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2024-04-19 09:10:30, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_000138 11695 bp mRNA linear PRI 16-JUN-2013
DEFINITION Homo sapiens fibrillin 1 (FBN1), mRNA.
ACCESSION NM_000138
VERSION NM_000138.4 GI:281485549
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 11695)
AUTHORS Lee,T., Takeshima,Y., Okizuka,Y., Hamahira,K., Kusunoki,N.,
Awano,H., Yagi,M., Sakai,N., Matsuo,M. and Iijima,K.
TITLE A Japanese child with geleophysic dysplasia caused by a novel
mutation of FBN1
JOURNAL Gene 512 (2), 456-459 (2013)
PUBMED 23124041
REMARK GeneRIF: the mutation in the current patient was located in the TB5
domain, which suggests that abnormalities in this domain of FBN1
are responsible for GD.
REFERENCE 2 (bases 1 to 11695)
AUTHORS Hayes,A.J., Smith,S.M. and Melrose,J.
TITLE Comparative immunolocalisation of fibrillin-1 and perlecan in the
human foetal, and HS-deficient hspg2 exon 3 null mutant mouse
intervertebral disc
JOURNAL Histochem. Cell Biol. 139 (1), 1-11 (2013)
PUBMED 23104139
REMARK GeneRIF: Report immunolocalization of fibrillin-1/perlecan in human
fetal intervertebral disc.
REFERENCE 3 (bases 1 to 11695)
AUTHORS Cain,S.A., McGovern,A., Baldwin,A.K., Baldock,C. and Kielty,C.M.
TITLE Fibrillin-1 mutations causing Weill-Marchesani syndrome and
acromicric and geleophysic dysplasias disrupt heparan sulfate
interactions
JOURNAL PLoS ONE 7 (11), E48634 (2012)
PUBMED 23133647
REMARK GeneRIF: Fibrillin mutations causing Weill-Marchesani syndrome and
acromicric and geleophysic dysplasias disrupt heparan sulfate
interactions
REFERENCE 4 (bases 1 to 11695)
AUTHORS Kaur,J. and Reinhardt,D.P.
TITLE Immobilized metal affinity chromatography co-purifies TGF-beta1
with histidine-tagged recombinant extracellular proteins
JOURNAL PLoS ONE 7 (10), E48629 (2012)
PUBMED 23119075
REMARK GeneRIF: Data indicate that TGF-beta1 was co-purified by specific
interactions with nickel, and not by specific interactions with
fibrillin-1 fragments.
REFERENCE 5 (bases 1 to 11695)
AUTHORS Micheal,S., Khan,M.I., Akhtar,F., Weiss,M.M., Islam,F., Ali,M.,
Qamar,R., Maugeri,A. and den Hollander,A.I.
TITLE Identification of a novel FBN1 gene mutation in a large Pakistani
family with Marfan syndrome
JOURNAL Mol. Vis. 18, 1918-1926 (2012)
PUBMED 22876116
REMARK GeneRIF: A novel heterozygous missense mutation in FBN1 gene
(c.2368T>A; p.Cys790Ser) was observed in exon 19. All affected
family members presented with ectopia lentis, myopia and glaucoma,
but lacked the cardinal cardiovascular features of Marfan syndrome.
REFERENCE 6 (bases 1 to 11695)
AUTHORS Dietz,H.C., Pyeritz,R.E., Puffenberger,E.G., Kendzior,R.J. Jr.,
Corson,G.M., Maslen,C.L., Sakai,L.Y., Francomano,C.A. and
Cutting,G.R.
TITLE Marfan phenotype variability in a family segregating a missense
mutation in the epidermal growth factor-like motif of the fibrillin
gene
JOURNAL J. Clin. Invest. 89 (5), 1674-1680 (1992)
PUBMED 1569206
REFERENCE 7 (bases 1 to 11695)
AUTHORS Dietz,H.C., Saraiva,J.M., Pyeritz,R.E., Cutting,G.R. and
Francomano,C.A.
TITLE Clustering of fibrillin (FBN1) missense mutations in Marfan
syndrome patients at cysteine residues in EGF-like domains
JOURNAL Hum. Mutat. 1 (5), 366-374 (1992)
PUBMED 1301946
REFERENCE 8 (bases 1 to 11695)
AUTHORS Magenis,R.E., Maslen,C.L., Smith,L., Allen,L. and Sakai,L.Y.
TITLE Localization of the fibrillin (FBN) gene to chromosome 15, band
q21.1
JOURNAL Genomics 11 (2), 346-351 (1991)
PUBMED 1769651
REFERENCE 9 (bases 1 to 11695)
AUTHORS Maslen,C.L., Corson,G.M., Maddox,B.K., Glanville,R.W. and
Sakai,L.Y.
TITLE Partial sequence of a candidate gene for the Marfan syndrome
JOURNAL Nature 352 (6333), 334-337 (1991)
PUBMED 1852207
REFERENCE 10 (bases 1 to 11695)
AUTHORS Lee,B., Godfrey,M., Vitale,E., Hori,H., Mattei,M.G., Sarfarazi,M.,
Tsipouras,P., Ramirez,F. and Hollister,D.W.
