Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

P35555

- FBN1_HUMAN

UniProt

P35555 - FBN1_HUMAN

Protein

Fibrillin-1

Gene

FBN1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 180 (01 Oct 2014)
      Sequence version 3 (02 Nov 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    Functioni

    Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-1-containing microfibrils provide long-term force bearing structural support. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.1 Publication

    GO - Molecular functioni

    1. calcium ion binding Source: UniProtKB
    2. extracellular matrix structural constituent Source: UniProtKB
    3. protein binding Source: UniProtKB

    GO - Biological processi

    1. extracellular matrix disassembly Source: Reactome
    2. extracellular matrix organization Source: Reactome
    3. heart development Source: UniProtKB
    4. kidney development Source: Ensembl
    5. sequestering of BMP in extracellular matrix Source: BHF-UCL
    6. sequestering of TGFbeta in extracellular matrix Source: BHF-UCL
    7. skeletal system development Source: UniProtKB

    Keywords - Ligandi

    Calcium

    Enzyme and pathway databases

    ReactomeiREACT_118572. Degradation of the extracellular matrix.
    REACT_13552. Integrin cell surface interactions.
    REACT_150331. Molecules associated with elastic fibres.
    REACT_150366. Elastic fibre formation.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fibrillin-1
    Gene namesi
    Name:FBN1
    Synonyms:FBN
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 15

    Organism-specific databases

    HGNCiHGNC:3603. FBN1.

    Subcellular locationi

    Secretedextracellular spaceextracellular matrix 1 Publication

    GO - Cellular componenti

    1. basement membrane Source: UniProtKB
    2. extracellular region Source: Reactome
    3. extracellular space Source: UniProtKB
    4. extracellular vesicular exosome Source: UniProt
    5. microfibril Source: UniProtKB
    6. proteinaceous extracellular matrix Source: UniProtKB

