Results for the protein: P35556

Results for the Protein: P35556

238054385

2201

FBN2

NCBI, UniProt

FBN2_HUMAN RecName: Full=Fibrillin-2; Flags: Precursor

Known Diseases associated with this Protein:
ARTHROGRYPOSIS, DISTAL, 9 (DA9)
CONTRACTURAL ARACHNODACTYLY, CONGENITAL

31

13

6

4

34

Tips:

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Default View: TB - pfam00683 EGF_CA - smart00179 EGF_CA - cd00054 EGF_CA - pfam07645 EGF - cd00053 EGF - smart00181 EGF - pfam00008	Swiss-Prot Protein: P35556 Identical to: NP_001990 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	1.1e-08	279	317
EGF_CA	cd00054	6e-14	318	359
EGF	cd00053	1.1e-08	321	359
EGF_CA	cd00054	1.7e-08	494	534
EGF	cd00053	2.5e-07	497	534
EGF_CA	cd00054	1.6e-15	535	574
EGF	cd00053	4.4e-11	538	574
EGF_CA	cd00054	5e-16	575	616
EGF	cd00053	1.3e-11	578	616
EGF_CA	cd00054	4.6e-15	617	657
EGF	cd00053	4.9e-12	620	657
EGF_CA	cd00054	3.9e-14	658	698
EGF	cd00053	2.3e-10	661	698
EGF_CA	cd00054	4.2e-15	768	809
EGF	cd00053	7.1e-11	771	809
EGF_CA	cd00054	3.2e-14	810	851
EGF	cd00053	5.3e-11	813	851
EGF_CA	cd00054	1.2e-12	852	891
EGF	cd00053	3.3e-08	855	891
EGF_CA	cd00054	1.2e-14	955	996
EGF	cd00053	9.9e-11	958	996
EGF_CA	cd00054	2.4e-13	1073	1114
EGF	cd00053	3.4e-08	1076	1114
EGF_CA	cd00054	5.1e-12	1115	1157
EGF	cd00053	7.4e-08	1118	1157
EGF_CA	cd00054	4.9e-16	1158	1199
EGF	cd00053	1.3e-09	1161	1199
EGF_CA	cd00054	5e-15	1200	1241
EGF	cd00053	9.8e-10	1203	1241
EGF_CA	cd00054	4.7e-11	1242	1282
EGF	cd00053	3.4e-08	1245	1282
EGF_CA	cd00054	6.4e-13	1283	1324
EGF	cd00053	1.7e-09	1286	1324
EGF_CA	cd00054	9e-10	1325	1366
EGF	cd00053	4.6e-07	1328	1366
EGF_CA	cd00054	1.7e-14	1367	1407
EGF	cd00053	1.4e-10	1370	1407
EGF_CA	cd00054	6.3e-15	1408	1448
EGF	cd00053	4.8e-12	1411	1448
EGF_CA	cd00054	1.1e-14	1449	1490
EGF	cd00053	6e-12	1452	1490
EGF_CA	cd00054	2.1e-12	1491	1531
EGF	cd00053	8.6e-08	1494	1531
EGF_CA	cd00054	5.4e-13	1532	1572
EGF	cd00053	1.6e-09	1535	1572
EGF_CA	cd00054	2.1e-17	1650	1691
EGF	cd00053	1.4e-11	1653	1691
EGF_CA	cd00054	4.4e-11	1692	1733
EGF	cd00053	2.3e-07	1695	1733
EGF_CA	cd00054	2.7e-14	1808	1849
EGF	cd00053	1.2e-09	1811	1849
EGF_CA	cd00054	1.7e-15	1850	1891
EGF	cd00053	3e-11	1853	1891
EGF_CA	cd00054	4.1e-13	1892	1933
EGF	cd00053	4.1e-10	1895	1933
EGF_CA	cd00054	2.8e-14	1934	1972
EGF	cd00053	1.3e-09	1937	1972
EGF_CA	cd00054	2.2e-16	1973	2015
EGF	cd00053	1.2e-10	1976	2015
EGF_CA	cd00054	5.5e-13	2016	2055
EGF	cd00053	6.8e-10	2019	2055
EGF_CA	cd00054	3.6e-16	2056	2097
EGF	cd00053	4.6e-11	2059	2097
EGF_CA	cd00054	2.3e-15	2171	2212
EGF	cd00053	1.6e-11	2174	2212
EGF_CA	cd00054	7.4e-13	2213	2252
EGF	cd00053	8.8e-10	2216	2252
EGF_CA	cd00054	2e-13	2253	2293
EGF	cd00053	9.4e-10	2256	2293
EGF_CA	cd00054	5.5e-11	2294	2337
EGF	cd00053	1.5e-07	2297	2337
EGF_CA	cd00054	7.3e-13	2338	2379
EGF	cd00053	1.7e-09	2341	2379
EGF_CA	cd00054	3.5e-15	2449	2490
EGF	cd00053	8.2e-11	2452	2490
