; GO:1990314; P:cellular response to insulin-like growth factor stimulus; IEA:Ensembl. DR GO; GO:0071560; P:cellular response to transforming growth factor beta stimulus; IEA:Ensembl. DR GO; GO:0048048; P:embryonic eye morphogenesis; IEP:UniProtKB. DR GO; GO:0007507; P:heart development; IMP:UniProtKB. DR GO; GO:0001656; P:metanephros development; IEA:Ensembl. DR GO; GO:2001205; P:negative regulation of osteoclast development; IDA:UniProtKB. DR GO; GO:0045671; P:negative regulation of osteoclast differentiation; IDA:UniProtKB. DR GO; GO:0048050; P:post-embryonic eye morphogenesis; IEP:UniProtKB. DR GO; GO:0035582; P:sequestering of BMP in extracellular matrix; ISS:BHF-UCL. DR GO; GO:0035583; P:sequestering of TGFbeta in extracellular matrix; ISS:BHF-UCL. DR GO; GO:0001501; P:skeletal system development; IMP:UniProtKB. DR CDD; cd00054; EGF_CA; 30. DR Gene3D; 2.10.25.10; Laminin; 46. DR Gene3D; 3.90.290.10; TGF-beta binding (TB) domain; 9. DR InterPro; IPR026823; cEGF. DR InterPro; IPR001881; EGF-like_Ca-bd_dom. DR InterPro; IPR013032; EGF-like_CS. DR InterPro; IPR000742; EGF-like_dom. DR InterPro; IPR000152; EGF-type_Asp/Asn_hydroxyl_site. DR InterPro; IPR018097; EGF_Ca-bd_CS. DR InterPro; IPR024731; EGF_dom. DR InterPro; IPR049388; FBN_EGF_N. DR InterPro; IPR040872; Fibrillin_U_N. DR InterPro; IPR009030; Growth_fac_rcpt_cys_sf. DR InterPro; IPR017878; TB_dom. DR InterPro; IPR036773; TB_dom_sf. DR PANTHER; PTHR47333:SF3; FIBRILLIN 2; 1. DR PANTHER; PTHR47333; VON WILLEBRAND FACTOR C AND EGF DOMAIN-CONTAINING PROTEIN; 1. DR Pfam; PF12662; cEGF; 5. DR Pfam; PF12947; EGF_3; 1. DR Pfam; PF07645; EGF_CA; 32. DR Pfam; PF21364; FBN_EGF_st1; 1. DR Pfam; PF18193; Fibrillin_U_N; 1. DR Pfam; PF14670; FXa_inhibition; 1. DR Pfam; PF12661; hEGF; 1. DR Pfam; PF00683; TB; 9. DR PIRSF; PIRSF036312; Fibrillin; 1. DR SMART; SM00181; EGF; 47. DR SMART; SM00179; EGF_CA; 44. DR SUPFAM; SSF57196; EGF/Laminin; 11. DR SUPFAM; SSF57184; Growth factor receptor domain; 11. DR SUPFAM; SSF57581; TB module/8-cys domain; 9. DR PROSITE; PS00010; ASX_HYDROXYL; 43. DR PROSITE; PS00022; EGF_1; 2. DR PROSITE; PS01186; EGF_2; 38. DR PROSITE; PS50026; EGF_3; 45. DR PROSITE; PS01187; EGF_CA; 43. DR PROSITE; PS51364; TB; 9. DR Genevisible; P35555; HS. PE 1: Evidence at protein level; KW 3D-structure; Aortic aneurysm; Calcium; Direct protein sequencing; KW Disease variant; Disulfide bond; Dwarfism; EGF-like domain; KW Extracellular matrix; Glycoprotein; Heparin-binding; Hormone; KW Phosphoprotein; Reference proteome; Repeat; Secreted; Signal. FT SIGNAL 1..24 FT /evidence="ECO:0000269|PubMed:10636927" FT PROPEP 25..44 FT /evidence="ECO:0000269|PubMed:10636927" FT /id="PRO_0000436881" FT CHAIN 45..2731 FT /note="Fibrillin-1" FT /evidence="ECO:0000305|PubMed:10636927, FT ECO:0000305|PubMed:24982166" FT /id="PRO_0000007581" FT CHAIN 2732..2871 FT /note="Asprosin" FT /evidence="ECO:0000305|PubMed:27087445, FT ECO:0000305|PubMed:9817919" FT /id="PRO_0000436882" FT DOMAIN 81..112 FT /note="EGF-like 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 115..146 FT /note="EGF-like 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 147..178 FT /note="EGF-like 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 184..236 FT /note="TB 1" FT DOMAIN 246..287 FT /note="EGF-like 4; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 288..329 FT /note="EGF-like 5; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 334..389 FT /note="TB 2" FT DOMAIN 449..489 FT /note="EGF-like 6" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 490..529 FT /note="EGF-like 7; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 530..571 FT /note="EGF-like 8; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 572..612 FT /note="EGF-like 9; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 613..653 FT /note="EGF-like 10; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 659..711 FT /note="TB 3" FT DOMAIN 723..764 FT /note="EGF-like 11; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 765..806 FT /note="EGF-like 12; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 807..846 FT /note="EGF-like 13; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 851..902 FT /note="TB 4" FT DOMAIN 910..951 FT /note="EGF-like 14; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 956..1008 FT /note="TB 5" FT DOMAIN 1028..1069 FT /note="EGF-like 15; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1070..1112 FT /note="EGF-like 16; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1113..1154 FT /note="EGF-like 17; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1155..1196 FT /note="EGF-like 18; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1197..1237 FT /note="EGF-like 19; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1238..1279 FT /note="EGF-like 20; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1280..1321 FT /note="EGF-like 21; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1322..1362 FT /note="EGF-like 22; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1363..1403 FT /note="EGF-like 23; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1404..1445 FT /note="EGF-like 24; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1446..1486 FT /note="EGF-like 25; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1487..1527 FT /note="EGF-like 26; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1532..1589 FT /note="TB 6" FT DOMAIN 1606..1647 FT /note="EGF-like 27; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1648..1688 FT /note="EGF-like 28; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1693..1748 FT /note="TB 7" FT DOMAIN 1766..1807 FT /note="EGF-like 29; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1808..1848 FT /note="EGF-like 30; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1849..1890 FT /note="EGF-like 31; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1891..1929 FT /note="EGF-like 32; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1930..1972 FT /note="EGF-like 33; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 1973..2012 FT /note="EGF-like 34; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2013..2054 FT /note="EGF-like 35; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2059..2111 FT /note="TB 8" FT DOMAIN 2127..2165 FT /note="EGF-like 36; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2166..2205 FT /note="EGF-like 37; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2206..2246 FT /note="EGF-like 38; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2247..2290 FT /note="EGF-like 39; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2291..2332 FT /note="EGF-like 40; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2337..2390 FT /note="TB 9" FT DOMAIN 2402..2443 FT /note="EGF-like 41; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2444..2484 FT /note="EGF-like 42; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2485..2523 FT /note="EGF-like 43; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2524..2566 FT /note="EGF-like 44; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2567..2606 FT /note="EGF-like 45; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2607..2647 FT /note="EGF-like 46; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DOMAIN 2648..2687 FT /note="EGF-like 47; calcium-binding" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT REGION 45..450 FT /note="N-terminal domain" FT /evidence="ECO:0000269|PubMed:11461921" FT REGION 45..81 FT /note="Fibrillin unique N-terminal (FUN) domain" FT /evidence="ECO:0000305|PubMed:24035709" FT REGION 119..329 FT /note="Interaction with MFAP4" FT /evidence="ECO:0000269|PubMed:26601954" FT REGION 195..221 FT /note="Hybrid domain 1" FT /evidence="ECO:0000305|PubMed:19446531" FT REGION 862..887 FT /note="Hybrid domain 2" FT /evidence="ECO:0000305|PubMed:19446531" FT REGION 1528..2731 FT /note="C-terminal domain" FT /evidence="ECO:0000269|PubMed:11461921" FT REGION 2726..2746 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT MOTIF 1541..1543 FT /note="Cell attachment site" FT /evidence="ECO:0000269|PubMed:12807887" FT SITE 44..45 FT /note="Cleavage; by furin" FT /evidence="ECO:0000305|PubMed:10636927" FT SITE 2731..2732 FT /note="Cleavage; by furin" FT /evidence="ECO:0000269|PubMed:24982166, FT ECO:0000269|PubMed:9817919" FT MOD_RES 2702 FT /note="Phosphoserine; by FAM20C" FT /evidence="ECO:0000269|PubMed:26091039, FT ECO:0007744|PubMed:24275569" FT MOD_RES 2709 FT /note="Phosphoserine" FT /evidence="ECO:0000250|UniProtKB:Q61554" FT CARBOHYD 268 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 448 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:19159218" FT CARBOHYD 471 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 510 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 552 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 593 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 634 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 787 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 827 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1050 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1067 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:19159218" FT CARBOHYD 1135 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1149 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1218 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1302 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1345 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1369 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1386 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1484 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:19159218" FT CARBOHYD 1508 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1581 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000269|PubMed:19159218" FT CARBOHYD 1628 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1669 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1703 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1713 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1830 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1871 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1902 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 1911 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 1953 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2035 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2077 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2148 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2178 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2227 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2313 