Results for the protein: NP

Results for the Protein: NP_000129

281485550

2200

FBN1

NCBI

fibrillin-1 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ACROMICRIC DYSPLASIA
  ACROMICRIC DYSPLASIA, INCLUDED
  ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
  ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT, INCLUDED
  GELEOPHYSIC DYSPLASIA 2
  MARFAN SYNDROME
  MARFAN SYNDROME, ATYPICAL
  MARFAN SYNDROME, AUTOSOMAL RECESSIVE
  MARFAN SYNDROME, CLASSIC
  MARFAN SYNDROME, MILD
  MARFAN SYNDROME, MILD VARIABLE
  MARFAN SYNDROME, NEONATAL
  MARFAN SYNDROME, SEVERE CLASSIC
  MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  STIFF SKIN SYNDROME

43

6

43

6

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: TB - pfam00683 EGF_CA - smart00179 EGF_CA - cd00054 EGF_CA - pfam07645 EGF - cd00053 EGF - smart00181 EGF - pfam00008	RefSeq Protein: NP_000129 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	6.6e-10	249	287
EGF_CA	cd00054	1.8e-15	288	329
EGF	cd00053	6.5e-11	291	329
EGF_CA	cd00054	7e-09	449	489
EGF	cd00053	5e-08	452	489
EGF_CA	cd00054	1.8e-12	490	529
EGF	cd00053	9.1e-08	493	529
EGF_CA	cd00054	2.6e-16	530	571
EGF	cd00053	9.5e-11	533	571
EGF_CA	cd00054	3.4e-16	572	612
EGF	cd00053	3.2e-13	575	612
EGF_CA	cd00054	4.8e-14	613	653
EGF	cd00053	8e-10	616	653
EGF_CA	cd00054	1.1e-14	723	764
EGF	cd00053	1.7e-10	726	764
EGF_CA	cd00054	2.6e-15	765	806
EGF	cd00053	7.9e-13	768	806
EGF_CA	cd00054	3.2e-12	807	846
EGF	cd00053	1.6e-08	810	846
EGF_CA	cd00054	9.3e-17	910	951
EGF	cd00053	6.7e-12	913	951
EGF_CA	cd00054	1.5e-15	1028	1069
EGF	cd00053	9.5e-11	1031	1069
EGF_CA	cd00054	5.1e-11	1070	1112
EGF	cd00053	4.2e-07	1073	1112
EGF_CA	cd00054	1e-15	1113	1154
EGF	cd00053	1.3e-09	1116	1154
EGF_CA	cd00054	3.5e-15	1155	1196
EGF	cd00053	4.9e-10	1158	1196
EGF_CA	cd00054	1.2e-11	1197	1237
EGF	cd00053	5.3e-09	1200	1237
EGF_CA	cd00054	4.2e-14	1238	1279
EGF	cd00053	1.5e-10	1241	1279
EGF_CA	cd00054	6.9e-13	1280	1321
EGF	cd00053	4.9e-10	1283	1321
EGF_CA	cd00054	5.7e-16	1322	1362
EGF	cd00053	8.1e-11	1325	1362
EGF_CA	cd00054	2.5e-15	1363	1403
EGF	cd00053	1.8e-11	1366	1403
EGF_CA	cd00054	5.5e-15	1404	1445
EGF	cd00053	8.5e-12	1407	1445
EGF_CA	cd00054	1.4e-13	1446	1486
EGF	cd00053	1.6e-08	1449	1486
EGF_CA	cd00054	5.6e-13	1487	1527