EGF_CA	cd00054	4.9e-15	2491	2531
EGF	cd00053	2.2e-10	2494	2531
EGF_CA	cd00054	3.3e-12	2532	2570
EGF	cd00053	1e-08	2535	2570
EGF_CA	cd00054	8.4e-14	2571	2613
EGF	cd00053	5.4e-10	2574	2613
EGF_CA	cd00054	3.4e-08	2614	2653
EGF	cd00053	0.0002	2617	2653
EGF_CA	cd00054	2.9e-11	2654	2694
EGF	cd00053	1.2e-07	2657	2694
EGF_CA	cd00054	4.5e-10	2695	2734
EGF	cd00053	2.6e-05	2698	2734
TB	pfam00683	2.4e-17	223	265
TB	pfam00683	2.6e-19	373	416
EGF	pfam00008	3.8e-05	498	529
EGF	pfam00008	8.6e-06	539	570
EGF	pfam00008	1.6e-06	579	614
EGF	pfam00008	3.3e-07	621	655
EGF	pfam00008	3.9e-05	662	696
TB	pfam00683	7.7e-20	713	755
EGF	pfam00008	9.6e-05	772	807
EGF	pfam00008	8.1e-05	814	847
EGF	pfam00008	0.00016	856	889
TB	pfam00683	1.1e-16	905	945
EGF	pfam00008	0.00016	959	994
TB	pfam00683	5.4e-19	1010	1051
EGF	pfam00008	2.2e-05	1204	1237
EGF	pfam00008	4.3e-05	1371	1403
EGF	pfam00008	8.2e-07	1412	1444
EGF	pfam00008	1.2e-05	1453	1484
TB	pfam00683	4.4e-17	1591	1632
EGF	pfam00008	6.9e-05	1654	1687
TB	pfam00683	6.8e-22	1747	1790
EGF	pfam00008	0.00022	1896	1929
EGF	pfam00008	0.00064	1938	1967
EGF	pfam00008	0.00096	2020	2053
EGF	pfam00008	2.2e-07	2060	2095
TB	pfam00683	2.3e-19	2111	2154
EGF	pfam00008	2.2e-08	2175	2210
TB	pfam00683	3.9e-22	2393	2436
EGF	pfam00008	7.9e-06	2495	2529
EGF	pfam00008	0.00092	2536	2566
EGF	pfam00008	2.8e-05	2575	2611
EGF_CA	pfam07645	1.7e-09	276	316
EGF_CA	smart00179	3.6e-15	276	317
EGF	smart00181	1.6e-08	279	317
EGF_CA	pfam07645	2.9e-12	318	358
EGF_CA	smart00179	6.8e-15	318	359
EGF	smart00181	1.3e-09	321	359
EGF_CA	smart00179	0.00015	496	534
EGF	smart00181	3.9e-08	497	534
EGF_CA	pfam07645	5.6e-08	535	573
EGF_CA	smart00179	1.9e-16	535	574
EGF	smart00181	1.7e-10	538	574
EGF_CA	pfam07645	5.7e-11	575	615
EGF_CA	smart00179	1.8e-17	575	616
EGF	smart00181	5e-12	578	616
EGF_CA	pfam07645	3.1e-08	617	656
EGF_CA	smart00179	5.8e-16	617	657
EGF	smart00181	1.6e-11	620	657
EGF_CA	pfam07645	4.4e-11	658	697
EGF_CA	smart00179	1.3e-15	658	698
EGF	smart00181	7.5e-10	661	698
EGF_CA	pfam07645	5.3e-12	768	808
EGF_CA	smart00179	2e-16	768	809
EGF	smart00181	1.1e-10	771	809
EGF_CA	pfam07645	2.1e-09	810	850
EGF_CA	smart00179	2.9e-15	810	851
EGF	smart00181	1.6e-10	813	851
EGF_CA	pfam07645	7.6e-06	852	890
EGF_CA	smart00179	1.4e-13	852	891
EGF	smart00181	2.6e-08	855	891
EGF_CA	pfam07645	2.2e-07	955	995
EGF_CA	smart00179	1.1e-15	955	996
EGF	smart00181	2e-10	958	996
EGF_CA	pfam07645	3.9e-08	1073	1113
EGF_CA	smart00179	1.1e-14	1073	1114
EGF	smart00181	1.2e-07	1076	1114
EGF_CA	pfam07645	8e-09	1115	1156
EGF_CA	smart00179	3.1e-13	1115	1157
EGF	smart00181	1.8e-07	1118	1157
EGF_CA	pfam07645	1.4e-08	1158	1198
EGF_CA	smart00179	9.9e-16	1158	1199
EGF	smart00181	9.8e-10	1161	1199
EGF_CA	pfam07645	3.3e-10	1200	1240
EGF_CA	smart00179	8.9e-16	1200	1241
EGF	smart00181	5.6e-10	1203	1241
EGF_CA	pfam07645	4.3e-08	1242	1281
EGF_CA	smart00179	1.7e-12	1242	1282
EGF	smart00181	6.1e-09	1245	1282