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2465 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2547 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2628 FT /note="O-linked (Glc) serine" FT /evidence="ECO:0000269|PubMed:34411563" FT CARBOHYD 2734 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2750 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 2767 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT DISULFID 59..68 FT /evidence="ECO:0000269|PubMed:24035709" FT DISULFID 67..80 FT /evidence="ECO:0000269|PubMed:24035709" FT DISULFID 85..94 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 89..100 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 102..111 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 119..129 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 123..134 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 136..145 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 150..160 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 154..166 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 168..177 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:24035709" FT DISULFID 250..262 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 257..271 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 273..286 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 292..304 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 299..313 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 315..328 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 453..465 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 460..474 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 476..488 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 494..504 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 499..513 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 515..528 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 534..546 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 541..555 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 557..570 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 576..587 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 582..596 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 598..611 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 617..628 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 623..637 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 639..652 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 727..739 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 734..748 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 750..763 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 769..781 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 776..790 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 792..805 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 811..821 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 816..830 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 832..845 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 853..875 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 862..887 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 876..890 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 896..908 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 914..926 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 921..935 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 937..950 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:19446531" FT DISULFID 1032..1044 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1039..1053 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1055..1068 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1074..1086 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:12511552" FT DISULFID 1081..1095 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:12511552" FT DISULFID 1097..1111 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:12511552" FT DISULFID 1117..1129 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:12511552" FT DISULFID 1124..1138 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:12511552" FT DISULFID 1140..1153 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1159..1171 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1166..1180 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1182..1195 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1201..1212 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1208..1221 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1223..1236 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1242..1254 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1249..1263 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1265..1278 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1284..1296 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1291..1305 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1307..1320 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1326..1339 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1333..1348 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1350..1361 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1367..1380 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1374..1389 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1391..1402 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1408..1420 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1415..1429 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1431..1444 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1450..1461 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1456..1470 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1472..1485 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1491..1502 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1497..1511 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1513..1526 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1534..1562 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1549..1574 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1563..1577 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1564..1589 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1610..1622 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1617..1631 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1633..1646 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:15062093" FT DISULFID 1652..1663 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1658..1672 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1674..1687 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1770..1782 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1777..1791 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1793..1806 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1812..1824 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1818..1833 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1835..1847 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1853..1865 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1860..1874 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1876..1889 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1895..1905 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1900..1914 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1916..1928 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1934..1947 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1942..1956 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1958..1971 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1977..1989 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 1984..1998 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2000..2011 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2017..2029 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2024..2038 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2040..2053 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2061..2083 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:9362480" FT DISULFID 2070..2096 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:9362480" FT DISULFID 2084..2099 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:9362480" FT DISULFID 2085..2111 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076, FT ECO:0000269|PubMed:9362480" FT DISULFID 2131..2142 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2137..2151 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2153..2164 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2170..2181 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2176..2190 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2192..2204 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2210..2221 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2217..2230 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2232..2245 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2251..2265 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2258..2274 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2276..2289 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2295..2307 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2302..2316 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2318..2331 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2406..2418 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2413..2427 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2429..2442 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2448..2459 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2455..2468 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2470..2483 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2489..2500 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2496..2509 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2511..2522 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2528..2541 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2535..2550 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2552..2565 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2571..2581 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2577..2590 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2592..2605 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2611..2622 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2617..2631 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2633..2646 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2652..2663 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2659..2672 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT DISULFID 2674..2686 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00076" FT VARIANT 20 FT /note="Y -> C (in