TITLE Linkage of Marfan syndrome and a phenotypically related disorder to
two different fibrillin genes
JOURNAL Nature 352 (6333), 330-334 (1991)
PUBMED 1852206
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AC084757.2, BC146854.1 and
AC084758.3.
This sequence is a reference standard in the RefSeqGene project.
On Dec 23, 2009 this sequence version replaced gi:93589095.
Summary: This gene encodes a member of the fibrillin family. The
encoded protein is a large, extracellular matrix glycoprotein that
serve as a structural component of 10-12 nm calcium-binding
microfibrils. These microfibrils provide force bearing structural
support in elastic and nonelastic connective tissue throughout the
body. Mutations in this gene are associated with Marfan syndrome,
isolated ectopia lentis, autosomal dominant Weill-Marchesani
syndrome, MASS syndrome, and Shprintzen-Goldberg craniosynostosis
syndrome. [provided by RefSeq, Jul 2008].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: X63556.1, BC146854.1 [ECO:0000332]
RNAseq introns :: mixed/partial sample support
ERS025081, ERS025082 [ECO:0000350]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-134 AC084757.2 45417-45550 c
135-9324 BC146854.1 1-9190
9325-11695 AC084758.3 137802-140172 c
FEATURES Location/Qualifiers
source 1..11695
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="15"
/map="15q21.1"
gene 1..11695
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="fibrillin 1"
/db_xref="GeneID:2200"
/db_xref="HGNC:3603"
/db_xref="MIM:134797"
exon 1..214
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 215..559
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
CDS 396..9011
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="fibrillin 15"
/codon_start=1
/product="fibrillin-1 precursor"
/protein_id="NP_000129.3"
/db_xref="GI:281485550"
/db_xref="CCDS:CCDS32232.1"
/db_xref="GeneID:2200"
/db_xref="HGNC:3603"
/db_xref="MIM:134797"
/translation="
MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCNIRCMNGGSCSDDHCLCQKGYIGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERDYRTGPCFTVISNQMCQGQLSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNIRTGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLNEVSQKCEDIDECSTIPGICEGGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLPQSITKMQCCCDAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFPPGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSYRCECNKGFQLDLRGECIDVDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRICNNGRCINTDGSFHCVCNAGFHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKPGFQLASDGRYCKDINECETPGICMNGRCVNTDGSYRCECFPGLAVGLDGRVCVDTHMRSTCYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCPAQNSAEYQALCSSGPGMTSAGSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECVLNSLLCDNGQCRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDPTKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGYSRIKGTQCEDIDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFLRYEDEECTLPIAGRHRMDACCCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEITNGKPFFKDINECKMIPSLCTHGKCRNTIGSFKCRCDSGFALDSEERNCTDIDECRISPDLCGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRDPLLCRGGVCHNTEGSYRCECPPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTPDRLFCVDIDECSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGEYRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGCTDINECEIGAHNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADCKNTMGSYRCLCKEGYTGDGFTCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSADGKACEDIDECSLPNICVFGTCHNLPGLFRCECEIGYELDRSGGNCTDVNECLDPTTCISGNCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRPRGDNGDTACSNEIGVGVSKASCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDECQELPGLCQGGKCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQVNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPSTDEFATLCGSQRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYNDKLLVCEDIDECQNGPVCQRNAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNICSHGQCIDTVGSFYCLCHTGFKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGFILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNEGYEVAPDGRTCVDINECLLEPRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCSNTEGSFKCLCPEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCPTEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILAGNECVDTDECSVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFRCVNTYGSYECKCPVGYVLREDRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGYQRRPDGEGCVDENECQTKPGICENGRCLNTRGSYTCECNDGFTASPNQDECLDNREGYCFTEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPFQGTVAFKKLCPHGRGFMTNGADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQAPKPCNFICKNTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHTSCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHGCQNIIGGYRCSCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYEQFSGGCQDINECGSAQAPCSYGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPPVSGEMDDNSLSPEACYECKINGYPKRGRKRRSTNETDASNIEDQSETEANVSLASWDVEKTAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNEDGFFKINQKEGISYLHFTKKKPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLLH
"
sig_peptide 396..476
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="COORDINATES: ab initio prediction:SignalP:4.0"
mat_peptide 477..9008
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/product="fibrillin-1"
misc_feature 972..1100
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 1131..>1226
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 1257..1382
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 1422..1559
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 1863..1958
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 1983..2108
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(1983..1985,1992..1994,2037..2039)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 2109..2231