    Keywords - Cellular componenti

    Extracellular matrix, Secreted

    Pathology & Biotechi

    Involvement in diseasei

    Marfan syndrome (MFS) [MIM:154700]: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.33 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry. The majority of the more than 600 mutations in FBN1 currently known are point mutations, the rest are frameshifts and splice site mutations. Marfan syndrome has been suggested in at least 2 historical figures, Abraham Lincoln and Paganini.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti20 – 201Y → C in MFS. 1 Publication
    VAR_023859
    Natural varianti62 – 621R → C in MFS; also in a patient with ectopia lentis and retinal detachment. 1 Publication
    Corresponds to variant rs25403 [ dbSNP | Ensembl ].
    VAR_017967
    Natural varianti80 – 801C → G in MFS. 1 Publication
    VAR_065981
    Natural varianti89 – 891C → F in MFS. 1 Publication
    Corresponds to variant rs112660651 [ dbSNP | Ensembl ].
    VAR_017968
    Natural varianti111 – 1111C → R in MFS. 1 Publication
    VAR_002276
    Natural varianti114 – 1141R → C in MFS. 1 Publication
    VAR_017969
    Natural varianti122 – 1221R → C in MFS. 3 Publications
    Corresponds to variant rs137854467 [ dbSNP | Ensembl ].
    VAR_002277
    Natural varianti123 – 1231C → Y in MFS. 1 Publication
    VAR_023860
    Natural varianti129 – 1291C → Y in MFS; severe neonatal. 1 Publication
    VAR_002278
    Natural varianti154 – 1541C → S in MFS. 1 Publication
    VAR_017971
    Natural varianti166 – 1661C → F in MFS. 1 Publication
    VAR_002279
    Natural varianti166 – 1661C → S in MFS. 1 Publication
    VAR_002280
    Natural varianti177 – 1771C → R in MFS. 1 Publication
    Corresponds to variant rs363853 [ dbSNP | Ensembl ].
    VAR_023861
    Natural varianti217 – 2171W → G in MFS. 2 Publications
    VAR_002281
    Natural varianti224 – 2241C → R in MFS. 1 Publication
    VAR_023862
    Natural varianti240 – 2401R → C in MFS and ECTOL1. 3 Publications
    Corresponds to variant rs137854480 [ dbSNP | Ensembl ].
    VAR_017972
    Natural varianti366 – 3661W → C in MFS. 1 Publication
    VAR_017973
    Natural varianti439 – 4391R → G in MFS. 1 Publication
    VAR_023863
    Natural varianti476 – 4761C → G in MFS.
    VAR_002282
    Natural varianti490 – 4901D → Y in MFS. 1 Publication
    VAR_002283
    Natural varianti499 – 4991C → Y in MFS. 1 Publication
    VAR_065982
    Natural varianti504 – 5041C → F in MFS. 1 Publication
    VAR_010776
    Natural varianti507 – 5071Missing in MFS. 1 Publication
    VAR_023864
    Natural varianti541 – 5411C → Y in MFS. 1 Publication
    VAR_023865
    Natural varianti545 – 5451R → C in MFS. 2 Publications
    VAR_002284
    Natural varianti548 – 5481N → I in MFS. 1 Publication
    Corresponds to variant rs137854462 [ dbSNP | Ensembl ].
    VAR_002285
    Natural varianti560 – 5601G → S in MFS. 1 Publication
    VAR_017974
    Natural varianti570 – 5701C → Y in MFS. 1 Publication
    VAR_017975
    Natural varianti587 – 5871C → Y in MFS. 2 Publications
    VAR_002286
    Natural varianti592 – 5921G → D in MFS. 1 Publication
    VAR_017976
    Natural varianti596 – 5961C → Y in MFS. 1 Publication
    VAR_017977
    Natural varianti598 – 5981C → W in MFS. 1 Publication
    VAR_017978
    Natural varianti611 – 6111C → R in MFS. 1 Publication
    VAR_065983
    Natural varianti617 – 6171C → G in MFS. 1 Publication
    VAR_065984
    Natural varianti627 – 6271R → C in MFS; enhances proteolytic degradation. 3 Publications
    VAR_002287