MFS; dbSNP:rs201309310)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023859" FT VARIANT 27 FT /note="A -> T (in dbSNP:rs25397)" FT /id="VAR_014663" FT VARIANT 39 FT /note="A -> P (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_075984" FT VARIANT 55 FT /note="G -> E (in MFS)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_075985" FT VARIANT 57 FT /note="N -> D (in MFS; dbSNP:rs2044669685)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_075986" FT VARIANT 62 FT /note="R -> C (in MFS; also in a patient with ectopia FT lentis and retinal detachment; dbSNP:rs25403)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017967" FT VARIANT 63 FT /note="Y -> C (in ECTOL1; dbSNP:rs1303389437)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075987" FT VARIANT 68 FT /note="C -> S (in ECTOL1; dbSNP:rs113604459)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075988" FT VARIANT 80 FT /note="C -> G (in MFS; dbSNP:rs111764111)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065981" FT VARIANT 89 FT /note="C -> F (in MFS; dbSNP:rs112660651)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017968" FT VARIANT 100 FT /note="C -> Y (in MFS; dbSNP:rs397515782)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_075989" FT VARIANT 111 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002276" FT VARIANT 114 FT /note="R -> C (in MFS)" FT /evidence="ECO:0000269|PubMed:11826022" FT /id="VAR_017969" FT VARIANT 115 FT /note="S -> C (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017970" FT VARIANT 122 FT /note="R -> C (in MFS; dbSNP:rs137854467)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:8040326, FT ECO:0000269|PubMed:9452085" FT /id="VAR_002277" FT VARIANT 123 FT /note="C -> Y (in MFS; dbSNP:rs397515794)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:18435798" FT /id="VAR_023860" FT VARIANT 127 FT /note="G -> D (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1566935524)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075990" FT VARIANT 129 FT /note="C -> Y (in MFS; severe neonatal; FT dbSNP:rs1566935517)" FT /evidence="ECO:0000269|PubMed:19533785, FT ECO:0000269|PubMed:7611299" FT /id="VAR_002278" FT VARIANT 133 FT /note="H -> Q (in dbSNP:rs363850)" FT /id="VAR_055723" FT VARIANT 136 FT /note="C -> S (in MFS; dbSNP:rs1555405041)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_075991" FT VARIANT 154 FT /note="C -> S (in MFS; dbSNP:rs1057521103)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_017971" FT VARIANT 160 FT /note="C -> R (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1057518973)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075992" FT VARIANT 164 FT /note="N -> S (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs749490298)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075993" FT VARIANT 166 FT /note="C -> F (in MFS)" FT /evidence="ECO:0000269|PubMed:7611299" FT /id="VAR_002279" FT VARIANT 166 FT /note="C -> S (in MFS; dbSNP:rs397515818 and FT dbSNP:rs363852)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_002280" FT VARIANT 177 FT /note="C -> R (in MFS; dbSNP:rs363853)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023861" FT VARIANT 177 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_075994" FT VARIANT 177 FT /note="C -> Y (in MFS; dbSNP:rs113695103)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_075995" FT VARIANT 214 FT /note="G -> S (in MFS; dbSNP:rs794728162)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:18435798" FT /id="VAR_075996" FT VARIANT 215..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075997" FT VARIANT 217 FT /note="W -> G (in MFS; dbSNP:rs193922224)" FT /evidence="ECO:0000269|PubMed:7977366, FT ECO:0000269|PubMed:8136837" FT /id="VAR_002281" FT VARIANT 219 FT /note="H -> Q (in MFS; dbSNP:rs774754863)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_075998" FT VARIANT 224 FT /note="C -> R (in MFS; dbSNP:rs1555401676)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023862" FT VARIANT 240 FT /note="R -> C (in MFS and ECTOL1; dbSNP:rs137854480)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:11826022, ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:17657824" FT /id="VAR_017972" FT VARIANT 248..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_075999" FT VARIANT 329 FT /note="I -> T (in dbSNP:rs12324002)" FT /id="VAR_055724" FT VARIANT 348..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076000" FT VARIANT 351..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076001" FT VARIANT 363 FT /note="G -> S (in dbSNP:rs363855)" FT /id="VAR_055725" FT VARIANT 364..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076002" FT VARIANT 365 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076003" FT VARIANT 365 FT /note="C -> W (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076004" FT VARIANT 366..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076005" FT VARIANT 366 FT /note="W -> C (in MFS; dbSNP:rs1555400595)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017973" FT VARIANT 429..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:12402346, FT ECO:0000269|PubMed:18435798" FT /id="VAR_076006" FT VARIANT 439 FT /note="R -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023863" FT VARIANT 449 FT /note="V -> I (in MFS; dbSNP:rs139058991)" FT /evidence="ECO:0000269|PubMed:12402346" FT /id="VAR_076007" FT VARIANT 472 FT /note="Y -> C (in dbSNP:rs4775765)" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_058090" FT VARIANT 474 FT /note="C -> W (in MFS; dbSNP:rs1555400378)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076008" FT VARIANT 476 FT /note="C -> G (in MFS; dbSNP:rs794728326)" FT /evidence="ECO:0000269|PubMed:7951214" FT /id="VAR_002282" FT VARIANT 488 FT /note="C -> R (in MFS; dbSNP:rs1555400373)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076009" FT VARIANT 490 FT /note="D -> Y (in MFS; dbSNP:rs1555400371)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_002283" FT VARIANT 499 FT /note="C -> Y (in MFS; dbSNP:rs587782944)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065982" FT VARIANT 504 FT /note="C -> F (in MFS; dbSNP:rs1156747241)" FT /evidence="ECO:0000269|PubMed:10425041" FT /id="VAR_010776" FT VARIANT 504 FT /note="C -> R (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1555400288)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076010" FT VARIANT 507 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023864" FT VARIANT 515..516 FT /note="CR -> WG (in MFS)" FT /evidence="ECO:0000269|PubMed:19941982" FT /id="VAR_080327" FT VARIANT 541 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023865" FT VARIANT 545 FT /note="R -> C (in MFS and ECTOL1; dbSNP:rs730880099)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:9338581" FT /id="VAR_002284" FT VARIANT 546 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076011" FT VARIANT 548 FT /note="N -> I (in MFS; dbSNP:rs137854462)" FT /evidence="ECO:0000269|PubMed:8406497" FT /id="VAR_002285" FT VARIANT 560 FT /note="G -> S (in MFS; dbSNP:rs1064794283)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017974" FT VARIANT 565..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076012" FT VARIANT 570 FT /note="C -> Y (in MFS; dbSNP:rs1555400049)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017975" FT VARIANT 576 FT /note="C -> Y (in MFS; dbSNP:rs1555399974)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076013" FT VARIANT 582 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076014" FT VARIANT 587 FT /note="C -> Y (in MFS; dbSNP:rs1555399963)" FT /evidence="ECO:0000269|PubMed:12203992, FT ECO:0000269|PubMed:9254848" FT /id="VAR_002286" FT VARIANT 592 FT /note="G -> D (in MFS; dbSNP:rs1555399959)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017976" FT VARIANT 596 FT /note="C -> R (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076015" FT VARIANT 596 FT /note="C -> Y (in MFS; dbSNP:rs2043732180)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017977" FT VARIANT 598 FT /note="C -> W (in MFS; dbSNP:rs1555399954)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017978" FT VARIANT 611 FT /note="C -> R (in MFS; dbSNP:rs1555399944)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065983" FT VARIANT 617 FT /note="C -> G (in MFS; dbSNP:rs1060501017)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065984" FT VARIANT 623 FT /note="C -> F (in MFS; dbSNP:rs1566914030)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076016" FT VARIANT 627 FT /note="R -> C (in MFS; enhances proteolytic degradation; FT dbSNP:rs727503057)" FT /evidence="ECO:0000269|PubMed:12161601, FT ECO:0000269|PubMed:15161917, ECO:0000269|PubMed:16220557, FT ECO:0000269|PubMed:8004112, ECO:0000269|PubMed:9338581" FT /id="VAR_002287" FT VARIANT 629..633 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023867" FT VARIANT 634 FT /note="S -> P (in ECTOL1; dbSNP:rs1566914005)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076017" FT VARIANT 635 FT /note="Y -> C (in MFS; dbSNP:rs1555399816)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:18435798" FT /id="VAR_023868" FT VARIANT 636 FT /note="R -> I (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023869" FT VARIANT 652 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_017979" FT VARIANT 652 FT /note="C -> Y (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs2043696418)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076018" FT VARIANT 653..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076019" FT VARIANT 654 FT /note="D -> N (in MFS)" FT /evidence="ECO:0000269|PubMed:12161601, FT ECO:0000269|PubMed:12203992" FT /id="VAR_017980" FT VARIANT 661 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:9016526" FT /id="VAR_002288" FT VARIANT 661 FT /note="C -> Y (in ECTOL1; patient presenting also mitral FT valve prolapse; dbSNP:rs1060501086)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017981" FT VARIANT 681 FT /note="S -> Y (in MFS; dbSNP:rs1555399766)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017982" FT VARIANT 683 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017983" FT VARIANT 684 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076020" FT VARIANT 685 FT /note="C -> W (in MFS; dbSNP:rs140603)" FT /evidence="ECO:0000269|PubMed:12203992, FT ECO:0000269|PubMed:21542060" FT /id="VAR_017984" FT VARIANT 685 FT /note="C -> Y (in MFS; dbSNP:rs1555399761)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065985" FT VARIANT 699 FT /note="C -> S (in MFS; dbSNP:rs2043684108)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076021" FT VARIANT 705 FT /note="A -> T (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:8863159" FT /id="VAR_002289" FT VARIANT 711 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:8863159" FT /id="VAR_002290" FT VARIANT 721 FT /note="G -> C (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076022" FT VARIANT 723 FT /note="D -> A (in MFS; dbSNP:rs137854463)" FT /evidence="ECO:0000269|PubMed:8406497" FT /id="VAR_002291" FT VARIANT 723 FT /note="D -> V (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017985" FT VARIANT 727 FT /note="C -> Y (in MFS; dbSNP:rs1555399381)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076023" FT VARIANT 734 FT /note="C -> F (in MFS; dbSNP:rs794728187)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017986" FT VARIANT 746 FT /note="Y -> C (in MFS; dbSNP:rs1555399372)" FT /evidence="ECO:0000269|PubMed:7611299" FT /id="VAR_002292" FT VARIANT 748 FT /note="C -> Y (in MFS; dbSNP:rs1064794282)" FT /evidence="ECO:0000269|PubMed:12161601, FT ECO:0000269|PubMed:12203992" FT /id="VAR_017987" FT VARIANT 750 FT /note="C -> G (in MFS; enhances proteolytic degradation)" FT /evidence="ECO:0000269|PubMed:15161917, FT ECO:0000269|PubMed:9338581" FT /id="VAR_002293" FT VARIANT 752..