EGF_CA	pfam07645	1.3e-06	1283	1323
EGF_CA	smart00179	2.6e-13	1283	1324
EGF	smart00181	1.3e-09	1286	1324
EGF_CA	pfam07645	6.1e-07	1325	1365
EGF_CA	smart00179	2.1e-10	1325	1366
EGF	smart00181	2.4e-06	1328	1366
EGF_CA	pfam07645	1.9e-13	1367	1406
EGF_CA	smart00179	2.6e-14	1367	1407
EGF	smart00181	3.3e-10	1370	1407
EGF_CA	pfam07645	6e-13	1408	1447
EGF_CA	smart00179	2.3e-14	1408	1448
EGF	smart00181	5.7e-12	1411	1448
EGF_CA	pfam07645	1.4e-06	1449	1489
EGF_CA	smart00179	1.3e-15	1449	1490
EGF	smart00181	3.2e-12	1452	1490
EGF_CA	pfam07645	3.1e-05	1491	1530
EGF_CA	smart00179	1.4e-13	1491	1531
EGF	smart00181	3.6e-08	1494	1531
EGF_CA	pfam07645	5.8e-06	1532	1571
EGF_CA	smart00179	2.6e-14	1532	1572
EGF	smart00181	1e-09	1535	1572
EGF_CA	pfam07645	6.7e-09	1650	1690
EGF_CA	smart00179	1.9e-17	1650	1691
EGF	smart00181	2.4e-11	1653	1691
EGF_CA	pfam07645	0.00036	1692	1732
EGF_CA	smart00179	4.7e-12	1692	1733
EGF	smart00181	4e-07	1695	1733
EGF_CA	pfam07645	1.6e-11	1808	1848
EGF_CA	smart00179	5.6e-15	1808	1849
EGF	smart00181	3.9e-10	1811	1849
EGF_CA	pfam07645	5.1e-11	1850	1890
EGF_CA	smart00179	3.1e-15	1850	1891
EGF	smart00181	4e-11	1853	1891
EGF_CA	pfam07645	4.9e-06	1892	1932
EGF_CA	smart00179	2.4e-14	1892	1933
EGF	smart00181	5.4e-11	1895	1933
EGF_CA	pfam07645	2.2e-08	1934	1971
EGF_CA	smart00179	3e-15	1934	1972
EGF	smart00181	1.9e-08	1937	1972
EGF_CA	pfam07645	8.6e-12	1973	2014
EGF_CA	smart00179	2.1e-17	1973	2015
EGF	smart00181	2.8e-11	1976	2015
EGF_CA	pfam07645	4.3e-10	2016	2054
EGF_CA	smart00179	6.2e-14	2016	2055
EGF	smart00181	8.8e-10	2019	2055
EGF_CA	pfam07645	5.5e-09	2056	2096
EGF_CA	smart00179	2.2e-17	2056	2097
EGF	smart00181	5.6e-11	2059	2097
EGF_CA	pfam07645	6.6e-08	2171	2211
EGF_CA	smart00179	5e-17	2171	2212
EGF	smart00181	3.3e-12	2174	2212
EGF_CA	pfam07645	2.3e-07	2213	2251
EGF_CA	smart00179	1.6e-12	2213	2252
EGF	smart00181	2.8e-09	2216	2252
EGF_CA	pfam07645	1.1e-08	2253	2292
EGF_CA	smart00179	5.8e-15	2253	2293
EGF	smart00181	5.9e-11	2256	2293
EGF_CA	pfam07645	4.9e-10	2294	2336
EGF_CA	smart00179	2.4e-12	2294	2337
EGF	smart00181	1.3e-08	2297	2337
EGF_CA	pfam07645	3.4e-08	2338	2378
EGF_CA	smart00179	1.6e-14	2338	2379
EGF	smart00181	1.7e-10	2341	2379
EGF_CA	pfam07645	1.4e-09	2449	2489
EGF_CA	smart00179	1.3e-16	2449	2490
EGF	smart00181	3.4e-11	2452	2490
EGF_CA	pfam07645	3.8e-13	2491	2530
EGF_CA	smart00179	2e-15	2491	2531
EGF	smart00181	5.2e-12	2494	2531
EGF_CA	pfam07645	1e-12	2532	2569
EGF_CA	smart00179	6.5e-14	2532	2570
EGF	smart00181	5.2e-09	2535	2570
EGF_CA	pfam07645	7.4e-07	2571	2612
EGF_CA	smart00179	5.7e-14	2571	2613
EGF	smart00181	1.7e-10	2574	2613
EGF_CA	pfam07645	0.00041	2614	2652
EGF_CA	smart00179	9e-11	2614	2653
EGF	smart00181	0.00016	2617	2653
EGF_CA	pfam07645	1.5e-05	2654	2693
EGF_CA	smart00179	7.1e-11	2654	2694
EGF	smart00181	1.4e-06	2657	2694
EGF_CA	pfam07645	9.2e-07	2695	2733
EGF_CA	smart00179	1.1e-10	2695	2734
EGF	smart00181	2.9e-05	2698	2734

