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P35555

- FBN1_HUMAN

UniProt

P35555 - FBN1_HUMAN

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Protein

Fibrillin-1

Gene
FBN1, FBN
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

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
Complete GO annotation...

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
Complete GO annotation...

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.
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.33 Publications
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. 4 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. 2 Publications
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. 2 Publications
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 and SGS. 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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
Weill-Marchesani syndrome 2 (WMS2) [MIM:608328]: A rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and eye abnormalities including microspherophakia, ectopia lentis, severe myopia and glaucoma.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1692 – 16998Missing in WMS2.
VAR_018014
Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212]: A very rare syndrome characterized by a marfanoid habitus, craniosynostosis, characteristic dysmorphic facial features, skeletal and cardiovascular abnormalities, mental retardation, developmental delay and learning disabilities.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1223 – 12231C → Y in MFS and SGS. 2 Publications
Corresponds to variant rs137854469 [ dbSNP | Ensembl ].
VAR_002321
Overlap connective tissue disease (OCTD) [MIM:604308]: Heritable disorder of connective tissue characterized by involvement of the mitral valve, aorta, skeleton, and skin. MASS syndrome is closely resembling both the Marfan syndrome and the Barlow syndrome. However, no dislocation of the lenses or aneurysmal changes occur in the aorta, and the mitral valve prolapse is by no means invariable.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Stiff skin syndrome (SSKS) [MIM:184900]: A syndrome characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1564 – 15641C → S in SSKS. 1 Publication
VAR_064046
Natural varianti1570 – 15701W → C in SSKS. 1 Publication
VAR_064047
Natural varianti1577 – 15771C → G in SSKS. 1 Publication
VAR_064048
Natural varianti1594 – 15941G → D in SSKS. 1 Publication
VAR_064049
Geleophysic dysplasia 2 (GPHYSD2) [MIM:614185]: An autosomal dominant disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a 'happy' face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti1696 – 16961Y → C in GPHYSD2. 1 Publication
VAR_066527
Natural varianti1699 – 16991Y → C in GPHYSD2 and ACMICD. 1 Publication
VAR_066528
Natural varianti1699 – 16991Y → D in GPHYSD2. 1 Publication