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076024" FT VARIANT 776 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017988" FT VARIANT 776 FT /note="C -> Y (in MFS; dbSNP:rs1555399273)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017989" FT VARIANT 781 FT /note="C -> R (in MFS; dbSNP:rs397515766)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:12203992" FT /id="VAR_017990" FT VARIANT 781 FT /note="C -> Y (in MFS; dbSNP:rs1555399271)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023870" FT VARIANT 790 FT /note="C -> Y (in MFS; dbSNP:rs193922188)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065986" FT VARIANT 811 FT /note="C -> Y (in MFS; dbSNP:rs1555399210)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065987" FT VARIANT 816 FT /note="C -> R (in MFS; dbSNP:rs1555399206)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076025" FT VARIANT 816 FT /note="C -> S (in MFS; dbSNP:rs397515770)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_017991" FT VARIANT 828 FT /note="F -> C (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076026" FT VARIANT 832 FT /note="C -> Y (in MFS; dbSNP:rs397515775)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:17657824" FT /id="VAR_023871" FT VARIANT 853 FT /note="C -> S (in MFS; dbSNP:rs1555399165)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065988" FT VARIANT 861..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:19533785" FT /id="VAR_076027" FT VARIANT 862 FT /note="C -> R (in MFS; dbSNP:rs2043595650)" FT /evidence="ECO:0000269|PubMed:8281141" FT /id="VAR_002294" FT VARIANT 880 FT /note="G -> S (in MFS; dbSNP:rs794728194)" FT /evidence="ECO:0000269|PubMed:12402346, FT ECO:0000269|PubMed:18435798, ECO:0000269|PubMed:22772377" FT /id="VAR_076028" FT VARIANT 882 FT /note="A -> V (in MFS and ECTOL1; dbSNP:rs794728195)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076029" FT VARIANT 884 FT /note="G -> E (in MFS; dbSNP:rs1555399149)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076030" FT VARIANT 890 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023872" FT VARIANT 890 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:11826022" FT /id="VAR_017992" FT VARIANT 908 FT /note="C -> R (in MFS; dbSNP:rs1060501021)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017993" FT VARIANT 908 FT /note="C -> Y (in MFS; dbSNP:rs1057523406)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076031" FT VARIANT 910 FT /note="D -> H (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076032" FT VARIANT 913 FT /note="E -> G (in MFS; dbSNP:rs1555398995)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017994" FT VARIANT 921..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076033" FT VARIANT 921 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_017995" FT VARIANT 926 FT /note="C -> R (in MFS; enhances proteolytic degradation)" FT /evidence="ECO:0000269|PubMed:15161917, FT ECO:0000269|PubMed:7611299" FT /id="VAR_002295" FT VARIANT 926 FT /note="C -> Y (in MFS; dbSNP:rs1555398989)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065989" FT VARIANT 937 FT /note="C -> R (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076034" FT VARIANT 954 FT /note="R -> C (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1555398835)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076035" FT VARIANT 966..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076036" FT VARIANT 974 FT /note="R -> C (in MFS; dbSNP:rs397514558)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076037" FT VARIANT 976 FT /note="R -> H (in MFS; dbSNP:rs140954477)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076038" FT VARIANT 984 FT /note="V -> I (in MFS; dbSNP:rs747713929)" FT /evidence="ECO:0000269|PubMed:10694921" FT /id="VAR_002296" FT VARIANT 985 FT /note="G -> E (in MFS; atypical; dbSNP:rs137854477)" FT /evidence="ECO:0000269|PubMed:10441597" FT /id="VAR_018319" FT VARIANT 985 FT /note="G -> R (in MFS; dbSNP:rs794728199)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:16220557" FT /id="VAR_017996" FT VARIANT 988..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076039" FT VARIANT 994..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076040" FT VARIANT 996 FT /note="C -> R (in MFS; dbSNP:rs140592)" FT /evidence="ECO:0000269|PubMed:9401003" FT /id="VAR_002297" FT VARIANT 1008 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076041" FT VARIANT 1013 FT /note="G -> R (in MFS; severe neonatal; dbSNP:rs140593)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:16220557, FT ECO:0000269|PubMed:7611299" FT /id="VAR_002298" FT VARIANT 1020 FT /note="T -> A (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs111801777)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076042" FT VARIANT 1023 FT /note="K -> N (in MFS; severe neonatal)" FT /evidence="ECO:0000269|PubMed:8136837" FT /id="VAR_002299" FT VARIANT 1028 FT /note="D -> G (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076043" FT VARIANT 1032 FT /note="C -> Y (in MFS; severe neonatal; dbSNP:rs137854481)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076044" FT VARIANT 1042 FT /note="G -> S (in MFS; dbSNP:rs1555398681)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076045" FT VARIANT 1043 FT /note="K -> R (in MFS; dbSNP:rs137854472)" FT /evidence="ECO:0000269|PubMed:9016526" FT /id="VAR_002300" FT VARIANT 1044 FT /note="C -> Y (in MFS; dbSNP:rs730880100)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_017997" FT VARIANT 1048 FT /note="I -> T (in MFS; severe neonatal; FT dbSNP:rs1555398673)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:9401003" FT /id="VAR_002301" FT VARIANT 1048 FT /note="I -> V (in dbSNP:rs2229324)" FT /id="VAR_055726" FT VARIANT 1048 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:9401003" FT /id="VAR_002302" FT VARIANT 1053 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:8882780" FT /id="VAR_002303" FT VARIANT 1055 FT /note="C -> G (in MFS; neonatal; dbSNP:rs1597564258)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:8863159" FT /id="VAR_002304" FT VARIANT 1055 FT /note="C -> W (in MFS; dbSNP:rs1060501040)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017998" FT VARIANT 1055 FT /note="C -> Y (in MFS; dbSNP:rs397515786)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_017999" FT VARIANT 1058 FT /note="G -> D (in MFS; dbSNP:rs794728202)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023873" FT VARIANT 1058 FT /note="G -> GC (in MFS)" FT /evidence="ECO:0000269|PubMed:9401003" FT /id="VAR_002305" FT VARIANT 1068 FT /note="C -> G (in MFS; neonatal form; dbSNP:rs1293095681)" FT /evidence="ECO:0000269|PubMed:20803651" FT /id="VAR_064503" FT VARIANT 1072 FT /note="D -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:8882780" FT /id="VAR_002306" FT VARIANT 1073 FT /note="E -> K (in MFS; severe neonatal; dbSNP:rs137854478)" FT /evidence="ECO:0000269|PubMed:7611299, FT ECO:0000269|PubMed:8882780" FT /id="VAR_002307" FT VARIANT 1074 FT /note="C -> R (in MFS; severe neonatal; dbSNP:rs137854465)" FT /evidence="ECO:0000269|PubMed:8136837, FT ECO:0000269|PubMed:9338581" FT /id="VAR_002308" FT VARIANT 1074 FT /note="C -> Y (in MFS; severe neonatal; FT dbSNP:rs1555398645)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076046" FT VARIANT 1086..2871 FT /note="Missing (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076047" FT VARIANT 1086 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:9401003" FT /id="VAR_002309" FT VARIANT 1088 FT /note="N -> I (in MFS; severe neonatal)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076048" FT VARIANT 1090 FT /note="P -> S (in MFS; dbSNP:rs1555398633)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065990" FT VARIANT 1101 FT /note="Y -> C (in MFS; dbSNP:rs1555398625)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:12402346, ECO:0000269|PubMed:14695540" FT /id="VAR_018000" FT VARIANT 1113 FT /note="D -> G (in dbSNP:rs140597)" FT /id="VAR_055727" FT VARIANT 1113 FT /note="D -> V (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023874" FT VARIANT 1117 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:8882780" FT /id="VAR_002310" FT VARIANT 1117 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076049" FT VARIANT 1117 FT /note="C -> Y (in MFS; dbSNP:rs137854470)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:8281141" FT /id="VAR_002311" FT VARIANT 1125..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:18435798" FT /id="VAR_076050" FT VARIANT 1127 FT /note="G -> S (in MFS; mild form; dbSNP:rs137854468)" FT /evidence="ECO:0000269|PubMed:7762551" FT /id="VAR_002312" FT VARIANT 1128 FT /note="V -> I (in a patient with mitral valve prolapse)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018001" FT VARIANT 1129 FT /note="C -> Y (in MFS; dbSNP:rs137854482)" FT /evidence="ECO:0000269|PubMed:10425041" FT /id="VAR_010777" FT VARIANT 1130 FT /note="H -> P (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076051" FT VARIANT 1131 FT /note="N -> Y (in dbSNP:rs137854473)" FT /id="VAR_002313" FT VARIANT 1136..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076052" FT VARIANT 1137 FT /note="R -> P (in MFS; dbSNP:rs137854456)" FT /evidence="ECO:0000269|PubMed:1852208, FT ECO:0000269|PubMed:8281141" FT /id="VAR_002314" FT VARIANT 1138 FT /note="C -> Y (in MFS; dbSNP:rs397515791)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076053" FT VARIANT 1140..