EGF	cd00053	2.4e-08	1490	1527
EGF_CA	cd00054	1.5e-16	1606	1647
EGF	cd00053	2.9e-11	1609	1647
EGF_CA	cd00054	2e-11	1648	1688
EGF	cd00053	8.6e-09	1651	1688
EGF_CA	cd00054	6.2e-14	1766	1807
EGF	cd00053	1.4e-09	1769	1807
EGF_CA	cd00054	1.6e-13	1808	1848
EGF	cd00053	8.3e-09	1811	1848
EGF_CA	cd00054	1.8e-13	1849	1890
EGF	cd00053	8.5e-11	1852	1890
EGF_CA	cd00054	6.9e-12	1891	1929
EGF	cd00053	3.6e-08	1894	1929
EGF_CA	cd00054	1.9e-18	1930	1972
EGF	cd00053	9.4e-13	1933	1972
EGF_CA	cd00054	5.8e-15	1973	2012
EGF	cd00053	3.2e-11	1976	2012
EGF_CA	cd00054	2.6e-16	2013	2054
EGF	cd00053	4.2e-11	2016	2054
EGF_CA	cd00054	1.1e-14	2127	2165
EGF	cd00053	3.7e-11	2130	2165
EGF_CA	cd00054	1.2e-12	2166	2205
EGF	cd00053	4.7e-10	2169	2205
EGF_CA	cd00054	9.8e-15	2206	2246
EGF	cd00053	2.9e-10	2209	2246
EGF_CA	cd00054	1e-08	2247	2290
EGF	cd00053	1.6e-06	2250	2290
EGF_CA	cd00054	1.6e-12	2291	2332
EGF	cd00053	2.4e-09	2294	2332
EGF_CA	cd00054	5.9e-13	2402	2443
EGF	cd00053	2.5e-09	2405	2443
EGF_CA	cd00054	3.2e-14	2444	2484
EGF	cd00053	2.8e-10	2447	2484
EGF_CA	cd00054	3.8e-13	2485	2523
EGF	cd00053	7.4e-10	2488	2523
EGF_CA	cd00054	1.5e-13	2524	2566
EGF	cd00053	2.7e-10	2527	2566
EGF_CA	cd00054	1.6e-09	2567	2606
EGF	cd00053	2e-05	2570	2606
EGF_CA	cd00054	4.2e-13	2607	2647
EGF	cd00053	4.2e-08	2610	2647
EGF_CA	cd00054	4.2e-08	2648	2687
EGF	cd00053	0.00016	2651	2687
TB	pfam00683	7.9e-19	193	235
TB	pfam00683	2.3e-20	343	388
EGF	pfam00008	0.00059	453	484
EGF	pfam00008	4.5e-05	494	525
EGF	pfam00008	2.2e-06	534	569
EGF	pfam00008	1.5e-08	576	610
EGF	pfam00008	1.2e-05	617	651
TB	pfam00683	8.6e-21	668	710
EGF	pfam00008	4.7e-06	727	762
EGF	pfam00008	8.8e-05	769	802
TB	pfam00683	7.3e-15	860	901
EGF	pfam00008	7e-06	914	949
TB	pfam00683	2.8e-19	965	1007
EGF	pfam00008	0.00075	1032	1067
EGF	pfam00008	0.00045	1159	1192
EGF	pfam00008	0.00017	1242	1277
EGF	pfam00008	9.7e-07	1284	1315
EGF	pfam00008	6.4e-05	1326	1358
EGF	pfam00008	0.00014	1367	1399
EGF	pfam00008	4.2e-06	1408	1443
TB	pfam00683	5.8e-21	1547	1588
EGF	pfam00008	5.7e-05	1610	1643
TB	pfam00683	2.9e-20	1704	1747
EGF	pfam00008	2.9e-05	1770	1803
EGF	pfam00008	2.7e-06	1934	1970
EGF	pfam00008	0.00064	1977	2008
EGF	pfam00008	2.9e-05	2017	2052
TB	pfam00683	2.6e-19	2068	2110
EGF	pfam00008	0.00054	2170	2203