    Natural varianti628 – 6281C → K in MFS; requires 2 nucleotide substitutions.
    VAR_023866
    Natural varianti629 – 6335Missing in MFS.
    VAR_023867
    Natural varianti635 – 6351Y → C in MFS. 1 Publication
    VAR_023868
    Natural varianti636 – 6361R → I in MFS. 1 Publication
    VAR_023869
    Natural varianti652 – 6521C → S in MFS. 1 Publication
    VAR_017979
    Natural varianti654 – 6541D → N in MFS. 1 Publication
    VAR_017980
    Natural varianti661 – 6611C → R in MFS.
    VAR_002288
    Natural varianti681 – 6811S → Y in MFS. 1 Publication
    VAR_017982
    Natural varianti683 – 6831C → R in MFS. 1 Publication
    VAR_017983
    Natural varianti685 – 6851C → W in MFS. 2 Publications
    Corresponds to variant rs140603 [ dbSNP | Ensembl ].
    VAR_017984
    Natural varianti685 – 6851C → Y in MFS. 1 Publication
    VAR_065985
    Natural varianti705 – 7051A → T in MFS. 2 Publications
    VAR_002289
    Natural varianti711 – 7111C → Y in MFS. 2 Publications
    VAR_002290
    Natural varianti723 – 7231D → A in MFS. 1 Publication
    Corresponds to variant rs137854463 [ dbSNP | Ensembl ].
    VAR_002291
    Natural varianti723 – 7231D → V in MFS. 1 Publication
    VAR_017985
    Natural varianti734 – 7341C → F in MFS. 1 Publication
    VAR_017986
    Natural varianti746 – 7461Y → C in MFS. 1 Publication
    VAR_002292
    Natural varianti748 – 7481C → Y in MFS. 1 Publication
    VAR_017987
    Natural varianti750 – 7501C → G in MFS; enhances proteolytic degradation. 1 Publication
    VAR_002293
    Natural varianti776 – 7761C → G in MFS. 1 Publication
    VAR_017988
    Natural varianti776 – 7761C → Y in MFS. 1 Publication
    VAR_017989
    Natural varianti781 – 7811C → R in MFS. 2 Publications
    VAR_017990
    Natural varianti781 – 7811C → Y in MFS. 1 Publication
    VAR_023870
    Natural varianti790 – 7901C → Y in MFS. 1 Publication
    VAR_065986
    Natural varianti811 – 8111C → Y in MFS. 1 Publication
    VAR_065987
    Natural varianti816 – 8161C → S in MFS. 1 Publication
    VAR_017991
    Natural varianti832 – 8321C → Y in MFS. 1 Publication
    VAR_023871
    Natural varianti853 – 8531C → S in MFS. 1 Publication
    VAR_065988
    Natural varianti862 – 8621C → R in MFS. 1 Publication
    VAR_002294
    Natural varianti890 – 8901C → G in MFS. 1 Publication
    VAR_023872
    Natural varianti890 – 8901C → R in MFS. 1 Publication
    VAR_017992
    Natural varianti908 – 9081C → R in MFS. 1 Publication
    VAR_017993
    Natural varianti913 – 9131E → G in MFS. 1 Publication
    VAR_017994
    Natural varianti921 – 9211C → G in MFS. 1 Publication
    VAR_017995
    Natural varianti926 – 9261C → R in MFS; enhances proteolytic degradation. 1 Publication
    VAR_002295
    Natural varianti926 – 9261C → Y in MFS. 1 Publication
    VAR_065989
    Natural varianti984 – 9841V → I in MFS. 1 Publication
    VAR_002296
    Natural varianti985 – 9851G → E in MFS; atypical. 1 Publication
    Corresponds to variant rs137854477 [ dbSNP | Ensembl ].
    VAR_018319
    Natural varianti985 – 9851G → R in MFS. 2 Publications
    VAR_017996
    Natural varianti996 – 9961C → R in MFS.
    Corresponds to variant rs140592 [ dbSNP | Ensembl ].
    VAR_002297
    Natural varianti1013 – 10131G → R in MFS; severe neonatal. 4 Publications
    Corresponds to variant rs140593 [ dbSNP | Ensembl ].
    VAR_002298
    Natural varianti1023 – 10231K → N in MFS; severe neonatal. 1 Publication
    VAR_002299
    Natural varianti1043 – 10431K → R in MFS.
    Corresponds to variant rs137854472 [ dbSNP | Ensembl ].
    VAR_002300