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076054" FT VARIANT 1148 FT /note="P -> A (in dbSNP:rs140598)" FT /evidence="ECO:0000269|PubMed:20547088, FT ECO:0000269|PubMed:8281141, ECO:0000269|PubMed:8988160, FT ECO:0000269|PubMed:9150726, ECO:0000269|PubMed:9338588" FT /id="VAR_002315" FT VARIANT 1153 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023875" FT VARIANT 1153 FT /note="C -> Y (in MFS; severe; dbSNP:rs140599)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:8863159" FT /id="VAR_002316" FT VARIANT 1155 FT /note="D -> N (in MFS and ECTOL1; dbSNP:rs794728204)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:17657824" FT /id="VAR_002317" FT VARIANT 1158 FT /note="E -> G (in MFS; dbSNP:rs1597562926)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076055" FT VARIANT 1170 FT /note="R -> H (in MFS; dbSNP:rs137854475)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:7870075, ECO:0000269|PubMed:9338581" FT /id="VAR_002318" FT VARIANT 1171 FT /note="C -> W (in MFS; dbSNP:rs775417975)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002319" FT VARIANT 1173 FT /note="N -> K (in MFS)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002320" FT VARIANT 1182 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076056" FT VARIANT 1185 FT /note="G -> D (in MFS; dbSNP:rs1555398512)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065991" FT VARIANT 1199 FT /note="D -> A (in MFS)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076057" FT VARIANT 1200 FT /note="E -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:11826022" FT /id="VAR_018002" FT VARIANT 1211 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023876" FT VARIANT 1219 FT /note="Y -> C (in MFS; dbSNP:rs1555398394)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023877" FT VARIANT 1223 FT /note="C -> R (in MFS; severe neonatal)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076058" FT VARIANT 1223 FT /note="C -> Y (in MFS; also found in a patient with FT Shprintzen-Goldberg craniosynostosis syndrome; FT dbSNP:rs137854469)" FT /evidence="ECO:0000269|PubMed:8071963, ECO:0000269|Ref.76" FT /id="VAR_002321" FT VARIANT 1242 FT /note="C -> Y (in MFS; dbSNP:rs137854471)" FT /evidence="ECO:0000269|PubMed:8136837" FT /id="VAR_002322" FT VARIANT 1249 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076059" FT VARIANT 1249 FT /note="C -> S (in MFS; dbSNP:rs137854458)" FT /evidence="ECO:0000269|PubMed:1301946" FT /id="VAR_002323" FT VARIANT 1261 FT /note="Y -> C (in MFS)" FT /evidence="ECO:0000269|PubMed:10425041" FT /id="VAR_010778" FT VARIANT 1261 FT /note="Y -> D (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023878" FT VARIANT 1265 FT /note="C -> R (in MFS; dbSNP:rs137854474)" FT /evidence="ECO:0000269|PubMed:9837823" FT /id="VAR_018320" FT VARIANT 1265 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076060" FT VARIANT 1278 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023879" FT VARIANT 1282 FT /note="N -> S (in dbSNP:rs140647)" FT /id="VAR_055728" FT VARIANT 1284 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023880" FT VARIANT 1284 FT /note="C -> Y (in MFS; dbSNP:rs1555398173)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065992" FT VARIANT 1307 FT /note="C -> Y (in MFS; severe neonatal)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076061" FT VARIANT 1320 FT /note="C -> R (in MFS; dbSNP:rs1597558920)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076062" FT VARIANT 1325 FT /note="E -> Q (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018003" FT VARIANT 1326 FT /note="C -> R (in MFS; severe neonatal)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076063" FT VARIANT 1333 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023881" FT VARIANT 1337 FT /note="A -> P (in MFS; neonatal; dbSNP:rs753648789)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018004" FT VARIANT 1339 FT /note="C -> Y (in MFS; dbSNP:rs397515798)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018005" FT VARIANT 1346 FT /note="F -> L (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076064" FT VARIANT 1350 FT /note="C -> F (in MFS; dbSNP:rs1555397718)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065993" FT VARIANT 1366 FT /note="E -> K (in MFS; dbSNP:rs763449629)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:17657824" FT /id="VAR_018006" FT VARIANT 1374 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018007" FT VARIANT 1382 FT /note="N -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:7611299" FT /id="VAR_002324" FT VARIANT 1389 FT /note="C -> R (in MFS; dbSNP:rs193922203)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018008" FT VARIANT 1394..1396 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018009" FT VARIANT 1401 FT /note="T -> A (in MFS; dbSNP:rs1420739555)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065994" FT VARIANT 1402 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023882" FT VARIANT 1402 FT /note="C -> Y (in MFS; dbSNP:rs1555397646)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076065" FT VARIANT 1404 FT /note="D -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002325" FT VARIANT 1406 FT /note="D -> G (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs2043386794)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076066" FT VARIANT 1424 FT /note="P -> A (in MFS; dbSNP:rs201273753)" FT /evidence="ECO:0000269|PubMed:14695540, FT ECO:0000269|PubMed:17657824" FT /id="VAR_018010" FT VARIANT 1424 FT /note="P -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023883" FT VARIANT 1427 FT /note="Y -> D (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076067" FT VARIANT 1429 FT /note="C -> S (in MFS; dbSNP:rs1555397546)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018011" FT VARIANT 1431 FT /note="C -> W (in MFS; dbSNP:rs112375043)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065995" FT VARIANT 1431 FT /note="C -> Y (in MFS; dbSNP:rs1555397540)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065996" FT VARIANT 1475 FT /note="G -> E (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023884" FT VARIANT 1475 FT /note="G -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023885" FT VARIANT 1481 FT /note="S -> G (in dbSNP:rs61730054)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065997" FT VARIANT 1485 FT /note="C -> R (in MFS; dbSNP:rs730880101)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076068" FT VARIANT 1487 FT /note="D -> A (in MFS)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065998" FT VARIANT 1489 FT /note="N -> K (in MFS; dbSNP:rs193922205)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_065999" FT VARIANT 1513 FT /note="C -> R (in MFS; dbSNP:rs112723282)" FT /evidence="ECO:0000269|PubMed:8136837" FT /id="VAR_002326" FT VARIANT 1528 FT /note="D -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076069" FT VARIANT 1530 FT /note="R -> C (in MFS and ECTOL1; dbSNP:rs111401431)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:19941982" FT /id="VAR_018012" FT VARIANT 1534..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076070" FT VARIANT 1539..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798, FT ECO:0000269|PubMed:22772377" FT /id="VAR_076071" FT VARIANT 1541..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:12161601, FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:18435798" FT /id="VAR_076072" FT VARIANT 1564 FT /note="C -> F (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023886" FT VARIANT 1564 FT /note="C -> S (in SSKS; dbSNP:rs267606800)" FT /evidence="ECO:0000269|PubMed:20375004" FT /id="VAR_064046" FT VARIANT 1564 FT /note="C -> Y (in MFS; dbSNP:rs267606800)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018013" FT VARIANT 1570 FT /note="W -> C (in SSKS; dbSNP:rs267606799)" FT /evidence="ECO:0000269|PubMed:20375004" FT /id="VAR_064047" FT VARIANT 1576 FT /note="M -> T (in MFS; dbSNP:rs776625874)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023887" FT VARIANT 1577 FT /note="C -> G (in SSKS; dbSNP:rs267606801)" FT /evidence="ECO:0000269|PubMed:20375004" FT /id="VAR_064048" FT VARIANT 1589 FT /note="C -> F (in MFS; dbSNP:rs1555397024)" FT /evidence="ECO:0000269|PubMed:8281141" FT /id="VAR_002327" FT VARIANT 1594 FT /note="G -> D (in SSKS; dbSNP:rs267606798)" FT /evidence="ECO:0000269|PubMed:20375004" FT /id="VAR_064049" FT VARIANT 1610 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002328" FT VARIANT 1622 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076073" FT VARIANT 1631 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:18435798" FT /id="VAR_023888" FT VARIANT 1633 FT /note="C -> S (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076074" FT VARIANT 1642 FT /note="D -> G (in MFS; dbSNP:rs1597546984)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076075" FT VARIANT 1644..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076076" FT VARIANT 1663 FT /note="C -> R (in MFS; dbSNP:rs137854459)" FT /evidence="ECO:0000269|PubMed:1301946" FT /id="VAR_002329" FT VARIANT 1663 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023889" FT VARIANT 1672 FT /note="C -> F (in dbSNP:rs140627)" FT /id="VAR_055729" FT VARIANT 1672 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076077" FT VARIANT 1672 FT /note="C -> Y (in MFS; dbSNP:rs140627)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076078" FT VARIANT 1674 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076079" FT VARIANT 1692..1699 FT /note="Missing (in WMS2)" FT /evidence="ECO:0000269|PubMed:12525539" FT /id="VAR_018014" FT VARIANT 1692 FT /note="Missing (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076080" FT VARIANT 1696 FT /note="Y -> C (in GPHYSD2; dbSNP:rs387906625)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066527" FT VARIANT 1699 FT /note="Y -> C (in GPHYSD2 and ACMICD; dbSNP:rs387906622)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066528" FT VARIANT 1699 FT /note="Y -> D (in GPHYSD2)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066529" FT VARIANT 1700 FT /note="Y -> C (in ACMICD; dbSNP:rs387906626)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066530" FT VARIANT 1706 FT /note="C -> Y (in GPHYSD2)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066531" FT VARIANT 1714 FT /note="M -> R (in ACMICD)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066532" FT VARIANT 1719 FT /note="C -> W (in GPHYSD2)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066533" FT VARIANT 1720 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076081" FT VARIANT 1722 FT /note="S -> C (in ACMICD)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066534" FT VARIANT 1726 FT /note="G -> V (in ACMICD; dbSNP:rs1064797059)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066535" FT VARIANT 1728 FT /note="A -> T (in GPHYSD2 and ACMICD; dbSNP:rs387906624)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066536" FT VARIANT 1728 FT /note="A -> V (in GPHYSD2; dbSNP:rs1131691804)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066537" FT VARIANT 1733 FT /note="C -> Y (in GPHYSD2)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066538" FT VARIANT 1735..