TB	pfam00683	4.2e-21	2346	2389
EGF	pfam00008	0.001	2448	2482
EGF	pfam00008	0.00039	2489	2519
EGF	pfam00008	2.2e-05	2528	2564
EGF_CA	pfam07645	1e-10	246	286
EGF_CA	smart00179	1e-15	246	287
EGF	smart00181	2.2e-09	249	287
EGF_CA	pfam07645	1.4e-08	288	328
EGF_CA	smart00179	1.2e-15	288	329
EGF	smart00181	3.4e-11	291	329
EGF_CA	smart00179	3.5e-06	451	489
EGF	smart00181	4.8e-07	452	489
EGF_CA	pfam07645	4.1e-10	490	528
EGF_CA	smart00179	2.5e-12	490	529
EGF	smart00181	9.2e-07	493	529
EGF_CA	pfam07645	7.1e-11	530	570
EGF_CA	smart00179	9.4e-17	530	571
EGF	smart00181	8.1e-12	533	571
EGF_CA	pfam07645	4.5e-09	572	611
EGF_CA	smart00179	2.2e-17	572	612
EGF	smart00181	4.4e-13	575	612
EGF_CA	pfam07645	5.3e-10	613	652
EGF_CA	smart00179	1.4e-15	613	653
EGF	smart00181	3e-10	616	653
EGF_CA	pfam07645	1e-11	723	763
EGF_CA	smart00179	9e-16	723	764
EGF	smart00181	1.2e-10	726	764
EGF_CA	pfam07645	1.8e-07	765	805
EGF_CA	smart00179	5.1e-16	765	806
EGF	smart00181	4.5e-12	768	806
EGF_CA	smart00179	1.2e-12	807	846
EGF	smart00181	5.8e-08	810	846
EGF_CA	pfam07645	2.4e-08	910	950
EGF_CA	smart00179	3.5e-18	910	951
EGF	smart00181	1.9e-12	913	951
EGF_CA	pfam07645	4e-08	1028	1068
EGF_CA	smart00179	1.6e-16	1028	1069
EGF	smart00181	7e-11	1031	1069
EGF_CA	pfam07645	4.6e-06	1070	1111
EGF_CA	smart00179	2.6e-12	1070	1112
EGF	smart00181	6.6e-07	1073	1112
EGF_CA	pfam07645	6.3e-10	1113	1153
EGF_CA	smart00179	1.5e-15	1113	1154
EGF	smart00181	1.1e-08	1116	1154
EGF_CA	pfam07645	5.4e-09	1155	1195
EGF_CA	smart00179	4.5e-16	1155	1196
EGF	smart00181	3.5e-11	1158	1196
EGF_CA	pfam07645	5.3e-06	1197	1236
EGF_CA	smart00179	5.7e-13	1197	1237
EGF	smart00181	1.6e-09	1200	1237
EGF_CA	pfam07645	9.8e-08	1238	1278
EGF_CA	smart00179	3.1e-14	1238	1279
EGF	smart00181	3.4e-10	1241	1279
EGF_CA	pfam07645	4.1e-08	1280	1320
EGF_CA	smart00179	4.1e-12	1280	1321
EGF	smart00181	9.5e-09	1283	1321
EGF_CA	pfam07645	9.9e-15	1322	1361
EGF_CA	smart00179	1.5e-15	1322	1362
EGF	smart00181	3.2e-11	1325	1362
EGF_CA	pfam07645	2.9e-15	1363	1402
EGF_CA	smart00179	8.1e-16	1363	1403
EGF	smart00181	5.2e-12	1366	1403
EGF_CA	pfam07645	9.1e-09	1404	1444
EGF_CA	smart00179	8.7e-16	1404	1445
EGF	smart00181	1.9e-12	1407	1445
EGF_CA	pfam07645	4.9e-06	1446	1485
EGF_CA	smart00179	1.2e-14	1446	1486
EGF	smart00181	1.6e-08	1449	1486