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 2232..>2321
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(2232..2234,2241..2243,2283..2285)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 2397..2525
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 2562..2684
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF domain; Region: EGF_CA;
pfam07645"
/db_xref="CDD:148962"
misc_feature 2688..2792
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(2688..2690,2697..2699,2742..2744)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 2973..3095
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 3123..3221
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 3291..3416
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 3543..3614
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Complement Clr-like EGF-like; Region: cEGF;
pfam12662"
/db_xref="CDD:205000"
misc_feature 3603..3707
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 3732..3833
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(3732..3734,3741..3743,3786..3788)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 3858..3959
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature <3975..4100
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Von Willebrand factor type A (vWA) domain was
originally found in the blood coagulation protein von
Willebrand factor (vWF). Typically, the vWA domain is made
up of approximately 200 amino acid residues folded into a
classic a/b para-rossmann type of...; Region: vWFA;
cl00057"
/db_xref="CDD:206808"
misc_feature 4107..4229
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 4359..4466
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(4359..4361,4368..4370,4416..4418)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 4482..4589
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(4482..4484,4491..4493,4539..4541)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 4671..4742
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Complement Clr-like EGF-like; Region: cEGF;
pfam12662"
/db_xref="CDD:205000"
misc_feature 4731..4853
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 4854..4949
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 5034..5159
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 5211..5312
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(5211..5213,5220..5222,5265..5267)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 5337..5456
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 5505..5636
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 5691..5813
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 5817..5915
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(5817..5819,5826..5828,5871..5873)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 5940..>6035
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 6066..6170
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 6183..6308
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF domain; Region: EGF_CA;
pfam07645"
/db_xref="CDD:148962"
misc_feature 6312..6419
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(6312..6314,6321..6323,6366..6368)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 6432..6554
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 6597..6725
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 6774..6872
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(6774..6776,6783..6785,6825..6827)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 7011..7130
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 7134..7262
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature <7260..7379
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Von Willebrand factor type A (vWA) domain was
originally found in the blood coagulation protein von
Willebrand factor (vWF). Typically, the vWA domain is made
up of approximately 200 amino acid residues folded into a
classic a/b para-rossmann type of...; Region: vWFA;
cl00057"
/db_xref="CDD:206808"
misc_feature 7431..7562
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="TB domain; Region: TB; pfam00683"
/db_xref="CDD:201391"
misc_feature 7599..7724
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 7788..7859
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Complement Clr-like EGF-like; Region: cEGF;
pfam12662"
/db_xref="CDD:205000"
misc_feature 7848..>7940
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cl09941"
/db_xref="CDD:209104"
misc_feature 7965..8093
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain; Region: EGF_CA;
smart00179"
/db_xref="CDD:197557"
misc_feature 8094..8183
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(8094..8096,8103..8105,8142..8144)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
misc_feature 8214..8309
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Calcium-binding EGF-like domain, present in a large
number of membrane-bound and extracellular (mostly animal)
proteins. Many of these proteins require calcium for their
biological function and calcium-binding sites have been
found to be located at the...; Region: EGF_CA; cd00054"
/db_xref="CDD:28936"
misc_feature order(8214..8216,8223..8225,8265..8267)
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/note="Ca2+ binding site [ion binding]; other site"
/db_xref="CDD:28936"
variation 474
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:25397"
variation 540
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111935434"
variation 551
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:25398"
exon 560..642
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 579
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:25403"
variation 633
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111764111"
exon 643..741
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 658
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:111399779"
