Results for the protein: Q14767

Results for the Protein: Q14767

296439311

4053

LTBP2

NCBI, UniProt

LTBP2_HUMAN RecName: Full=Latent-transforming growth factor beta-binding protein 2; Short=LTBP-2; Flags: Precursor

Known Diseases associated with this Protein:
  GLAUCOMA 3, PRIMARY CONGENITAL, D
  MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH
  OR WITHOUT SECON
  OR WITHOUT SECONDARY GLAUCOMA
  WEILL-MARCHESANI SYNDROME 3
  WEILL-MARCHESANI SYNDROME 3 (WMS3)

6

4

5

2

3

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: EGF_2 - pfam07974 TB - pfam00683 EGF_CA - smart00179 EGF_CA - cd00054 EGF_CA - pfam07645 EGF - cd00053 EGF - smart00181 EGF - pfam00008	Swiss-Prot Protein: Q14767 Identical to: NP_000419 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF	cd00053	9.3e-10	625	662
EGF_CA	cd00054	1.2e-10	844	886
EGF	cd00053	7.3e-09	847	886
EGF_CA	cd00054	2.3e-12	887	929
EGF	cd00053	4.8e-08	890	929
EGF_CA	cd00054	1e-14	930	969
EGF	cd00053	2.8e-09	933	969
EGF_CA	cd00054	3.8e-12	970	1009
EGF	cd00053	1.3e-07	973	1009
EGF_CA	cd00054	1.6e-14	1010	1050
EGF	cd00053	1.4e-09	1013	1050
EGF_CA	cd00054	9.7e-12	1051	1092
EGF	cd00053	1.2e-05	1054	1092
EGF_CA	cd00054	1.8e-11	1093	1134
EGF	cd00053	1.7e-05	1096	1134
EGF_CA	cd00054	4.4e-16	1135	1175
EGF	cd00053	5e-11	1138	1175
EGF_CA	cd00054	3.9e-11	1176	1217
EGF	cd00053	1e-07	1179	1217
EGF_CA	cd00054	3.6e-13	1218	1258
EGF	cd00053	2.9e-08	1221	1258
EGF_CA	cd00054	4e-10	1259	1302
EGF	cd00053	0.00072	1262	1302
EGF_CA	cd00054	5.4e-11	1303	1344
EGF	cd00053	3.1e-08	1306	1344
EGF_CA	cd00054	4.3e-06	1345	1387
EGF_CA	cd00054	1.1e-12	1485	1527
EGF	cd00053	7.7e-10	1488	1527
EGF_CA	cd00054	4.7e-10	1528	1567
EGF	cd00053	4.6e-07	1531	1567
EGF_CA	cd00054	0.00017	1733	1773
EGF	cd00053	2.6e-07	1736	1773
EGF_CA	cd00054	4.2e-10	1774	1818
EGF	cd00053	9e-06	1777	1818
TB	pfam00683	0.0002	561	606
TB	pfam00683	1.8e-17	681	723
EGF	pfam00008	4.8e-07	891	925
EGF	pfam00008	0.0001	934	964
EGF	pfam00008	7.6e-05	1139	1170
TB	pfam00683	2.1e-12	1421	1462
EGF	pfam00008	0.00011	1532	1565
TB	pfam00683	3.2e-11	1593	1635
EGF	pfam00008	1.6e-05	1737	1769
EGF_2	pfam07974	2.2e-05	191	218
EGF_CA	pfam07645	2.6e-08	622	661
EGF_CA	smart00179	7.5e-15	622	662
EGF	smart00181	5.2e-09	625	662
EGF_CA	smart00179	7.4e-10	844	886
EGF	smart00181	3.8e-09	847	886
EGF_CA	smart00179	3.3e-13	887	927
EGF	smart00181	1.1e-06	890	929
EGF_CA	pfam07645	4.1e-10	930	968
EGF_CA	smart00179	7.8e-15	930	969
EGF	smart00181	1.8e-08	933	969
EGF_CA	pfam07645	2.3e-10	970	1008
EGF_CA	smart00179	5e-11	970	1009
EGF	smart00181	3.3e-08	973	1009
EGF_CA	pfam07645	1.4e-12	1010	1049
EGF_CA	smart00179	1.3e-15	1010	1050
EGF	smart00181	5.9e-10	1013	1050
EGF_CA	pfam07645	3.6e-16	1051	1091
EGF_CA	smart00179	1.3e-12	1051	1092
EGF	smart00181	6.2e-07	1054	1092
EGF_CA	pfam07645	2.6e-14	1093	1133
EGF_CA	smart00179	9.4e-12	1093	1134
EGF	smart00181	1.4e-06	1096	1134
EGF_CA	pfam07645	1.5e-13	1135	1174
EGF_CA	smart00179	1.5e-16	1135	1175
EGF	smart00181	7.2e-10	1138	1175
EGF_CA	pfam07645	4e-08	1176	1216
EGF_CA	smart00179	8e-12	1176	1217
EGF	smart00181	1.7e-06	1179	1217
EGF_CA	pfam07645	9.6e-14	1218	1257
EGF_CA	smart00179	2e-13	1218	1258
EGF	smart00181	7.3e-07	1221	1258
EGF_CA	pfam07645	6.3e-07	1259	1301
EGF_CA	smart00179	4.3e-10	1259	1302
EGF_CA	pfam07645	3.4e-09	1303	1343
EGF_CA	smart00179	3.4e-12	1303	1344
EGF	smart00181	1.9e-07	1306	1344
EGF_CA	pfam07645	3.9e-06	1345	1386
EGF_CA	smart00179	3.8e-06	1345	1387
EGF_CA	smart00179	1.3e-13	1485	1527
EGF	smart00181	6.7e-10	1488	1527
EGF_CA	smart00179	1.1e-10	1528	1567
EGF	smart00181	1.4e-06	1531	1567
EGF_CA	smart00179	0.00026	1733	1773
EGF	smart00181	2.1e-07	1736	1773
EGF_CA	pfam07645	5.2e-06	1774	1817
EGF_CA	smart00179	5.8e-11	1774	1818
EGF	smart00181	9e-06	1777	1818

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_059270	Polymorphism	p.ARG37MET	N/A
dbSNP	rs61505039	Polymorphism	p.GLY1088SER	N/A
dbSNP	rs2304707	Polymorphism	p.PRO319GLN	N/A
Swiss-Prot	VAR_060337	Polymorphism	p.PRO591SER	N/A
Swiss-Prot	VAR_068647	Disease	p.VAL1177MET	Weill-Marchesani syndrome 3 (WMS3)
OMIM	602091.0001	Disease	p.ARG299TER	GLAUCOMA 3, PRIMARY CONGENITAL, D\|\|MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH\|\|OR WITHOUT SECON
OMIM	602091.0011	Disease	p.CYS1438TYR	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH\|\|OR WITHOUT SECONDARY GLAUCOMA
OMIM	602091.0004	Disease	p.GLN111TER	GLAUCOMA 3, PRIMARY CONGENITAL, D
OMIM	602091.0010	Disease	p.GLN1619TER	MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH\|\|OR WITHOUT SECONDARY GLAUCOMA
OMIM	602091.0012	Disease	p.VAL1177MET	WEILL-MARCHESANI SYNDROME 3

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