Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWFA_subfamily_ECM	cd01450	8e-45	35	194
vWA_integrins_alpha_	cd01469	8.7e-12	35	205
vWA_collagen	cd01472	1.4e-65	35	199
VWA_integrin_inverte	cd01476	5.2e-08	35	196
vWA_collagen_alpha3-	cd01481	3.5e-82	35	199
vWA_collagen_alpha_1	cd01480	1.1e-06	35	215
vWA_collagen_alphaI-	cd01482	2.6e-43	35	199
vWA_Matrilin	cd01475	4.1e-11	236	432
vWFA	cd00198	2.3e-21	238	397
vWFA_subfamily_ECM	cd01450	1.4e-56	238	398
vWA_integrins_alpha_	cd01469	9e-12	238	410
vWA_collagen	cd01472	8.7e-81	238	402
VWA_integrin_inverte	cd01476	2e-15	238	399
vWA_collagen_alpha3-	cd01481	4.7e-113	238	402
vWA_collagen_alphaI-	cd01482	2.1e-46	239	402
vWFA	cd00198	1.8e-30	432	591
vWFA_subfamily_ECM	cd01450	2.8e-60	432	592
vWA_integrins_alpha_	cd01469	6e-13	432	602
vWA_collagen	cd01472	1.6e-81	432	596
VWA_integrin_inverte	cd01476	6.4e-11	432	594
vWA_collagen_alpha3-	cd01481	9.1e-113	432	596
vWA_micronemal_prote	cd01471	1.9e-10	433	611
vWA_CTRP	cd01473	0.00041	433	608
vWA_Matrilin	cd01475	1.9e-12	433	661
vWA_collagen_alpha_1	cd01480	8.3e-07	433	607
vWA_collagen_alphaI-	cd01482	1.9e-46	433	596
vWFA	cd00198	6e-14	630	787
vWFA_subfamily_ECM	cd01450	1.9e-40	630	788
vWA_collagen	cd01472	1.8e-51	630	793
VWA_integrin_inverte	cd01476	1.3e-06	630	790
vWA_collagen_alpha3-	cd01481	7.5e-75	630	793
vWA_collagen_alphaI-	cd01482	2e-15	631	793
vWA_Matrilin	cd01475	1.2e-10	820	1022
vWFA	cd00198	2.1e-21	822	980
vWFA_subfamily_ECM	cd01450	5.4e-48	822	981
vWA_integrins_alpha_	cd01469	9.8e-11	822	991
vWA_collagen	cd01472	1.8e-62	822	985
VWA_integrin_inverte	cd01476	5.2e-15	822	976
vWA_collagen_alpha3-	cd01481	1.2e-88	822	985
vWA_collagen_alpha_1	cd01480	3.3e-07	823	996
vWA_collagen_alphaI-	cd01482	4e-30	823	988
vWA_ATR	cd01474	0.00016	1024	1210
vWFA	cd00198	6.3e-26	1026	1183
vWFA_subfamily_ECM	cd01450	2.6e-54	1026	1184
vWA_integrins_alpha_	cd01469	5e-12	1026	1194
vWA_collagen	cd01472	1.4e-77	1026	1188
VWA_integrin_inverte	cd01476	2.5e-08	1026	1185
vWA_collagen_alpha3-	cd01481	2.9e-109	1026	1188
vWA_collagen_alpha_1	cd01480	2.3e-07	1027	1199
vWA_collagen_alphaI-	cd01482	2.2e-32	1027	1188
vWA_Matrilin	cd01475	7.6e-13	1227	1464
vWFA	cd00198	1.1e-22	1229	1388
vWFA_subfamily_ECM	cd01450	7.3e-54	1229	1389
vWA_integrins_alpha_	cd01469	3e-13	1229	1399
vWA_collagen	cd01472	3.9e-81	1229	1393
VWA_integrin_inverte	cd01476	1.4e-19	1229	1390