    Natural varianti1044 – 10441C → Y in MFS. 1 Publication
    VAR_017997
    Natural varianti1048 – 10481I → T in MFS.
    VAR_002301
    Natural varianti1048 – 10481Missing in MFS.
    VAR_002302
    Natural varianti1053 – 10531C → R in MFS. 1 Publication
    VAR_002303
    Natural varianti1055 – 10551C → G in MFS; neonatal. 2 Publications
    VAR_002304
    Natural varianti1055 – 10551C → W in MFS. 1 Publication
    VAR_017998
    Natural varianti1055 – 10551C → Y in MFS. 1 Publication
    VAR_017999
    Natural varianti1058 – 10581G → D in MFS. 1 Publication
    VAR_023873
    Natural varianti1058 – 10581G → GC in MFS.
    VAR_002305
    Natural varianti1068 – 10681C → G in MFS; neonatal form. 1 Publication
    VAR_064503
    Natural varianti1072 – 10721D → G in MFS. 1 Publication
    VAR_002306
    Natural varianti1073 – 10731E → K in MFS; severe neonatal. 2 Publications
    Corresponds to variant rs137854478 [ dbSNP | Ensembl ].
    VAR_002307
    Natural varianti1074 – 10741C → R in MFS; severe neonatal. 2 Publications
    Corresponds to variant rs137854465 [ dbSNP | Ensembl ].
    VAR_002308
    Natural varianti1086 – 10861C → W in MFS.
    VAR_002309
    Natural varianti1090 – 10901P → S in MFS. 1 Publication
    VAR_065990
    Natural varianti1101 – 11011Y → C in MFS. 2 Publications
    VAR_018000
    Natural varianti1113 – 11131D → V in MFS. 1 Publication
    VAR_023874
    Natural varianti1117 – 11171C → G in MFS. 1 Publication
    VAR_002310
    Natural varianti1117 – 11171C → Y in MFS. 2 Publications
    Corresponds to variant rs137854470 [ dbSNP | Ensembl ].
    VAR_002311
    Natural varianti1129 – 11291C → Y in MFS. 1 Publication
    Corresponds to variant rs137854482 [ dbSNP | Ensembl ].
    VAR_010777
    Natural varianti1131 – 11311N → Y in MFS.
    Corresponds to variant rs137854473 [ dbSNP | Ensembl ].
    VAR_002313
    Natural varianti1137 – 11371R → P in MFS. 2 Publications
    Corresponds to variant rs137854456 [ dbSNP | Ensembl ].
    VAR_002314
    Natural varianti1153 – 11531C → S in MFS. 1 Publication
    VAR_023875
    Natural varianti1153 – 11531C → Y in MFS; severe. 2 Publications
    Corresponds to variant rs140599 [ dbSNP | Ensembl ].
    VAR_002316
    Natural varianti1155 – 11551D → N in MFS. 1 Publication
    VAR_002317
    Natural varianti1170 – 11701R → H in MFS; mild. 2 Publications
    Corresponds to variant rs137854475 [ dbSNP | Ensembl ].
    VAR_002318
    Natural varianti1171 – 11711C → W in MFS. 1 Publication
    VAR_002319
    Natural varianti1173 – 11731N → K in MFS. 1 Publication
    VAR_002320
    Natural varianti1185 – 11851G → D in MFS. 1 Publication
    VAR_065991
    Natural varianti1200 – 12001E → G in MFS. 1 Publication
    VAR_018002
    Natural varianti1211 – 12111Missing in MFS. 1 Publication
    VAR_023876
    Natural varianti1219 – 12191Y → C in MFS. 1 Publication
    VAR_023877
    Natural varianti1223 – 12231C → Y in MFS; also found in a patient with Shprintzen-Goldberg craniosynostosis syndrome. 2 Publications
    Corresponds to variant rs137854469 [ dbSNP | Ensembl ].
    VAR_002321
    Natural varianti1242 – 12421C → Y in MFS. 1 Publication
    Corresponds to variant rs137854471 [ dbSNP | Ensembl ].
    VAR_002322
    Natural varianti1249 – 12491C → S in MFS. 1 Publication
    Corresponds to variant rs137854458 [ dbSNP | Ensembl ].
    VAR_002323
    Natural varianti1261 – 12611Y → C in MFS. 1 Publication
    VAR_010778
    Natural varianti1261 – 12611Y → D in MFS. 1 Publication
    VAR_023878
    Natural varianti1265 – 12651C → R in MFS. 1 Publication