EGF_CA	pfam07645	7.4e-05	1487	1526
EGF_CA	smart00179	2.9e-13	1487	1527
EGF	smart00181	1e-08	1490	1527
EGF_CA	pfam07645	3e-11	1606	1646
EGF_CA	smart00179	1.3e-16	1606	1647
EGF	smart00181	6e-11	1609	1647
EGF_CA	pfam07645	1.5e-05	1648	1687
EGF_CA	smart00179	1.7e-12	1648	1688
EGF	smart00181	4.1e-08	1651	1688
EGF_CA	pfam07645	1.3e-10	1766	1806
EGF_CA	smart00179	9.5e-15	1766	1807
EGF	smart00181	2.6e-10	1769	1807
EGF_CA	pfam07645	3.8e-14	1808	1847
EGF_CA	smart00179	4.3e-14	1808	1848
EGF	smart00181	7.8e-09	1811	1848
EGF_CA	pfam07645	1.4e-06	1849	1889
EGF_CA	smart00179	1.2e-14	1849	1890
EGF	smart00181	1.5e-11	1852	1890
EGF_CA	pfam07645	1.2e-05	1891	1928
EGF_CA	smart00179	2e-12	1891	1929
EGF	smart00181	2.6e-07	1894	1929
EGF_CA	pfam07645	9.9e-14	1930	1971
EGF_CA	smart00179	1.2e-19	1930	1972
EGF	smart00181	2.5e-13	1933	1972
EGF_CA	pfam07645	2.2e-12	1973	2011
EGF_CA	smart00179	1.3e-15	1973	2012
EGF	smart00181	7e-11	1976	2012
EGF_CA	pfam07645	8e-12	2013	2053
EGF_CA	smart00179	2.4e-17	2013	2054
EGF	smart00181	2.1e-11	2016	2054
EGF_CA	pfam07645	2e-08	2127	2164
EGF_CA	smart00179	1.4e-15	2127	2165
EGF	smart00181	1e-10	2130	2165
EGF_CA	pfam07645	1.3e-06	2166	2204
EGF_CA	smart00179	1.9e-12	2166	2205
EGF	smart00181	1.5e-09	2169	2205
EGF_CA	pfam07645	4.3e-11	2206	2245
EGF_CA	smart00179	3.9e-16	2206	2246
EGF	smart00181	3.6e-11	2209	2246
EGF_CA	pfam07645	2e-08	2247	2289
EGF_CA	smart00179	2e-10	2247	2290
EGF	smart00181	5.1e-07	2250	2290
EGF_CA	pfam07645	2.6e-06	2291	2331
EGF_CA	smart00179	8.4e-14	2291	2332
EGF	smart00181	3e-10	2294	2332
EGF_CA	pfam07645	2.9e-08	2402	2442
EGF_CA	smart00179	2.9e-14	2402	2443
EGF	smart00181	3.3e-09	2405	2443
EGF_CA	pfam07645	1.7e-12	2444	2483
EGF_CA	smart00179	2e-14	2444	2484
EGF	smart00181	4.7e-11	2447	2484
EGF_CA	pfam07645	7.4e-14	2485	2522
EGF_CA	smart00179	6.8e-15	2485	2523
EGF	smart00181	6.7e-10	2488	2523
EGF_CA	pfam07645	0.00019	2524	2565
EGF_CA	smart00179	3.4e-14	2524	2566
EGF	smart00181	6.7e-11	2527	2566
EGF_CA	pfam07645	6.7e-07	2567	2605
EGF_CA	smart00179	4.7e-12	2567	2606
EGF	smart00181	8.7e-06	2570	2606
EGF_CA	pfam07645	8.7e-08	2607	2646
EGF_CA	smart00179	1.5e-12	2607	2647
EGF	smart00181	1.7e-07	2610	2647
EGF_CA	pfam07645	4.9e-08	2648	2686
EGF_CA	smart00179	6.4e-10	2648	2687
EGF	smart00181	0.00017	2651	2687