variation 673
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:112271157"
variation 701
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:25388"
exon 742..837
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 751
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111604463"
variation 794
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:363850"
exon 838..933
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 888
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:113905529"
variation 891
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363852"
variation 924
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363853"
variation 925
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:113695103"
exon 934..1131
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
STS 967..1105
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="GDB:455155"
/db_xref="UniSTS:157454"
variation 980
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803584"
variation 995
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:25389"
variation 1035
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113111224"
variation 1038
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111687884"
variation 1051
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace=""
/replace="a"
/db_xref="dbSNP:25390"
variation 1131
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112933633"
exon 1132..1257
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 1178
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113721547"
exon 1258..1383
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 1384..1542
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 1482
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:363855"
exon 1543..1722
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 1673
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:113245313"
variation 1680
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112645512"
exon 1723..1863
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 1766
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:25436"
variation 1810..1811
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113936729"
exon 1864..1983
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 1941
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113812345"
exon 1984..2109
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 2016
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111396594"
variation 2032
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112644647"
variation 2035
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112269822"
variation 2088
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113422242"
variation 2103
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113902534"
exon 2110..2232
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 2233..2355
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 2242
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:25457"
variation 2270
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:25458"
exon 2356..2508
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 2490
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113170452"
exon 2509..2562
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 2563..2688
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 2565
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113512280"
variation 2570
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140606"
exon 2689..2814
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 2815..2934
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 2935..3072
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 2954
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:111981744"
variation 2976
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140583"
variation 3023
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112085967"
exon 3073..3123
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 3124..3249
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 3205
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:113602180"
exon 3250..3477
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 3256
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112911555"
STS 3274..3479
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="GDB:190047"
/db_xref="UniSTS:155615"
variation 3290
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140591"
variation 3381
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140592"
variation 3430
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:113990281"
variation 3453
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111801777"
exon 3478..3603
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 3537
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2229324"
variation 3588..3591
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace=""
/replace="gaaa"
/db_xref="dbSNP:140595"
exon 3604..3732
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 3624
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140586"
variation 3645
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112553035"
variation 3689
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140587"
variation 3694
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112547596"
exon 3733..3858
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 3733
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140597"
variation 3817
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2228241"
variation 3853
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140599"
exon 3859..3984
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 3985..4107
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 3985
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112025387"
exon 4108..4233