    Corresponds to variant rs137854474 [ dbSNP | Ensembl ].
    VAR_018320
    Natural varianti1278 – 12781C → S in MFS. 1 Publication
    VAR_023879
    Natural varianti1284 – 12841C → G in MFS. 1 Publication
    VAR_023880
    Natural varianti1284 – 12841C → Y in MFS. 1 Publication
    VAR_065992
    Natural varianti1325 – 13251E → Q in MFS. 1 Publication
    VAR_018003
    Natural varianti1333 – 13331C → S in MFS. 1 Publication
    VAR_023881
    Natural varianti1337 – 13371A → P in MFS; neonatal. 1 Publication
    VAR_018004
    Natural varianti1339 – 13391C → Y in MFS. 1 Publication
    VAR_018005
    Natural varianti1350 – 13501C → F in MFS. 1 Publication
    VAR_065993
    Natural varianti1366 – 13661E → K in MFS. 1 Publication
    VAR_018006
    Natural varianti1374 – 13741C → S in MFS. 1 Publication
    VAR_018007
    Natural varianti1382 – 13821N → S in MFS. 1 Publication
    VAR_002324
    Natural varianti1389 – 13891C → R in MFS. 1 Publication
    VAR_018008
    Natural varianti1394 – 13963Missing in MFS.
    VAR_018009
    Natural varianti1401 – 14011T → A in MFS. 1 Publication
    VAR_065994
    Natural varianti1402 – 14021C → R in MFS. 1 Publication
    VAR_023882
    Natural varianti1404 – 14041D → Y in MFS. 1 Publication
    VAR_002325
    Natural varianti1424 – 14241P → A in MFS. 1 Publication
    VAR_018010
    Natural varianti1424 – 14241P → S in MFS. 1 Publication
    VAR_023883
    Natural varianti1429 – 14291C → S in MFS. 1 Publication
    VAR_018011
    Natural varianti1431 – 14311C → W in MFS. 1 Publication
    Corresponds to variant rs112375043 [ dbSNP | Ensembl ].
    VAR_065995
    Natural varianti1431 – 14311C → Y in MFS. 1 Publication
    VAR_065996
    Natural varianti1475 – 14751G → E in MFS. 1 Publication
    VAR_023884
    Natural varianti1475 – 14751G → S in MFS. 1 Publication
    VAR_023885
    Natural varianti1487 – 14871D → A in MFS. 1 Publication
    VAR_065998
    Natural varianti1489 – 14891N → K in MFS. 1 Publication
    VAR_065999
    Natural varianti1513 – 15131C → R in MFS. 1 Publication
    VAR_002326
    Natural varianti1564 – 15641C → F in MFS. 1 Publication
    VAR_023886
    Natural varianti1564 – 15641C → Y in MFS. 1 Publication
    VAR_018013
    Natural varianti1576 – 15761M → T in MFS. 1 Publication
    VAR_023887
    Natural varianti1589 – 15891C → F in MFS. 1 Publication
    VAR_002327
    Natural varianti1610 – 16101C → G in MFS. 1 Publication
    VAR_002328
    Natural varianti1631 – 16311C → G in MFS. 1 Publication
    VAR_023888
    Natural varianti1663 – 16631C → R in MFS. 1 Publication
    Corresponds to variant rs137854459 [ dbSNP | Ensembl ].
    VAR_002329
    Natural varianti1663 – 16631C → Y in MFS. 1 Publication
    VAR_023889
    Natural varianti1770 – 17701C → F in MFS. 1 Publication
    VAR_018015
    Natural varianti1790 – 17901R → P in MFS. 2 Publications
    VAR_018016
    Natural varianti1791 – 17911C → R in MFS. 1 Publication
    VAR_023890
    Natural varianti1791 – 17911C → Y in MFS. 1 Publication
    VAR_018017
    Natural varianti1793 – 17931C → W in MFS. 1 Publication
    VAR_018018
    Natural varianti1796 – 17961G → E in MFS. 1 Publication
    VAR_018019
    Natural varianti1806 – 18061C → S in MFS. 1 Publication
    VAR_018020
    Natural varianti1806 – 18061C → Y in MFS.
    VAR_023891
    Natural varianti1833 – 18331C → S in MFS. 1 Publication
    VAR_010779
    Natural varianti1835 – 18351C → Y in MFS. 2 Publications
    Corresponds to variant rs111929350 [ dbSNP | Ensembl ].
    VAR_018021
    Natural varianti1837 – 18371P → S in MFS.
