Results for the protein: NP

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
vWFA	cd00198	2.3e-21	37	196
vWFA_subfamily_ECM	cd01450	1.4e-56	37	197
vWA_integrins_alpha_	cd01469	9e-12	37	209
vWA_collagen	cd01472	8.7e-81	37	201
vWA_collagen_alpha3-	cd01481	4.7e-113	37	201
VWA_integrin_inverte	cd01476	2e-15	37	198
vWA_collagen_alphaI-	cd01482	2.1e-46	38	201
vWFA	cd00198	6e-14	229	386
vWFA_subfamily_ECM	cd01450	1.9e-40	229	387
vWA_collagen	cd01472	1.8e-51	229	392
vWA_collagen_alpha3-	cd01481	7.5e-75	229	392
VWA_integrin_inverte	cd01476	1.3e-06	229	389
vWA_collagen_alphaI-	cd01482	2e-15	230	392
vWA_Matrilin	cd01475	1.2e-10	419	621
vWFA	cd00198	2.1e-21	421	579
vWFA_subfamily_ECM	cd01450	5.4e-48	421	580
vWA_integrins_alpha_	cd01469	9.8e-11	421	590
vWA_collagen	cd01472	1.8e-62	421	584
vWA_collagen_alpha3-	cd01481	1.2e-88	421	584
VWA_integrin_inverte	cd01476	5.2e-15	421	575
vWA_collagen_alpha_1	cd01480	3.3e-07	422	595
vWA_collagen_alphaI-	cd01482	4e-30	422	587
vWA_ATR	cd01474	0.00016	623	809
vWFA	cd00198	6.3e-26	625	782
vWFA_subfamily_ECM	cd01450	2.6e-54	625	783
vWA_integrins_alpha_	cd01469	5e-12	625	793
vWA_collagen	cd01472	1.4e-77	625	787
vWA_collagen_alpha3-	cd01481	2.9e-109	625	787
VWA_integrin_inverte	cd01476	2.5e-08	625	784
vWA_collagen_alpha_1	cd01480	2.3e-07	626	798
vWA_collagen_alphaI-	cd01482	2.2e-32	626	787
vWA_Matrilin	cd01475	7.6e-13	826	1063
vWFA	cd00198	1.1e-22	828	987
vWFA_subfamily_ECM	cd01450	7.3e-54	828	988
vWA_integrins_alpha_	cd01469	3e-13	828	998
vWA_micronemal_prote	cd01471	2.7e-07	828	985
vWA_collagen	cd01472	3.9e-81	828	992
vWA_collagen_alpha3-	cd01481	3.5e-114	828	992
vWA_collagen_alphaI-	cd01482	2.7e-39	828	992
VWA_integrin_inverte	cd01476	1.4e-19	828	989
vWFA	cd00198	9.4e-19	1031	1190
vWFA_subfamily_ECM	cd01450	6.5e-39	1031	1190
vWA_integrins_alpha_	cd01469	3.2e-11	1031	1201
vWA_collagen	cd01472	1.4e-41	1031	1198
vWA_collagen_alpha3-	cd01481	7.4e-33	1031	1195
vWA_collagen_alphaI-	cd01482	4.2e-32	1031	1198
vWFA	cd00198	0.0001	1794	1960
vWFA_subfamily_ECM	cd01450	2.9e-22	1794	1959
vWFA	cd00198	0.00018	2011	2188
vWFA_subfamily_ECM	cd01450	1.5e-28	2011	2201
KU	cd00109	3.1e-29	2503	2556
VWA	pfam00092	1.1e-53	38	213
VWA	pfam00092	5e-43	230	402
VWA	pfam00092	5.1e-53	422	594
VWA	pfam00092	4.7e-54	626	797
VWA	pfam00092	8.6e-57	829	1002
VWA	pfam00092	1.3e-45	1032	1205
Collagen	pfam01391	2.2e-12	1431	1490
Collagen	pfam01391	7e-13	1497	1556
Collagen	pfam01391	9.2e-11	1573	1632
Collagen	pfam01391	5.6e-10	1642	1706
Collagen	pfam01391	5.2e-13	1707	1766
VWA	pfam00092	3.2e-21	1795	1974
VWA	pfam00092	5.4e-31	2012	2203
Kunitz_BPTI	pfam00014	3.4e-28	2504	2556
VWA	smart00327	7.3e-43	36	211
VWA	smart00327	1.8e-35	228	404
VWA	smart00327	8.6e-41	420	595
VWA	smart00327	2.9e-44	624	802
VWA	smart00327	3.4e-44	827	1000
VWA	smart00327	3.9e-37	1030	1203
VWA	smart00327	0.0002	1229	1418
VWA	smart00327	6.7e-23	1793	1972
VWA	smart00327	2.4e-20	2010	2202
KU	smart00131	2e-27	2503	2555

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2270669	Polymorphism	p.ALA2405PRO	N/A
dbSNP	rs34934127	Polymorphism	p.ALA189SER	N/A
dbSNP	rs11903206	Polymorphism	p.ALA2334VAL	N/A
dbSNP	rs80272723	Polymorphism	p.ARG788GLN	N/A
dbSNP	rs35848091	Polymorphism	p.ASN2198SER	N/A
dbSNP	rs36104025	Polymorphism	p.ASP2224HIS	N/A
dbSNP	rs11896521	Polymorphism	p.LYS481GLN	N/A
dbSNP	rs6728818	Polymorphism	p.MET2320THR	N/A
dbSNP	rs11690358	Polymorphism	p.MET2381VAL	N/A
dbSNP	rs36117715	Polymorphism	p.PRO1611LEU	N/A
dbSNP	rs1131296	Polymorphism	p.THR2462ILE	N/A
OMIM	120250.0003	Disease	p.ARG58TER	ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE
OMIM	120250.0001	Disease	p.GLY1072GLU	BETHLEM MYOPATHY
OMIM	120250.0006	Disease	p.LEU1119ARG	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.

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