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4162
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace=""
/replace="a"
/db_xref="dbSNP:140596"
variation 4193
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:112987543"
exon 4234..4359
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4234..4241
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace=""
/replace="atgtcaat"
/db_xref="dbSNP:113603747"
variation 4240
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140647"
variation 4354
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:113393517"
variation 4358
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140648"
exon 4360..4482
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4417
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140638"
exon 4483..4605
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4517
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:113034291"
exon 4606..4731
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4688
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112375043"
exon 4732..4854
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4849
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:111978932"
variation 4854
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113693945"
exon 4855..4977
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4932
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:112723282"
exon 4978..5142
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 4996
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112559031"
variation 5010
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111231312"
exon 5143..5211
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 5212..5337
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 5270
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:140628"
variation 5285
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111321375"
variation 5321
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140629"
variation 5325
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:140630"
exon 5338..5460
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 5394
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140626"
variation 5409
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:112930491"
variation 5410
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:140627"
exon 5461..5619
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 5480
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:113394552"
exon 5620..5691
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 5692..5817
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 5738
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:140649"
variation 5763
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113249837"
exon 5818..5940
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 5899
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111929350"
exon 5941..6066
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 5983
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113086760"
variation 6022
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112728248"
exon 6067..6183
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6109
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:112655848"
exon 6184..6312
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6221
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:363806"
variation 6258
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363807"
variation 6307
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:111239111"
exon 6313..6432
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6359
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113022801"
exon 6433..6558
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6447
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:363802"
variation 6463
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363803"
variation 6508
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:363804"
variation 6553
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:363805"
exon 6559..6708
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 6709..6774
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6726
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363815"
variation 6733
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:363816"
variation 6749
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112989722"
exon 6775..6891
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6841
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113080385"
variation 6847
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112464743"
exon 6892..7011
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 6904
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:363821"
exon 7012..7134
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7053
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113001196"
variation 7056
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113543334"
variation 7076
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:363824"
variation 7100
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2229326"
exon 7135..7266
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7146
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112836174"
variation 7250
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363836"
exon 7267..7392
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7283..7284
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:56222054"
variation 7283
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:363830"
variation 7347
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111588631"
variation 7382
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:363831"
exon 7393..7599
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7493