    VAR_002330
    Natural varianti1838 – 18381G → C in MFS. 1 Publication
    VAR_066000
    Natural varianti1876 – 18761C → Y in MFS. 1 Publication
    Corresponds to variant rs112728248 [ dbSNP | Ensembl ].
    VAR_023892
    Natural varianti1887 – 18871T → I in MFS. 1 Publication
    VAR_023893
    Natural varianti1893 – 18931N → K in MFS. 1 Publication
    VAR_002331
    Natural varianti1895 – 18951C → R in MFS. 1 Publication
    VAR_023894
    Natural varianti1900 – 19001C → Y in MFS. 2 Publications
    VAR_023895
    Natural varianti1909 – 19091I → T in MFS. 2 Publications
    VAR_018022
    Natural varianti1915 – 19151R → S in MFS. 1 Publication
    VAR_018023
    Natural varianti1928 – 19281C → G in MFS. 1 Publication
    VAR_023896
    Natural varianti1928 – 19281C → R in MFS. 1 Publication
    VAR_002332
    Natural varianti1928 – 19281C → Y in MFS. 1 Publication
    VAR_023897
    Natural varianti1931 – 19311Missing in MFS. 1 Publication
    VAR_018024
    Natural varianti1934 – 19341C → S in MFS. 1 Publication
    VAR_066001
    Natural varianti1971 – 19711C → Y in MFS. 1 Publication
    VAR_018025
    Natural varianti1976 – 19761E → G in MFS. 1 Publication
    VAR_066002
    Natural varianti1977 – 19771C → Y in MFS. 1 Publication
    VAR_018026
    Natural varianti1984 – 19841C → R in MFS. 1 Publication
    VAR_066003
    Natural varianti1998 – 19981C → Y in MFS. 1 Publication
    VAR_018027
    Natural varianti2038 – 20381C → Y in MFS. 1 Publication
    Corresponds to variant rs363804 [ dbSNP | Ensembl ].
    VAR_023898
    Natural varianti2085 – 20851C → R in MFS. 1 Publication
    VAR_023899
    Natural varianti2099 – 20991C → W in MFS. 1 Publication
    VAR_002333
    Natural varianti2111 – 21111C → R in MFS. 1 Publication
    Corresponds to variant rs363815 [ dbSNP | Ensembl ].
    VAR_018029
    Natural varianti2111 – 21111C → Y in MFS. 1 Publication
    VAR_002334
    Natural varianti2127 – 21271D → E in MFS. 1 Publication
    VAR_002335
    Natural varianti2142 – 21421C → Y in MFS. 1 Publication
    VAR_010780
    Natural varianti2144 – 21441N → S in MFS. 2 Publications
    Corresponds to variant rs137854461 [ dbSNP | Ensembl ].
    VAR_002336
    Natural varianti2151 – 21511C → W in MFS. 1 Publication
    VAR_002337
    Natural varianti2160 – 21601A → P in MFS. 1 Publication
    VAR_023900
    Natural varianti2166 – 21661D → N in MFS. 1 Publication
    VAR_066004
    Natural varianti2185 – 21851I → T in MFS. 1 Publication
    VAR_066005
    Natural varianti2221 – 22211C → F in MFS. 1 Publication
    VAR_023901
    Natural varianti2221 – 22211C → G in MFS. 1 Publication
    VAR_018031
    Natural varianti2221 – 22211C → S in MFS. 1 Publication
    Corresponds to variant rs137854460 [ dbSNP | Ensembl ].
    VAR_002338
    Natural varianti2223 – 22231N → H in MFS. 1 Publication
    VAR_018032
    Natural varianti2247 – 22471D → G in MFS. 1 Publication
    VAR_066006
    Natural varianti2251 – 22511C → R in MFS.
    Corresponds to variant rs112836174 [ dbSNP | Ensembl ].
    VAR_023902
    Natural varianti2258 – 22581C → R in MFS. 1 Publication
    VAR_002339
    Natural varianti2269 – 22691I → T in MFS. 1 Publication
    VAR_018033
    Natural varianti2282 – 22821R → W in MFS. 2 Publications
    VAR_002340
    Natural varianti2307 – 23071C → S in MFS. 2 Publications
    Corresponds to variant rs137854457 [ dbSNP | Ensembl ].
    VAR_002341
    Natural varianti2318 – 23181C → R in MFS. 1 Publication
    Corresponds to variant rs111588631 [ dbSNP | Ensembl ].
    VAR_066007