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs363855	Polymorphism	p.GLY363SER	N/A
dbSNP	rs363850	Polymorphism	p.HIS133GLN	N/A
dbSNP	rs12324002	Polymorphism	p.ILE329THR	N/A
dbSNP	rs140598	Polymorphism	p.PRO1148ALA	N/A
dbSNP	rs363835	Polymorphism	p.PRO2278SER	N/A
dbSNP	rs363802	Polymorphism	p.VAL2018ILE	N/A
OMIM	134797.0057	Disease	p.ALA1728THR	GELEOPHYSIC DYSPLASIA 2\|\|ACROMICRIC DYSPLASIA, INCLUDED
OMIM	134797.0018	Disease	p.ARG122CYS	MARFAN SYNDROME, ATYPICAL
OMIM	134797.0042	Disease	p.ARG240CYS	MARFAN SYNDROME\|\|ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT, INCLUDED
OMIM	134797.0068	Disease	p.ARG2576CYS	MARFAN SYNDROME, AUTOSOMAL RECESSIVE
OMIM	134797.0047	Disease	p.ARG485CYS	MARFAN SYNDROME, AUTOSOMAL RECESSIVE
OMIM	134797.0063	Disease	p.ARG974CYS	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
OMIM	134797.0032	Disease	p.ARG1170HIS	MARFAN SYNDROME, SUBDIAGNOSTIC VARIANT OF
OMIM	134797.0001	Disease	p.ARG1137PRO	MARFAN SYNDROME, SEVERE CLASSIC
OMIM	134797.0017	Disease	p.ARG2776TER	MARFAN SYNDROME
OMIM	134797.0033	Disease	p.ARG529TER	MARFAN SYNDROME
OMIM	134797.0023	Disease	p.ARG2726TRP	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	134797.0010	Disease	p.ASN548ILE	MARFAN SYNDROME
OMIM	134797.0009	Disease	p.ASN2144SER	MARFAN SYNDROME
OMIM	134797.0028	Disease	p.ASN1131TYR	MARFAN SYNDROME, NEONATAL
OMIM	134797.0011	Disease	p.ASP723ALA	MARFAN SYNDROME
OMIM	134797.0016	Disease	p.CYS1074ARG	MARFAN SYNDROME, NEONATAL
OMIM	134797.0031	Disease	p.CYS1265ARG	MARFAN SYNDROME, CLASSIC
OMIM	134797.0006	Disease	p.CYS1663ARG	MARFAN SYNDROME
OMIM	134797.0053	Disease	p.CYS1577GLY	STIFF SKIN SYNDROME
OMIM	134797.0005	Disease	p.CYS1249SER	MARFAN SYNDROME
OMIM	134797.0052	Disease	p.CYS1564SER	STIFF SKIN SYNDROME
OMIM	134797.0007	Disease	p.CYS2221SER	MARFAN SYNDROME
OMIM	134797.0002	Disease	p.CYS2307SER	MARFAN SYNDROME, MILD VARIABLE
OMIM	134797.0043	Disease	p.CYS1032TYR	MARFAN SYNDROME, NEONATAL
OMIM	134797.0046	Disease	p.CYS1086TYR	MARFAN SYNDROME, NEONATAL
OMIM	134797.0025	Disease	p.CYS1117TYR	MARFAN SYNDROME
OMIM	134797.0044	Disease	p.CYS1129TYR	MARFAN SYNDROME
OMIM	134797.0045	Disease	p.CYS1221TYR	MARFAN SYNDROME
OMIM	134797.0022	Disease	p.CYS1223TYR	MARFAN SYNDROME
OMIM	134797.0026	Disease	p.CYS1242TYR	MARFAN SYNDROME
OMIM	134797.0038	Disease	p.GLU1073LYS	MARFAN SYNDROME, NEONATAL
OMIM	134797.0015	Disease	p.GLU2447LYS	ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
OMIM	134797.0036	Disease	p.GLY1013ARG	MARFAN SYNDROME
OMIM	134797.0054	Disease	p.GLY1594ASN	STIFF SKIN SYNDROME
OMIM	134797.0034	Disease	p.GLY985GLU	MARFAN SYNDROME, ATYPICAL
OMIM	134797.0021	Disease	p.GLY1127SER	MARFAN SYNDROME, MILD
OMIM	134797.0056	Disease	p.GLY1762SER	GELEOPHYSIC DYSPLASIA 2
OMIM	134797.0027	Disease	p.LYS1043ARG	MARFAN SYNDROME, NEONATAL
OMIM	134797.0059	Disease	p.SER1750ARG	ACROMICRIC DYSPLASIA
OMIM	134797.0058	Disease	p.TYR1696CYS	GELEOPHYSIC DYSPLASIA 2
OMIM	134797.0055	Disease	p.TYR1699CYS	GELEOPHYSIC DYSPLASIA 2\|\|ACROMICRIC DYSPLASIA, INCLUDED
OMIM	134797.0060	Disease	p.TYR1700CYS	ACROMICRIC DYSPLASIA
OMIM	134797.0041	Disease	p.TYR754CYS	MARFAN SYNDROME

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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