vWA_collagen_alpha3-	cd01481	3.5e-114	1229	1393
vWA_collagen_alphaI-	cd01482	2.7e-39	1229	1393
vWFA	cd00198	9.4e-19	1432	1591
vWFA_subfamily_ECM	cd01450	6.5e-39	1432	1591
vWA_integrins_alpha_	cd01469	3.2e-11	1432	1602
vWA_collagen	cd01472	1.4e-41	1432	1599
vWA_collagen_alpha3-	cd01481	7.4e-33	1432	1596
vWA_collagen_alphaI-	cd01482	4.2e-32	1432	1599
vWFA	cd00198	0.0001	2195	2361
vWFA_subfamily_ECM	cd01450	2.9e-22	2195	2360
vWFA	cd00198	0.00018	2412	2589
vWFA_subfamily_ECM	cd01450	1.5e-28	2412	2602
KU	cd00109	3.1e-29	2904	2957
VWA	pfam00092	6.1e-51	36	209
VWA	pfam00092	1.1e-53	239	414
VWA	pfam00092	3.9e-58	433	606
VWA	pfam00092	5e-43	631	803
VWA	pfam00092	5.1e-53	823	995
VWA	pfam00092	4.7e-54	1027	1198
VWA	pfam00092	8.6e-57	1230	1403
VWA	pfam00092	1.3e-45	1433	1606
Collagen	pfam01391	2.2e-12	1832	1891
Collagen	pfam01391	7e-13	1898	1957
Collagen	pfam01391	9.2e-11	1974	2033
Collagen	pfam01391	5.6e-10	2043	2107
Collagen	pfam01391	5.2e-13	2108	2167
VWA	pfam00092	3.2e-21	2196	2375
VWA	pfam00092	5.4e-31	2413	2604
Kunitz_BPTI	pfam00014	3.4e-28	2905	2957
VWA	smart00327	1.6e-36	34	210
VWA	smart00327	7.3e-43	237	412
VWA	smart00327	1.5e-49	431	607
VWA	smart00327	1.8e-35	629	805
VWA	smart00327	8.6e-41	821	996
VWA	smart00327	2.9e-44	1025	1203
VWA	smart00327	3.4e-44	1228	1401
VWA	smart00327	3.9e-37	1431	1604
VWA	smart00327	0.0002	1630	1819
VWA	smart00327	6.7e-23	2194	2373
VWA	smart00327	2.4e-20	2411	2603
KU	smart00131	2e-27	2904	2956

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2270669	Polymorphism	p.ALA2806PRO	N/A
dbSNP	rs34934127	Polymorphism	p.ALA390SER	N/A
dbSNP	rs77181645	Polymorphism	p.ALA624SER	N/A
dbSNP	rs113155945	Polymorphism	p.ALA601THR	N/A
dbSNP	rs11903206	Polymorphism	p.ALA2735VAL	N/A
dbSNP	rs80272723	Polymorphism	p.ARG1189GLN	N/A
dbSNP	rs36092870	Polymorphism	p.ARG453HIS	N/A
dbSNP	rs35848091	Polymorphism	p.ASN2599SER	N/A
dbSNP	rs36104025	Polymorphism	p.ASP2625HIS	N/A
dbSNP	rs11896521	Polymorphism	p.LYS882GLN	N/A
dbSNP	rs6728818	Polymorphism	p.MET2721THR	N/A
dbSNP	rs11690358	Polymorphism	p.MET2782VAL	N/A
dbSNP	rs36117715	Polymorphism	p.PRO2012LEU	N/A
dbSNP	rs1131296	Polymorphism	p.THR2863ILE	N/A
OMIM	120250.0003	Disease	p.ARG259TER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM	120250.0001	Disease	p.GLY1473GLU	BETHLEM MYOPATHY
OMIM	120250.0006	Disease	p.LEU1520ARG	BETHLEM MYOPATHY

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