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_054980	Polymorphism	p.ARG681HIS	N/A
Swiss-Prot	VAR_058365	Disease	p.ASN1091SER	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058374	Disease	p.ASP1408ASN	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_010739	Disease	p.ASP1115HIS	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058367	Disease	p.CYS1142ARG	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_054985	Disease	p.CYS1240ARG	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_054987	Disease	p.CYS1268ARG	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058375	Disease	p.CYS1425ARG	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_010740	Disease	p.CYS1142PHE	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058369	Disease	p.CYS1156PHE	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058371	Disease	p.CYS1246PHE	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058372	Disease	p.CYS1384PHE	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_002351	Disease	p.CYS1434SER	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_010741	Disease	p.CYS1253TRP	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_054986	Disease	p.CYS1257TRP	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_054984	Disease	p.CYS1198TYR	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_002350	Disease	p.CYS1253TYR	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058373	Disease	p.CYS1384TYR	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058370	Disease	p.GLU1161LYS	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_015851	Disease	p.GLU391LYS	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_064705	Polymorphism	p.GLU2062VAL	N/A
Swiss-Prot	VAR_054981	Disease	p.GLY1057ASP	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_054983	Disease	p.GLY1179CYS	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_058364	Disease	p.GLY754SER	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_054982	Disease	p.ILE1093THR	Arthrogryposis, distal, 9 (DA9)
dbSNP	rs117524265	Polymorphism	p.ILE243THR	N/A
Swiss-Prot	VAR_054990	Polymorphism	p.LEU2581SER	N/A
dbSNP	rs32209	Polymorphism	p.MET2311VAL	N/A
Swiss-Prot	VAR_054989	Polymorphism	p.PHE2266LEU	N/A
Swiss-Prot	VAR_016143	Polymorphism	p.PRO2428THR	N/A
dbSNP	rs2291628	Polymorphism	p.SER2580LEU	N/A
Swiss-Prot	VAR_058366	Disease	p.SER1122PRO	Arthrogryposis, distal, 9 (DA9)
Swiss-Prot	VAR_014664	Polymorphism	p.SER2771PRO	N/A
Swiss-Prot	VAR_055415	Polymorphism	p.THR2278MET	N/A
Swiss-Prot	VAR_054979	Polymorphism	p.THR594SER	N/A
Swiss-Prot	VAR_054988	Polymorphism	p.TRP1772GLY	N/A
Swiss-Prot	VAR_058368	Disease	p.TYR1146CYS	Arthrogryposis, distal, 9 (DA9)
dbSNP	rs154001	Polymorphism	p.VAL965ILE	N/A
OMIM	612570.0010	Disease	p.ASN1259LYS	CONTRACTURAL ARACHNODACTYLY, CONGENITAL
OMIM	612570.0007	Disease	p.ASP1114HIS	CONTRACTURAL ARACHNODACTYLY, CONGENITAL
OMIM	612570.0008	Disease	p.CYS1141PHE	CONTRACTURAL ARACHNODACTYLY, CONGENITAL
OMIM	612570.0009	Disease	p.CYS1252TRP	CONTRACTURAL ARACHNODACTYLY, CONGENITAL
OMIM	612570.0001	Disease	p.CYS1252TYR	CONTRACTURAL ARACHNODACTYLY, CONGENITAL
OMIM	612570.0002	Disease	p.GLU390LYS	CONTRACTURAL ARACHNODACTYLY, CONGENITAL

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258