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076082" FT VARIANT 1735 FT /note="Q -> QQ (in ACMICD)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066539" FT VARIANT 1750 FT /note="S -> R (in ACMICD; dbSNP:rs1131692052)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066540" FT VARIANT 1758 FT /note="D -> V (in ACMICD)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066541" FT VARIANT 1762 FT /note="G -> S (in GPHYSD2; dbSNP:rs387906623)" FT /evidence="ECO:0000269|PubMed:21683322" FT /id="VAR_066542" FT VARIANT 1770 FT /note="C -> F (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018015" FT VARIANT 1777 FT /note="C -> F (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076083" FT VARIANT 1790..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076084" FT VARIANT 1790 FT /note="R -> P (in MFS; dbSNP:rs1555396428)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:12203992" FT /id="VAR_018016" FT VARIANT 1791 FT /note="C -> R (in MFS; dbSNP:rs1555396427)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023890" FT VARIANT 1791 FT /note="C -> Y (in MFS; dbSNP:rs886038848)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018017" FT VARIANT 1793 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018018" FT VARIANT 1793 FT /note="C -> Y (in MFS; dbSNP:rs1597540854)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076085" FT VARIANT 1796..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076086" FT VARIANT 1796 FT /note="G -> E (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018019" FT VARIANT 1796 FT /note="G -> V (in MFS; dbSNP:rs2043240309)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076087" FT VARIANT 1806 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992, FT ECO:0000269|PubMed:17657824" FT /id="VAR_018020" FT VARIANT 1806 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:12402346" FT /id="VAR_023891" FT VARIANT 1811 FT /note="E -> K (in MFS; dbSNP:rs761857514)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:18435798" FT /id="VAR_076088" FT VARIANT 1812 FT /note="C -> R (in MFS; dbSNP:rs1597537935)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076089" FT VARIANT 1812 FT /note="C -> Y (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1555396213)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076090" FT VARIANT 1826 FT /note="N -> S (in MFS; dbSNP:rs2043210015)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076091" FT VARIANT 1830 FT /note="S -> C (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076092" FT VARIANT 1833 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:10425041" FT /id="VAR_010779" FT VARIANT 1835 FT /note="C -> F (in MFS; dbSNP:rs111929350)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076093" FT VARIANT 1835 FT /note="C -> Y (in MFS; dbSNP:rs111929350)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:11826022, ECO:0000269|PubMed:12161601" FT /id="VAR_018021" FT VARIANT 1837 FT /note="P -> S (in MFS; dbSNP:rs755430984)" FT /evidence="ECO:0000269|PubMed:9401003" FT /id="VAR_002330" FT VARIANT 1838 FT /note="G -> C (in MFS; dbSNP:rs397515823)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066000" FT VARIANT 1847 FT /note="C -> R (in MFS; dbSNP:rs1555396186)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076094" FT VARIANT 1847 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076095" FT VARIANT 1860 FT /note="C -> Y (in MFS; dbSNP:rs1597535300)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076096" FT VARIANT 1865 FT /note="C -> R (in MFS; dbSNP:rs1555395984)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076097" FT VARIANT 1876 FT /note="C -> Y (in MFS; dbSNP:rs112728248)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023892" FT VARIANT 1879 FT /note="G -> D (in MFS; dbSNP:rs2043178850)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076098" FT VARIANT 1887 FT /note="T -> I (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023893" FT VARIANT 1893 FT /note="N -> K (in MFS; dbSNP:rs1597533706)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002331" FT VARIANT 1894 FT /note="E -> K (in MFS; dbSNP:rs1057521101)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076099" FT VARIANT 1895 FT /note="C -> R (in MFS; dbSNP:rs878853686)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023894" FT VARIANT 1900 FT /note="C -> Y (in MFS; dbSNP:rs794728237)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:18435798, ECO:0000269|PubMed:21542060" FT /id="VAR_023895" FT VARIANT 1907 FT /note="N -> S (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1060501087)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076100" FT VARIANT 1908 FT /note="T -> I (in MFS; dbSNP:rs1304811982)" FT /evidence="ECO:0000269|PubMed:12402346" FT /id="VAR_076101" FT VARIANT 1909 FT /note="I -> T (in MFS; dbSNP:rs794728333)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:21542060" FT /id="VAR_018022" FT VARIANT 1915 FT /note="R -> S (in MFS; dbSNP:rs1555395826)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018023" FT VARIANT 1919 FT /note="G -> D (in MFS)" FT /evidence="ECO:0000269|PubMed:12402346" FT /id="VAR_076102" FT VARIANT 1928 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023896" FT VARIANT 1928 FT /note="C -> R (in MFS; dbSNP:rs2043162224)" FT /evidence="ECO:0000269|PubMed:7611299" FT /id="VAR_002332" FT VARIANT 1928 FT /note="C -> Y (in MFS; dbSNP:rs587782947)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023897" FT VARIANT 1930 FT /note="D -> H (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076103" FT VARIANT 1931 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_018024" FT VARIANT 1934 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076104" FT VARIANT 1934 FT /note="C -> S (in MFS; dbSNP:rs1555395767 and FT dbSNP:rs794728240)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066001" FT VARIANT 1971 FT /note="C -> Y (in MFS; dbSNP:rs111239111)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018025" FT VARIANT 1976 FT /note="E -> G (in MFS; dbSNP:rs1555395665)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066002" FT VARIANT 1977 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:12161601" FT /id="VAR_076105" FT VARIANT 1977 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076106" FT VARIANT 1977 FT /note="C -> Y (in MFS; dbSNP:rs1555395663)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018026" FT VARIANT 1984 FT /note="C -> R (in MFS; dbSNP:rs1555395659)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066003" FT VARIANT 1987 FT /note="G -> R (in MFS; dbSNP:rs727504642)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076107" FT VARIANT 1998 FT /note="C -> Y (in MFS; dbSNP:rs1085307531)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_018027" FT VARIANT 2018 FT /note="V -> I (in dbSNP:rs363802)" FT /id="VAR_055730" FT VARIANT 2038 FT /note="C -> Y (in MFS; dbSNP:rs363804)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023898" FT VARIANT 2053..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076108" FT VARIANT 2053 FT /note="C -> F (in dbSNP:rs363805)" FT /id="VAR_055731" FT VARIANT 2057..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076109" FT VARIANT 2062..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076110" FT VARIANT 2064..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076111" FT VARIANT 2081..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:22772377" FT /id="VAR_076112" FT VARIANT 2084 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076113" FT VARIANT 2084 FT /note="C -> Y (in MFS; dbSNP:rs794728245)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076114" FT VARIANT 2085 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023899" FT VARIANT 2099 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002333" FT VARIANT 2101 FT /note="T -> M (in dbSNP:rs200816828)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_018028" FT VARIANT 2105 FT /note="E -> K (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076115" FT VARIANT 2111 FT /note="C -> R (in MFS; dbSNP:rs363815)" FT /evidence="ECO:0000269|PubMed:11826022" FT /id="VAR_018029" FT VARIANT 2111 FT /note="C -> Y (in MFS; dbSNP:rs1131691467)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002334" FT VARIANT 2113 FT /note="Y -> F (in dbSNP:rs363816)" FT /id="VAR_055732" FT VARIANT 2118 FT /note="I -> M (in MFS; dbSNP:rs112989722)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076116" FT VARIANT 2127 FT /note="D -> E (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:8136837" FT /id="VAR_002335" FT VARIANT 2130 FT /note="E -> K (in MFS; dbSNP:rs794728334)" FT /evidence="ECO:0000269|PubMed:18435798, FT ECO:0000269|PubMed:19533785" FT /id="VAR_076117" FT VARIANT 2136 FT /note="V -> D (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076118" FT VARIANT 2142 FT /note="C -> Y (in MFS; dbSNP:rs794728335)" FT /evidence="ECO:0000269|PubMed:10425041" FT /id="VAR_010780" FT VARIANT 2144 FT /note="N -> D (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076119" FT VARIANT 2144 FT /note="N -> S (in MFS; dbSNP:rs137854461)" FT /evidence="ECO:0000269|PubMed:16220557, FT ECO:0000269|PubMed:19533785, ECO:0000269|PubMed:8504310" FT /id="VAR_002336" FT VARIANT 2145 FT /note="T -> P (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076120" FT VARIANT 2151 FT /note="C -> W (in MFS; dbSNP:rs794728251)" FT /evidence="ECO:0000269|PubMed:8136837" FT /id="VAR_002337" FT VARIANT 2153 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076121" FT VARIANT 2154 FT /note="P -> R (in ECTOL1; dbSNP:rs756219617)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018030" FT VARIANT 2160 FT /note="A -> P (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023900" FT VARIANT 2166 FT /note="D -> N (in MFS; dbSNP:rs794728252)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066004" FT VARIANT 2169..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076122" FT VARIANT 2170 FT /note="C -> F (in dbSNP:rs363821)" FT /id="VAR_055733" FT VARIANT 2185 FT /note="I -> T (in MFS; dbSNP:rs910656654)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:21542060" FT /id="VAR_066005" FT VARIANT 2195 FT /note="G -> R (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs886038976)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076123" FT VARIANT 2220..