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1005074"
variation 7510
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:112369155"
variation 7528
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111798283"
exon 7600..7725
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7635
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112550005"
exon 7726..7848
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
exon 7849..7965
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7893
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:363810"
variation 7916
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111895751"
variation 7935
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:363811"
exon 7966..8094
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 7993
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111231879"
variation 8000
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/db_xref="dbSNP:113544411"
variation 8050
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:113334360"
exon 8095..8214
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 8160
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111413134"
variation 8170
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112118237"
variation 8205
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:111496285"
exon 8215..8446
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
STS 8217..8350
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="GDB:455176"
/db_xref="UniSTS:157455"
variation 8223
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:111984349"
variation 8266
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:113935744"
variation 8283
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:113812013"
variation 8287
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:111856492"
variation 8301
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112566465"
variation 8358..8370
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace=""
/replace="gcgcaggccccct"
/db_xref="dbSNP:363843"
variation 8377
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112196241"
exon 8447..8621
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 8543
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:112642323"
variation 8597
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113904256"
exon 8622..11695
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/inference="alignment:Splign:1.39.8"
variation 8705
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:112189340"
STS 8722..8982
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="GDB:190048"
/db_xref="UniSTS:155616"
STS 8758..8887
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="WI-18561"
/db_xref="UniSTS:21704"
variation 8759
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:112945086"
variation 8772
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:113722038"
variation 8839
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="t"
/db_xref="dbSNP:113170280"
variation 9001
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:363848"
STS 9013..9901
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="GDB:636540"
/db_xref="UniSTS:158547"
variation 9068
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="g"
/db_xref="dbSNP:363849"
STS 9160..9876
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="GDB:438900"
/db_xref="UniSTS:157282"
variation 9325
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1042078"
variation 9741
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="g"
/replace="t"
/db_xref="dbSNP:13598"
STS 9757..9887
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="D15S1255"
/db_xref="UniSTS:69980"
polyA_signal 9898..9903
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
STS 9924..10107
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="SHGC-56864"
/db_xref="UniSTS:64313"
polyA_site 9928
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
polyA_signal 9987..9992
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
polyA_site 10011
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
STS 11179..11396
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/standard_name="RH45122"
/db_xref="UniSTS:69468"
variation 11218
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1046015"
polyA_signal 11668..11673
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
polyA_site 11695
/gene="FBN1"
/gene_synonym="ACMICD; ECTOL1; FBN; GPHYSD2; MASS; MFS1;
OCTD; SGS; SSKS; WMS; WMS2"
ORIGIN
agtatttctctcgcgagaaaccgctgcgcggacgatacttgaagaggtggggaaaggagggggctgcgggagccgcggcagagactgtgggtgccacaagcggacaggagccacagctgggacagctgcgagcggagccgagcagtggctgtagcggccacgactgggagcagccgccgccgcctcctcgggagtcggagccgccgcttctccactggcaggggccgcctgaagtgggagcagcgcctggagaaggcgggaggagcccggcccgggggacgggcggcgggatagcgggaccccggcggcgcggtgcgcttcagggcgcagcggcggccgcagaccgagccccgggcgcggcaagaggcggcgggagccggtggcggctcggcatcatgcgtcgagggcgtctgctggagatcgccctgggatttaccgtgcttttagcgtcctacacgagccatggggcggacgccaatttggaggctgggaacgtgaaggaaaccagagccagtcgggccaagagaagaggcggtggaggacacgacgcgcttaaaggacccaatgtctgtggatcacgttataatgcttactgttgccctggatggaaaaccttacctggcggaaatcagtgtattgtccccatttgccggcattcctgtggggatggattttgttcgaggccaaatatgtgcacttgcccatctggtcagatagctccttcctgtggctccagatccatacaacactgcaatattcgctgtatgaatggaggtagctgcagtgacgatcactgtctatgccagaaaggatacatagggactcactgtggacaacctgtttgtgaaagtggctgtctcaatggaggaaggtgtgtggccccaaatcgatgtgcatgcacttacggatttactggaccccagtgtgaaagagattacaggacaggcccatgttttactgtgatcagcaaccagatgtgccagggacaactcagcgggattgtctgcacaaaaacgctctgctgtgccacagtcggccgagcctggggccacccctgtgagatgtgtcctgcccagcctcacccctgccgccgtggcttcattccaaatatccgcacgggagcttgtcaagatgtggatgaatgccaggccatccccgggctctgtcagggaggaaattgcattaatactgttgggtcttttgagtgcaaatgccctgctggacacaaacttaatgaagtgtcacaaaaatgtgaagatattgatgaatgcagcaccattcctggaatctgtgaagggggtgaatgtacaaacacagtcagcagttacttttgcaaatgtccccctggtttttacacctctccagatggtaccagatgcatagatgttcgcccaggatactgttacacagctctgacaaacgggcgctgctctaaccagctgccacagtccataaccaaaatgcagtgctgctgtgatgccggccgatgctggtctccaggggtcactgtcgcccctgagatgtgtcccatcagagcaaccgaggatttcaacaagctgtgctctgttcctatggtaattcctgggagaccagaatatcctcccccaccccttggccccattcctccagttctccctgttcctcctggctttcctcctggacctcaaattccggtccctcgaccaccagtggaatatctgtatccatctcgggagccaccaagggtgctgccagtaaacgttactgattactgccagttggtccgctatctctgtcaaaatggacgctgcattccaactcctgggagttaccggtgtgagtgcaacaaagggttccagctggacctccgtggggagtgtattgatgttgatgaatgtgagaaaaacccctgtgctggtggtgagtgtattaacaaccagggttcgtacacctgtcagtgccgagctggatatcagagcacactcacgcggacagaatgccgagacattgatgagtgtttacagaatggccggatctgcaataatggacgctgcatcaacacagatggcagttttcattgcgtgtgtaatgcgggctttcatgttacacgagatgggaagaactgtgaagatatggatgaatgcagcataaggaacatgtgccttaatggaatgtgtatcaatgaagatggcagttttaaatgtatttgcaaacctggattccagctggcatcagatggacgttattgcaaagacattaacgagtgtgaaacccctgggatctgcatgaatgggcgttgcgtcaacactgatggctcctacagatgtgaatgcttccctggactggctgtgggtctggatggccgtgtgtgtgttgacacacacatgcggagcacatgctatggtggatacaagagaggccagtgtatcaaacctttgtttggtgctgtcactaaatctgaatgctgttgcgccagcactgagtatgcatttggggaaccttgccagccgtgtcctgcacagaattcagcggaatatcaggcactctgcagcagtgggccaggaatgacgtcagcaggcagtgatataaatgaatgtgcactagatcctgatatttgcccaaatggaatctgtgaaaaccttcgtgggacctataaatgtatatgcaattcaggatatgaagtggattcaactgggaaaaactgcgttgatattaatgaatgtgtactgaacagtctcctttgtgacaatggacaatgtagaaatactcctggaagttttgtctgtacctgccccaagggatttatctacaaacctgatctaaaaacatgtgaagacattgatgaatgcgaatcaagtccttgcattaatggagtctgcaagaacagcccaggctcttttatttgtgaatgttcttctgaaagtactttggatccaacaaaaaccatctgcatagaaaccatcaagggcacttgctggcagactgtcattgatgggcgatgtgagatcaacatcaatggagccaccttaaagtcccagtgctgctcctccctcggtgctgcgtggggaagcccgtgcaccctatgccaagttgatcccatatgtggtaaagggtactcaagaattaaaggaacacaatgtgaagatatagatgaatgtgaagtgttcccaggagtgtgtaaaaatggcctgtgtgttaacactagggggtcattcaagtgtcagtgtcccagtggaatgactttggatgccacaggaaggatctgtcttgatatccgcctggaaacctgcttcctgaggtacgaggacgaggagtgcaccctgcctattgctggccgccaccgcatggacgcctgctgctgctccgtcggggcagcctggggtactgaggaatgcgaggagtgtcccatgagaaatactcctgagtacgaggagctgtgtccgagaggacccggatttgccacaaaagaaattacaaatggaaagcctttcttcaaagatatcaatgagtgcaagatgatacccagcctctgcacccacggcaagtgcagaaacaccattggcagctttaagtgcaggtgtgacagcggctttgctcttgattctgaagaaaggaactgcacagacattgacgaatgccgcatatctcctgacctctgtggcagaggccagtgtgtgaacacccctggggactttgaatgcaagtgtgacgaaggctatgaaagtggattcatgatgatgaagaactgcatggatattgatgagtgtcagagagatcctctcctatgccgaggtggtgtttgccataacacagagggaagttaccgctgtgaatgcccgcctggccatcagctgtcccccaacatctccgcgtgtatcgacatcaatgaatgtgagctgagtgcacacctgtgccccaatggccgttgcgtgaacctcatagggaagtatcagtgtgcctgcaaccctggctaccattcaactcccgataggctattttgtgttgacattgatgaatgcagcataatgaatggtggttgtgaaaccttctgcacaaactctgaaggcagctatgaatgtagctgtcagccgggatttgcactaatgcctgaccagagatcatgcaccgacatcgatgagtgtgaagataatcccaatatctgtgatggtggtcagtgcacaaatatccctggagagtacaggtgcttgtgttatgatggattcatggcatctgaagacatgaagacttgtgtagatgtcaatgagtgtgacctgaatccaaatatctgcctaagtgggacctgtgaaaacacgaaaggctcatttatctgccactgtgatatgggctactccggcaaaaaaggaaaaactggctgtacagacatcaatgaatgtgaaattggagcacacaactgtggcaaacatgctgtatgtaccaatacagcaggaagcttcaaatgtagctgcagtcccgggtggattggagatggcattaagtgcactgatctggacgaatgttccaatggaacccatatgtgcagccagcatgcagactgcaagaataccatgggatcttaccgctgtctgtgcaaggaaggatacacaggtgatggcttcacttgtacagaccttgatgagtgctctgagaacctgaatctctgtggcaatggccagtgcctcaatgcaccaggaggataccgctgtgaatgcgacatgggcttcgtgcccagtgctgacgggaaagcctgtgaagatattgatgagtgctcccttccgaacatctgtgtctttggaacttgccacaacctccctggcctgttccgctgtgagtgtgagataggctacgaactggacagaagcggcgggaactgcacagatgtgaatgaatgcctggatccaaccacgtgcatcagtgggaactgtgtcaacactccaggcagctatatctgtgactgcccacctgattttgaactgaacccaactcgagttggctgtgttgatacccgctctggaaattgctatttggatattcgacctcgaggagacaatggagatacagcctgcagcaatgaaattggagttggtgtttccaaagcttcctgctgctgttctctgggtaaagcctggggtactccttgtgagatgtgtcctgctgtgaacacatccgagtacaaaattctttgtcctggaggggaaggtttccgaccaaatcctatcaccgttatattggaagatattgatgagtgccaggagctaccagggctgtgccaaggaggaaaatgtatcaacacctttgggagtttccagtgccgctgtccaaccggctactacctgaatgaagatacacgagtgtgtgatgatgtgaatgaatgtgagactcctggaatctgtggtccagggacatgttacaacaccgttggcaactacacctgtatctgtcctccagactacatgcaagtgaatgggggaaataattgcatggatatgagaagaagtttgtgctacagaaactactatgctgacaaccagacctgtgatggagaattgttattcaacatgaccaagaagatgtgctgctgttcctacaacattggccgggcgtggaacaagccctgtgaacagtgtcccatcccaagtacagatgagtttgctacactctgtggaagtcaaaggccaggctttgtcatcgacatttataccggtttacccgttgatattgatgagtgccgggagatcccaggggtctgtgaaaatggagtgtgtatcaacatggttggcagcttccgatgtgaatgtccagtgggattcttctataatgacaagttgttggtttgtgaagatattgacgagtgtcagaacggcccagtgtgccagcgcaacgccgaatgcatcaacactgcaggcagctaccgctgtgactgtaagcccggctaccgcttcacctccacaggacagtgcaatgatcgtaatgaatgtcaagaaatccccaatatatgcagtcatgggcagtgcattgacacagttggaagcttttattgcctttgccacactggttttaaaacaaatgatgaccaaaccatgtgcttggacataaatgaatgtgaaagagatgcctgtgggaatggaacttgccggaacacaattggttccttcaactgccgctgcaatcatggtttcatcctttctcacaacaatgactgtatagatgttgatgaatgtgcaagtggaaatgggaatctttgcagaaatggccaatgcattaatacagtggggtctttccagtgccagtgcaatgaaggctatgaggtggctccagatgggaggacctgtgtggatatcaatgaatgtcttctagaacccagaaaatgtgcaccaggtacctgtcaaaacttggatgggtcctacagatgcatttgcccacctggatacagtcttcaaaatgagaagtgtgaagatattgatgagtgtgtcgaagagccagaaatttgtgccctgggcacatgcagtaacactgaaggcagcttcaaatgtctgtgtccagaagggttttccttgtcctccagtggaagaaggtgccaagatttgcgaatgagctactgttatgcgaagtttgaaggaggaaagtgttcatcacccaaatccagaaatcactccaagcaggaatgctgctgtgccttgaagggagaaggctggggagacccctgcgagctctgccccacggaacctgatgaggccttccgccagatatgtccttatggaagtgggatcatcgtgggacctgatgattcagcagttgatatggacgaatgcaaagaacccgatgtctgtaaacatggacagtgcatcaatacagatggttcctatcgctgcgagtgtccctttggttatattctagcagggaatgaatgtgtagatactgatgaatgttctgttggcaatccttgtggaaatggaacctgcaagaatgtgattggaggttttgaatgcacctgcgaggagggatttgagcccggtccaatgatgacatgtgaagatataaatgaatgtgcccagaatcctctgctctgtgccttccgatgtgtgaacacttatgggtcatatgaatgcaaatgtcccgtgggatatgtgctcagagaagaccgtaggatgtgcaaagatgaggatgagtgtgaagagggaaaacatgactgtactgaaaaacaaatggaatgcaagaacctcattggcacatatatgtgcatctgtggacccgggtatcagcggagacctgatggagaaggctgtgtagatgagaatgaatgtcagacgaagccagggatctgtgagaatgggcgctgcctcaacacccgtgggagctacacctgtgagtgtaatgatgggtttaccgccagccccaaccaggacgagtgccttgacaatcgggaagggtactgcttcacagaggtgctacaaaacatgtgtcagatcggctccagcaacaggaaccccgtcaccaaatcggaatgctgctgtgacggagggagaggctggggtccccactgtgagatctgccctttccaggggactgtggctttcaagaaactctgtccccatggccgaggattcatgaccaatggagcagatatcgatgaatgcaaggttattcacgatgtttgccgaaatggggaatgtgtcaatgacagaggatcatatcattgcatttgtaaaactgggtacactccagatataactgggacttcctgtgtagatctgaacgagtgcaaccaggctcccaaaccctgcaattttatctgcaaaaacacagaagggagttaccagtgttcatgcccgaaaggctacattctgcaagaggatggaaggagctgcaaagatcttgatgagtgtgcaaccaagcaacacaactgccagttcctatgtgttaacaccattggcggcttcacatgcaaatgtcctcccggatttacccaacaccatacgtcctgcattgataacaatgaatgcacctctgacatcaatctgtgcgggtctaagggcatttgccagaacactcctggaagcttcacctgtgaatgccagcggggattctcacttgatcagaccggctccagctgtgaagacgtggacgagtgtgagggtaaccaccgctgccagcatggctgccagaacatcattgggggctacaggtgcagctgcccccagggctacctccagcactaccagtggaaccagtgtgttgatgaaaacgaatgcctcagcgctcacatctgcggaggagcctcctgtcacaacaccctggggagctacaagtgcatgtgtcccgccggcttccagtatgaacagttcagtggaggatgccaagacatcaatgaatgtggctctgcgcaggccccctgcagctatggctgttccaataccgagggcggttacctgtgtggctgtccacctggttacttccgcataggccaagggcactgtgtttctggaatgggcatgggccgaggaaacccagagccacctgtcagtggtgaaatggatgacaattcactctccccagaggcttgttacgagtgtaagatcaatggctaccccaaacggggcaggaaacggagaagcacaaacgaaactgatgcctccaatatcgaggatcagtctgagacagaagccaatgtgagtcttgcaagttgggatgttgagaagacagccatctttgctttcaatatttcccacgtcagtaacaaggttcgaatcctagaactccttccagctcttacaactctgacgaatcacaacagatacttgatcgaatctggaaatgaagatggcttctttaaaatcaaccaaaaggaagggatcagctacctccacttcacaaagaagaagccagtggctggaacctattcattacaaatcagtagtactccactttataaaaagaaagaacttaaccaactagaagacaaatatgacaaagactacctcagtggtgaactgggtgataatctgaagatgaaaatccaggttttgcttcattaattcaccatccagagaccaaataattaaaagaaaaacaaatatagataggtagaactatattttcccccaatcagaatcatcatatcataggtacaatctttcaccaagtaaatttgtataaataagcactattctttgtattaccaaagcaaggtacaggtgactaccctagttcaaaacaaccactttctcaggcttctcatgtgtgtagctaagctaccttgtcatatgtgttgattcttgaaaactgggacgtgtatttccattgggggttggccatttatgctgacatgccatccttccagcaaacgtacgggaatgtgctttcaattgatggactactctattttttgcaaatttgtaaactttgcttctccaaatacaagtactaggttgtccatttatggtacctatttggtgctagtaaattttcaaactagatttataaatgcactgtaatatgtacacaacttagaaaccaaattacaagtattcagttccaatacttcattaatttcaatcaaccaaagttagttcagtagcttatctcagttatgagtataatacattacatgtaaattaagtgtgtgtatactgtaatcgtgctattttttatcattgaaacatttataaactagaataataatgcccttaatgtgagggtttgtaatggtgcttattaagaccaaagacttgttaaatgtatacaccaagtggtaatgaaatttcggtgactggcccacacgtgcatagaggtctgggaggaccaggaaacagcctcagtggccagaggatcaccagtgcatccttcatcacagcatgtgcaatatgccaagattaccctcggtcattcctgtcaacaaggggtcaatgtcataaatgtcacaataaaacaatctcttcttttttttagtttaccccttggctttgtgttcttgcatggatttggggttggaggggccattccggaggctaaataaagtctcctggatttaaattatcctgggtctcttacttatggcttatgaaagtaccaaatgtataaccactagaagaaaatttaacatatgagtcgatcccttgttttatccattgaaagtagcagagtctggtgtcattaacctgacttgcttgtgagaaatttagattgtagagtcatttctgaaacatgacctaattcatcttgtgacttttaaatagtcttaaataccaagttcagtcattgtcttagagcacatgaatttcattataatagatttatcatgcccccctctcaaatatacacagttttggcaagccttaggtgttctgttccatttttttttcccctaaacatctttcgttagtcaatgctcatctaattacaaagggataatcccagactgtatccaattgctgtaacttttggtttcttaatgtcataatttttaaagtctgttttattttaagtgcaatattgagtatttagctgttaggctcaatccgtcgatatgaaataattttttaaatccctaagggcaggaaagcatttcgtggtagtgaaaataagaggaaataagatggcatgaaggtggtgggcggagaaactaggtaggacacaggaaagtgctctcaaaaatctttgaagagctcagctgaaaaaaatggagtagatttggctcatactattccggaaggcaaaaccagggtcagctgatgtcagccccagtttaatacacacggtcccaattatagagctactcactgaaagaatgggtttccttgcattgtggtgagctccctgtcacaagatagaagagtttcagtctaggcttaatggcaaccattggacaaagatgctttcttccacctaacaggccattaacatcttaaaggtatttttgtatctctaattttgtttataataggtgctcaacagaatgagctgaatggctgttacaaagggggtttgtaccttgggtaagagattaaaatataactcaaaatttccttctaacgctgcacctatggaaccatgtgatagaggtgtattaaaattgttatcgaagaatatatagcatatggtaaacaacagtttgcatatggaaaatgtctttgataatttaaccagaactgcattatattcaataacggattttctttataacaaacaacaggggaaaatggagttggcacacagtggatcactttgatatttttaatagtccaagtctggattttatttattcctgagccaacaattttgaacagcatattttccatgtttctgactgtaacaaaacattttcctcattgttccattgtaaatattcctcttgttggaactctttttaatcctgagatttaaacctgtacctttcaattgtctgtgacctttcaatttcactttcaatagttgaagaacttggctttgtaaatctctcagaagcttgaaaatatcttgtctctaccccctcagcccatttcatttgccaataattattttgtaagtagggttgaaatgaactcagctggccttgtgaaatgtttaaacttgcacaaacaactacatttttgttcaacaaatagcagtttactcagccaaaatcactttggatattgccattacaaatactgttaaacttcagaaatcatgtctgtaaattagatgagccaaaataaaggacaattgggttgatgctgca
//
ANNOTATIONS from NCBI Entrez Gene (20130726):
GeneID:2200 -> Molecular function: GO:0005201 [extracellular matrix structural constituent] evidence: IDA
GeneID:2200 -> Molecular function: GO:0005509 [calcium ion binding] evidence: IDA
GeneID:2200 -> Molecular function: GO:0005515 [protein binding] evidence: IPI
GeneID:2200 -> Biological process: GO:0001501 [skeletal system development] evidence: IMP
GeneID:2200 -> Biological process: GO:0007507 [heart development] evidence: IMP
GeneID:2200 -> Biological process: GO:0030198 [extracellular matrix organization] evidence: TAS
GeneID:2200 -> Biological process: GO:0035582 [sequestering of BMP in extracellular matrix] evidence: ISS
GeneID:2200 -> Biological process: GO:0035583 [sequestering of TGFbeta in extracellular matrix] evidence: ISS
GeneID:2200 -> Cellular component: GO:0001527 [microfibril] evidence: IDA
GeneID:2200 -> Cellular component: GO:0005576 [extracellular region] evidence: TAS
GeneID:2200 -> Cellular component: GO:0005578 [proteinaceous extracellular matrix] evidence: IDA
GeneID:2200 -> Cellular component: GO:0005604 [basement membrane] evidence: IDA
GeneID:2200 -> Cellular component: GO:0005615 [extracellular space] evidence: IDA
GeneID:2200 -> Cellular component: GO:0031012 [extracellular matrix] evidence: IDA
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