    Natural varianti2335 – 23351R → W in MFS. 1 Publication
    VAR_018034
    Natural varianti2385 – 23851A → T in MFS. 1 Publication
    VAR_023903
    Natural varianti2406 – 24061C → Y in MFS. 2 Publications
    VAR_018036
    Natural varianti2442 – 24421C → S in MFS. 1 Publication
    VAR_066008
    Natural varianti2442 – 24421C → W in MFS. 1 Publication
    VAR_018037
    Natural varianti2474 – 24741Y → C in MFS. 1 Publication
    VAR_018038
    Natural varianti2489 – 24891C → R in MFS. 1 Publication
    VAR_002343
    Natural varianti2500 – 25001C → R in MFS. 1 Publication
    VAR_023904
    Natural varianti2500 – 25001C → Y in MFS. 1 Publication
    VAR_023905
    Natural varianti2511 – 25111C → R in MFS. 2 Publications
    VAR_002344
    Natural varianti2535 – 25351C → W in MFS. 1 Publication
    Corresponds to variant rs113544411 [ dbSNP | Ensembl ].
    VAR_023906
    Natural varianti2536 – 25361G → R in MFS. 1 Publication
    VAR_023907
    Natural varianti2570 – 25701E → K in MFS. 1 Publication
    VAR_023908
    Natural varianti2571 – 25711C → R in MFS. 1 Publication
    VAR_023909
    Natural varianti2581 – 25811C → F in MFS. 1 Publication
    VAR_018039
    Natural varianti2585 – 25851I → T in MFS. 2 Publications
    VAR_018040
    Natural varianti2592 – 25921C → S in MFS. 1 Publication
    VAR_023910
    Natural varianti2605 – 26051C → R in MFS.
    VAR_023911
    Natural varianti2605 – 26051C → Y in MFS. 1 Publication
    VAR_023912
    Natural varianti2606 – 26061Missing in MFS. 1 Publication
    VAR_066009
    Natural varianti2610 – 26101E → K in MFS; unclear pathological significance. 2 Publications
    Corresponds to variant rs111984349 [ dbSNP | Ensembl ].
    VAR_023913
    Natural varianti2618 – 26181G → R in MFS. 1 Publication
    Corresponds to variant rs141133182 [ dbSNP | Ensembl ].
    VAR_018041
    Natural varianti2623 – 26231H → P in MFS. 1 Publication
    VAR_002345
    Natural varianti2624 – 26241N → K in MFS. 1 Publication
    VAR_018042
    Natural varianti2627 – 26271G → R in MFS. 1 Publication
    VAR_002346
    Natural varianti2629 – 26291Y → C in MFS. 1 Publication
    VAR_023914
    Natural varianti2646 – 26461C → R in MFS. 1 Publication
    VAR_066010
    Natural varianti2652 – 26521C → G in MFS. 1 Publication
    VAR_018043
    Natural varianti2663 – 26631C → S in MFS. 1 Publication
    VAR_023915
    Natural varianti2668 – 26681G → C in MFS. 1 Publication
    VAR_018044
    Natural varianti2680 – 26801R → C in MFS.
    VAR_002347
    Natural varianti2726 – 27261R → W in MFS; defects in protein processing. 1 Publication
    Corresponds to variant rs61746008 [ dbSNP | Ensembl ].
    VAR_002348
    Ectopia lentis 1, isolated, autosomal dominant (ECTOL1) [MIM:129600]: An ocular abnormality characterized by partial or complete displacement of the lens from its space resulting from defective zonule formation.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti115 – 1151S → C in ECTOL1. 1 Publication
    VAR_017970
    Natural varianti240 – 2401R → C in MFS and ECTOL1. 3 Publications
    Corresponds to variant rs137854480 [ dbSNP | Ensembl ].
    VAR_017972
    Natural varianti661 – 6611C → Y in ECTOL1; patient presenting also mitral valve prolapse. 1 Publication
    VAR_017981
    Natural varianti2154 – 21541P → R in ECTOL1. 1 Publication
    VAR_018030
    Natural varianti2339 – 23391C → Y in ECTOL1; patient presenting also flat corneas. 1 Publication
    VAR_018035
    Natural varianti2447 – 24471E → K in ECTOL1. 2 Publications
    Corresponds to variant rs137854464 [ dbSNP | Ensembl ].
    VAR_002342