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:22772377" FT /id="VAR_076124" FT VARIANT 2221 FT /note="C -> F (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023901" FT VARIANT 2221 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_018031" FT VARIANT 2221 FT /note="C -> R (in MFS; dbSNP:rs113543334)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076125" FT VARIANT 2221 FT /note="C -> S (in MFS; dbSNP:rs137854460)" FT /evidence="ECO:0000269|PubMed:1301946" FT /id="VAR_002338" FT VARIANT 2223 FT /note="N -> H (in MFS; dbSNP:rs1555394919)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018032" FT VARIANT 2224 FT /note="T -> P (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076126" FT VARIANT 2229..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076127" FT VARIANT 2232 FT /note="C -> Y (in MFS; dbSNP:rs1060501054)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076128" FT VARIANT 2234 FT /note="V -> M (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs112084407)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076129" FT VARIANT 2247 FT /note="D -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066006" FT VARIANT 2250 FT /note="E -> G (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076130" FT VARIANT 2251 FT /note="C -> R (in MFS; dbSNP:rs112836174)" FT /evidence="ECO:0000269|PubMed:12402346" FT /id="VAR_023902" FT VARIANT 2258 FT /note="C -> R (in MFS; dbSNP:rs1057520617)" FT /evidence="ECO:0000269|PubMed:9338581" FT /id="VAR_002339" FT VARIANT 2258 FT /note="C -> Y (in MFS; dbSNP:rs886039047)" FT /evidence="ECO:0000269|PubMed:12161601" FT /id="VAR_076131" FT VARIANT 2269 FT /note="I -> T (in MFS; dbSNP:rs193922228)" FT /evidence="ECO:0000269|PubMed:12203992, FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:18435798" FT /id="VAR_018033" FT VARIANT 2272 FT /note="Y -> C (in ECTOL1)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076132" FT VARIANT 2273 FT /note="M -> T (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs754270535)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076133" FT VARIANT 2274 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076134" FT VARIANT 2278 FT /note="P -> S (in dbSNP:rs363835)" FT /id="VAR_055734" FT VARIANT 2282 FT /note="R -> W (in MFS; dbSNP:rs765205164)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:9338581" FT /id="VAR_002340" FT VARIANT 2284 FT /note="P -> T (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076135" FT VARIANT 2289 FT /note="C -> W (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076136" FT VARIANT 2298..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076137" FT VARIANT 2302 FT /note="C -> Y (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs2042998789)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076138" FT VARIANT 2307 FT /note="C -> S (in MFS; dbSNP:rs137854457)" FT /evidence="ECO:0000269|PubMed:1301946, FT ECO:0000269|PubMed:1569206" FT /id="VAR_002341" FT VARIANT 2318 FT /note="C -> R (in MFS; dbSNP:rs111588631)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066007" FT VARIANT 2329 FT /note="D -> E (in dbSNP:rs363831)" FT /id="VAR_055735" FT VARIANT 2335 FT /note="R -> W (in MFS; dbSNP:rs794728262)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_018034" FT VARIANT 2339 FT /note="C -> Y (in ECTOL1; patient presenting also flat FT corneas; dbSNP:rs1555394580)" FT /evidence="ECO:0000269|PubMed:12203992" FT /id="VAR_018035" FT VARIANT 2365 FT /note="C -> Y (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs397515845)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076139" FT VARIANT 2385 FT /note="A -> T (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023903" FT VARIANT 2394..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:12161601" FT /id="VAR_076140" FT VARIANT 2406 FT /note="C -> Y (in MFS; dbSNP:rs1131691479)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:21542060" FT /id="VAR_018036" FT VARIANT 2442 FT /note="C -> S (in MFS; dbSNP:rs1555394435)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066008" FT VARIANT 2442 FT /note="C -> W (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_018037" FT VARIANT 2447 FT /note="E -> K (in ECTOL1 and MFS; dbSNP:rs137854464)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:8136837, ECO:0000269|PubMed:8188302" FT /id="VAR_002342" FT VARIANT 2448 FT /note="C -> R (in ECTOL1; dbSNP:rs1566892757)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076141" FT VARIANT 2466..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:12161601" FT /id="VAR_076142" FT VARIANT 2467..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:12161601" FT /id="VAR_076143" FT VARIANT 2470 FT /note="C -> W (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs1555394397)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076144" FT VARIANT 2470 FT /note="C -> Y (in MFS; dbSNP:rs1555394398)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076145" FT VARIANT 2474 FT /note="Y -> C (in MFS; dbSNP:rs869025415)" FT /evidence="ECO:0000269|PubMed:11826022" FT /id="VAR_018038" FT VARIANT 2489 FT /note="C -> R (in MFS; dbSNP:rs1057520728)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:9338581" FT /id="VAR_002343" FT VARIANT 2500 FT /note="C -> R (in MFS; dbSNP:rs363810)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023904" FT VARIANT 2500 FT /note="C -> Y (in MFS; dbSNP:rs794728160)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023905" FT VARIANT 2511 FT /note="C -> R (in MFS; dbSNP:rs794728272)" FT /evidence="ECO:0000269|PubMed:21542060, FT ECO:0000269|PubMed:8136837, ECO:0000269|PubMed:9016526" FT /id="VAR_002344" FT VARIANT 2516 FT /note="T -> I (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs2042946390)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076146" FT VARIANT 2520 FT /note="T -> M (in MFS; dbSNP:rs763759308)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076147" FT VARIANT 2522 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076148" FT VARIANT 2526 FT /note="N -> S (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs794728336)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076149" FT VARIANT 2535 FT /note="C -> W (in MFS; dbSNP:rs113544411)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023906" FT VARIANT 2536 FT /note="G -> R (in MFS; dbSNP:rs397515854)" FT /evidence="ECO:0000269|PubMed:16220557, FT ECO:0000269|PubMed:17657824" FT /id="VAR_023907" FT VARIANT 2541 FT /note="C -> F (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076150" FT VARIANT 2542..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076151" FT VARIANT 2554 FT /note="R -> W (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs369294972)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076152" FT VARIANT 2555 FT /note="G -> V (in MFS; dbSNP:rs1566891654)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076153" FT VARIANT 2561 FT /note="T -> P (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076154" FT VARIANT 2570 FT /note="E -> K (in MFS; dbSNP:rs886038786)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:18435798" FT /id="VAR_023908" FT VARIANT 2571..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076155" FT VARIANT 2571 FT /note="C -> R (in MFS; dbSNP:rs2042934926)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023909" FT VARIANT 2577 FT /note="C -> R (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076156" FT VARIANT 2577 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076157" FT VARIANT 2581 FT /note="C -> F (in MFS; dbSNP:rs1555394149)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018039" FT VARIANT 2585 FT /note="I -> T (in MFS; dbSNP:rs727503054)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:14695540, ECO:0000269|PubMed:17657824" FT /id="VAR_018040" FT VARIANT 2592 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023910" FT VARIANT 2605 FT /note="C -> Y (in MFS)" FT /evidence="ECO:0000269|PubMed:16220557" FT /id="VAR_023912" FT VARIANT 2606 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066009" FT VARIANT 2610 FT /note="E -> K (in MFS; dbSNP:rs111984349)" FT /evidence="ECO:0000269|PubMed:16222657, FT ECO:0000269|PubMed:17657824, ECO:0000269|PubMed:21542060" FT /id="VAR_023913" FT VARIANT 2618 FT /note="G -> R (in MFS; uncertain significance; FT dbSNP:rs141133182)" FT /evidence="ECO:0000269|PubMed:11700157, FT ECO:0000269|PubMed:17657824" FT /id="VAR_018041" FT VARIANT 2623 FT /note="H -> P (in MFS)" FT /evidence="ECO:0000269|PubMed:14695540" FT /id="VAR_002345" FT VARIANT 2624 FT /note="N -> K (in MFS)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018042" FT VARIANT 2627 FT /note="G -> R (in MFS; dbSNP:rs193922239)" FT /evidence="ECO:0000269|PubMed:7977366" FT /id="VAR_002346" FT VARIANT 2629 FT /note="Y -> C (in MFS)" FT /evidence="ECO:0000269|PubMed:16222657" FT /id="VAR_023914" FT VARIANT 2646 FT /note="C -> R (in MFS; dbSNP:rs1555393863)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066010" FT VARIANT 2652 FT /note="C -> G (in MFS)" FT /evidence="ECO:0000269|PubMed:11826022" FT /id="VAR_018043" FT VARIANT 2663 FT /note="C -> S (in MFS)" FT /evidence="ECO:0000269|PubMed:15221638" FT /id="VAR_023915" FT VARIANT 2668 FT /note="G -> C (in MFS; dbSNP:rs1057521100)" FT /evidence="ECO:0000269|PubMed:11700157" FT /id="VAR_018044" FT VARIANT 2680 FT /note="R -> C (in MFS; dbSNP:rs794728283)" FT /evidence="ECO:0000269|PubMed:9401003" FT /id="VAR_002347" FT VARIANT 2694..2871 FT /note="Missing (in MFS)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076158" FT VARIANT 2708 FT /note="N -> S (in MFS; dbSNP:rs759494825)" FT /evidence="ECO:0000269|PubMed:19533785" FT /id="VAR_076159" FT VARIANT 2726 FT /note="R -> W (found in a patient with Marfan-like FT syndrome; likely pathogenic; defects in protein processing; FT dbSNP:rs61746008)" FT /evidence="ECO:0000269|PubMed:17657824, FT ECO:0000269|PubMed:18435798, ECO:0000269|PubMed:7738200, FT ECO:0000269|PubMed:9817919" FT /id="VAR_002348" FT VARIANT 2741 FT /note="I -> T (in MFLS; dbSNP:rs1409931715)" FT /evidence="ECO:0000269|PubMed:24665001" FT /id="VAR_076160" FT VARIANT 2774..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:18435798" FT /id="VAR_076161" FT VARIANT 2776..2781 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic; prevents secretion into the FT extracellular matrix)" FT /evidence="ECO:0000269|PubMed:24982166, FT ECO:0000269|PubMed:7911051" FT /id="VAR_076162" FT VARIANT 2780 FT /note="L -> P (found in a patient with Marfan-like FT syndrome; likely pathogenic; prevents secretion into the FT extracellular matrix; dbSNP:rs869025417)" FT /evidence="ECO:0000269|PubMed:12161601, FT ECO:0000269|PubMed:24982166" FT /id="VAR_076163" FT VARIANT 2793 FT /note="Y -> H (found in a patient with Marfan-like FT syndrome; likely pathogenic; dbSNP:rs113722038)" FT /evidence="ECO:0000269|PubMed:21542060" FT /id="VAR_066011" FT VARIANT 2840..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic)" FT /evidence="ECO:0000269|PubMed:17657824" FT /id="VAR_076164" FT VARIANT 2849..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic; prevents secretion into the FT extracellular matrix)" FT /evidence="ECO:0000269|PubMed:21034599, FT ECO:0000269|PubMed:24982166" FT /id="VAR_076165" FT VARIANT 2867..2871 FT /note="Missing (found in a patient with Marfan-like FT syndrome; likely pathogenic; prevents secretion into the FT extracellular matrix)" FT /evidence="ECO:0000269|PubMed:19293843, FT ECO:0000269|PubMed:24982166" FT /id="VAR_076166" FT MUTAGEN 1542 FT /note="G->D: Loss of integrin-mediated cell adhesion." FT /evidence="ECO:0000269|PubMed:12807887" FT MUTAGEN 2728 FT /note="R->A: Abolishes furin cleavage site, leading to FT defects in protein processing at the C-terminus." FT /evidence="ECO:0000269|PubMed:9817919" FT MUTAGEN 2731 FT /note="R->K: Abolishes furin cleavage site, leading to FT defects in protein processing at the C-terminus." FT /evidence="ECO:0000269|PubMed:9817919" FT MUTAGEN 2732 FT /note="S->T: Defects in protein processing at the FT C-terminus." FT /evidence="ECO:0000269|PubMed:9817919" FT CONFLICT 207 FT /note="T -> Q (in Ref. 1; AAB02036)" FT /evidence="ECO:0000305" FT CONFLICT 2158 FT /note="I -> T (in Ref. 1; AAB02036 and 7; CAA45118)" FT /evidence="ECO:0000305" FT STRAND 50..52 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 54..56 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 58..60 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 92..96 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 99..101 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 107..110 FT /evidence="ECO:0007829|PDB:2M74" FT TURN 118..120 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 128..130 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 133..135 FT /evidence="ECO:0007829|PDB:5MS9" FT TURN 142..145 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 155..157 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 159..162 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 165..167 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 170..172 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 174..176 FT /evidence="ECO:0007829|PDB:2M74" FT STRAND 184..187 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 191..193 FT /evidence="ECO:0007829|PDB:5MS9" FT HELIX 206..211 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 215..217 FT /evidence="ECO:0007829|PDB:5MS9" FT TURN 218..221 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 229..231 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 235..237 FT /evidence="ECO:0007829|PDB:5MS9" FT TURN 239..241 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 244..246 FT /evidence="ECO:0007829|PDB:5MS9" FT HELIX 249..252 FT /evidence="ECO:0007829|PDB:5MS9" FT TURN 253..255 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 258..265 FT /evidence="ECO:0007829|PDB:5MS9" FT STRAND 268..272 FT /evidence="ECO:0007829|PDB:5MS9" FT TURN 281..284 FT /evidence="ECO:0007829|PDB:5MS9" FT HELIX 810..813 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 819..824 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 827..831 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 836..838 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 842..847 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 851..858 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 861..870 FT /evidence="ECO:0007829|PDB:2W86" FT HELIX 872..876 FT /evidence="ECO:0007829|PDB:2W86" FT TURN 877..879 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 881..883 FT /evidence="ECO:0007829|PDB:2W86" FT TURN 884..887 FT /evidence="ECO:0007829|PDB:2W86" FT TURN 894..896 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 900..904 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 907..910 FT /evidence="ECO:0007829|PDB:2W86" FT HELIX 913..916 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 921..929 FT /evidence="ECO:0007829|PDB:2W86" FT STRAND 932..936 FT /evidence="ECO:0007829|PDB:2W86" FT TURN 1073..1076 FT /evidence="ECO:0007829|PDB:1LMJ" FT TURN 1080..1083 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1086..1089 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1092..1095 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1099..1103 FT /evidence="ECO:0007829|PDB:1LMJ" FT TURN 1105..1107 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1108..1113 FT /evidence="ECO:0007829|PDB:1LMJ" FT HELIX 1116..1119 FT /evidence="ECO:0007829|PDB:1LMJ" FT TURN 1123..1126 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1127..1132 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1135..1140 FT /evidence="ECO:0007829|PDB:1LMJ" FT STRAND 1148..1150 FT /evidence="ECO:0007829|PDB:1LMJ" FT HELIX 1490..1492 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1496..1498 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1500..1505 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1508..1512 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1523..1527 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1532..1537 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1544..1546 FT /evidence="ECO:0007829|PDB:1UZJ" FT STRAND 1550..1557 FT /evidence="ECO:0007829|PDB:1UZK" FT HELIX 1559..1563 FT /evidence="ECO:0007829|PDB:1UZK" FT TURN 1564..1566 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1568..1570 FT /evidence="ECO:0007829|PDB:1UZP" FT TURN 1571..1574 FT /evidence="ECO:0007829|PDB:1UZK" FT HELIX 1583..1588 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1595..1597 FT /evidence="ECO:0007829|PDB:1UZK" FT TURN 1599..1601 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1604..1606 FT /evidence="ECO:0007829|PDB:1UZK" FT HELIX 1609..1612 FT /evidence="ECO:0007829|PDB:1UZK" FT HELIX 1614..1617 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1620..1624 FT /evidence="ECO:0007829|PDB:1UZK" FT STRAND 1629..1632 FT /evidence="ECO:0007829|PDB:1UZK" FT TURN 1641..1643 FT /evidence="ECO:0007829|PDB:1UZK" FT HELIX 2054..2056 FT /evidence="ECO:0007829|PDB:1APJ" FT STRAND 2061..2065 FT /evidence="ECO:0007829|PDB:1APJ" FT STRAND 2070..2073 FT /evidence="ECO:0007829|PDB:1APJ" FT HELIX 2080..2084 FT /evidence="ECO:0007829|PDB:1APJ" FT STRAND 2090..2092 FT /evidence="ECO:0007829|PDB:1APJ" FT TURN 2093..2096 FT /evidence="ECO:0007829|PDB:1APJ" FT HELIX 2105..2110 FT /evidence="ECO:0007829|PDB:1APJ" FT STRAND 2130..2133 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2138..2142 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2157..2160 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2163..2166 FT /evidence="ECO:0007829|PDB:1EMN" FT HELIX 2169..2171 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2177..2179 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2181..2183 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2185..2190 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2193..2196 FT /evidence="ECO:0007829|PDB:1EMN" FT STRAND 2200..2202 FT /evidence="ECO:0007829|PDB:1EMN" SQ SEQUENCE 2871 AA; 312298 MW; 501258AF1756B9F7 CRC64; MRRGRLLEIA LGFTVLLASY TSHGADANLE AGNVKETRAS RAKRRGGGGH DALKGPNVCG SRYNAYCCPG WKTLPGGNQC IVPICRHSCG DGFCSRPNMC TCPSGQIAPS CGSRSIQHCN IRCMNGGSCS DDHCLCQKGY IGTHCGQPVC ESGCLNGGRC VAPNRCACTY GFTGPQCERD YRTGPCFTVI SNQMCQGQLS GIVCTKTLCC ATVGRAWGHP CEMCPAQPHP CRRGFIPNIR TGACQDVDEC QAIPGLCQGG NCINTVGSFE CKCPAGHKLN EVSQKCEDID ECSTIPGICE GGECTNTVSS YFCKCPPGFY TSPDGTRCID VRPGYCYTAL TNGRCSNQLP QSITKMQCCC DAGRCWSPGV TVAPEMCPIR ATEDFNKLCS VPMVIPGRPE YPPPPLGPIP PVLPVPPGFP PGPQIPVPRP PVEYLYPSRE PPRVLPVNVT DYCQLVRYLC QNGRCIPTPG SYRCECNKGF QLDLRGECID VDECEKNPCA GGECINNQGS YTCQCRAGYQ STLTRTECRD IDECLQNGRI CNNGRCINTD GSFHCVCNAG FHVTRDGKNC EDMDECSIRN MCLNGMCINE DGSFKCICKP GFQLASDGRY CKDINECETP GICMNGRCVN TDGSYRCECF PGLAVGLDGR VCVDTHMRST CYGGYKRGQC IKPLFGAVTK SECCCASTEY AFGEPCQPCP AQNSAEYQAL CSSGPGMTSA GSDINECALD PDICPNGICE NLRGTYKCIC NSGYEVDSTG KNCVDINECV LNSLLCDNGQ CRNTPGSFVC TCPKGFIYKP DLKTCEDIDE CESSPCINGV CKNSPGSFIC ECSSESTLDP TKTICIETIK GTCWQTVIDG RCEININGAT LKSQCCSSLG AAWGSPCTLC QVDPICGKGY SRIKGTQCED IDECEVFPGV CKNGLCVNTR GSFKCQCPSG MTLDATGRIC LDIRLETCFL RYEDEECTLP IAGRHRMDAC CCSVGAAWGT EECEECPMRN TPEYEELCPR GPGFATKEIT NGKPFFKDIN ECKMIPSLCT HGKCRNTIGS FKCRCDSGFA LDSEERNCTD IDECRISPDL CGRGQCVNTP GDFECKCDEG YESGFMMMKN CMDIDECQRD PLLCRGGVCH NTEGSYRCEC PPGHQLSPNI SACIDINECE LSAHLCPNGR CVNLIGKYQC ACNPGYHSTP DRLFCVDIDE CSIMNGGCET FCTNSEGSYE CSCQPGFALM PDQRSCTDID ECEDNPNICD GGQCTNIPGE YRCLCYDGFM ASEDMKTCVD VNECDLNPNI CLSGTCENTK GSFICHCDMG YSGKKGKTGC TDINECEIGA HNCGKHAVCT NTAGSFKCSC SPGWIGDGIK CTDLDECSNG THMCSQHADC KNTMGSYRCL CKEGYTGDGF TCTDLDECSE NLNLCGNGQC LNAPGGYRCE CDMGFVPSAD GKACEDIDEC SLPNICVFGT CHNLPGLFRC ECEIGYELDR SGGNCTDVNE CLDPTTCISG NCVNTPGSYI CDCPPDFELN PTRVGCVDTR SGNCYLDIRP RGDNGDTACS NEIGVGVSKA SCCCSLGKAW GTPCEMCPAV NTSEYKILCP GGEGFRPNPI TVILEDIDEC QELPGLCQGG KCINTFGSFQ CRCPTGYYLN EDTRVCDDVN ECETPGICGP GTCYNTVGNY TCICPPDYMQ VNGGNNCMDM RRSLCYRNYY ADNQTCDGEL LFNMTKKMCC CSYNIGRAWN KPCEQCPIPS TDEFATLCGS QRPGFVIDIY TGLPVDIDEC REIPGVCENG VCINMVGSFR CECPVGFFYN DKLLVCEDID ECQNGPVCQR NAECINTAGS YRCDCKPGYR FTSTGQCNDR NECQEIPNIC SHGQCIDTVG SFYCLCHTGF KTNDDQTMCL DINECERDAC GNGTCRNTIG SFNCRCNHGF ILSHNNDCID VDECASGNGN LCRNGQCINT VGSFQCQCNE GYEVAPDGRT CVDINECLLE PRKCAPGTCQ NLDGSYRCIC PPGYSLQNEK CEDIDECVEE PEICALGTCS NTEGSFKCLC PEGFSLSSSG RRCQDLRMSY CYAKFEGGKC SSPKSRNHSK QECCCALKGE GWGDPCELCP TEPDEAFRQI CPYGSGIIVG PDDSAVDMDE CKEPDVCKHG QCINTDGSYR CECPFGYILA GNECVDTDEC SVGNPCGNGT CKNVIGGFEC TCEEGFEPGP MMTCEDINEC AQNPLLCAFR CVNTYGSYEC KCPVGYVLRE DRRMCKDEDE CEEGKHDCTE KQMECKNLIG TYMCICGPGY QRRPDGEGCV DENECQTKPG ICENGRCLNT RGSYTCECND GFTASPNQDE CLDNREGYCF TEVLQNMCQI GSSNRNPVTK SECCCDGGRG WGPHCEICPF QGTVAFKKLC PHGRGFMTNG ADIDECKVIH DVCRNGECVN DRGSYHCICK TGYTPDITGT SCVDLNECNQ APKPCNFICK NTEGSYQCSC PKGYILQEDG RSCKDLDECA TKQHNCQFLC VNTIGGFTCK CPPGFTQHHT SCIDNNECTS DINLCGSKGI CQNTPGSFTC ECQRGFSLDQ TGSSCEDVDE CEGNHRCQHG CQNIIGGYRC SCPQGYLQHY QWNQCVDENE CLSAHICGGA SCHNTLGSYK CMCPAGFQYE QFSGGCQDIN ECGSAQAPCS YGCSNTEGGY LCGCPPGYFR IGQGHCVSGM GMGRGNPEPP VSGEMDDNSL SPEACYECKI NGYPKRGRKR RSTNETDASN IEDQSETEAN VSLASWDVEK TAIFAFNISH VSNKVRILEL LPALTTLTNH NRYLIESGNE DGFFKINQKE GISYLHFTKK KPVAGTYSLQ ISSTPLYKKK ELNQLEDKYD KDYLSGELGD NLKMKIQVLL H //