Results for the gene: COL7A1

Results for Proteins associated with the Gene: COL7A1

COL7A1

1294

Q02388 NP_000085

NCBI

Known Diseases associated with this Protein:

EPIDERMOLYSIS BULLOS

EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT (DDEB)

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE (RDEB)

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE,

EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA

EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE

EPIDERMOLYSIS BULLOSA DYSTROPHICA, HALLOPEAU-SIEMENS TYPE (HS-DEB)

EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE (P-DEB)

EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL TYPE (PR-DEB)

EPIDERMOLYSIS BULLOSA DYSTROPHICA, WITH SUBCORNEAL CLEAVAGE (EBDSC)

EPIDERMOLYSIS BULLOSA PRURIGINOSA (EBP)

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT

EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE

EPIDERMOLYSIS BULLOSA, PRETIBIAL

EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE

NAIL DISORDER, NON-SYNDROMIC CONGENITAL, 8 (NDNC8)

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED

NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED;;

TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN

TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN (TBDN)

VARIANT

			107 13 32 3 85

Tips:

The Domains on the Default View are decided by HMMER's search E-Value of the Protein against the Domain model.

Clicking a check box on the left will display or hide the corresponding domain(s).

To view the Protein page, either click on the protein links in the box to the left or the blue bar above the Protein's graphic.

Swiss-Prot Protein: Q02388

Identical to: NP_000085

Default View:

RefSeq Protein: NP_000085

Default View:

Domains found on the Proteins

Protein ↕	Domain ↕	Domain Accession ↕	Start ↕	End ↕	E-Value ↕
NP_000085	vWA_Matrilin	cd01475	35	260	5.8e-20
NP_000085	vWA_collagen_alpha_1	cd01480	35	203	1.3e-10
NP_000085	vWFA	cd00198	37	196	2.4e-36
NP_000085	vWFA_subfamily_ECM	cd01450	37	197	1.6e-61
NP_000085	vWA_norD_type	cd01454	37	194	3.5e-05
NP_000085	vWA_integrins_alpha_	cd01469	37	207	9.6e-26
NP_000085	vWA_collagen	cd01472	37	201	3.1e-82
NP_000085	vWA_collagen_alphaI-	cd01482	37	201	8.1e-109
NP_000085	vWA_collagen_alpha3-	cd01481	37	201	1.1e-31
NP_000085	VWA_integrin_inverte	cd01476	37	196	1.3e-08
NP_000085	vWA_micronemal_prote	cd01471	37	195	1.6e-10
NP_000085	FN3	cd00063	232	325	2.5e-19
NP_000085	FN3	cd00063	328	413	8.8e-14
NP_000085	FN3	cd00063	415	502	4e-10
NP_000085	FN3	cd00063	508	593	2.8e-10
NP_000085	FN3	cd00063	598	683	9.5e-14
NP_000085	FN3	cd00063	686	771	1.2e-18
NP_000085	FN3	cd00063	776	862	1.8e-09
NP_000085	FN3	cd00063	867	952	6e-16
NP_000085	FN3	cd00063	957	1046	6.5e-10
NP_000085	vWFA	cd00198	1053	1214	3.1e-06
NP_000085	vWFA_subfamily_ECM	cd01450	1053	1214	6.3e-24
NP_000085	vWA_collagen	cd01472	1053	1219	3.2e-07
NP_000085	KU	cd00109	2874	2930	6.7e-30
NP_000085	VWA	pfam00092	38	211	3e-58
NP_000085	fn3	pfam00041	233	318	1.8e-19
NP_000085	fn3	pfam00041	329	407	1.2e-08
NP_000085	fn3	pfam00041	416	495	8.2e-07
NP_000085	fn3	pfam00041	509	587	6.6e-07
NP_000085	fn3	pfam00041	599	677	2e-09
NP_000085	fn3	pfam00041	687	765	3e-13
NP_000085	fn3	pfam00041	777	853	6.4e-09
NP_000085	fn3	pfam00041	868	945	1.9e-11
NP_000085	VWA	pfam00092	1054	1229	6.8e-23
NP_000085	Collagen	pfam01391	1263	1322	1.6e-13
NP_000085	Collagen	pfam01391	1326	1391	4.4e-11
NP_000085	Collagen	pfam01391	1392	1450	4.3e-08
NP_000085	Collagen	pfam01391	1453	1512	1.7e-12
NP_000085	Collagen	pfam01391	1513	1580	7.1e-11
NP_000085	Collagen	pfam01391	1586	1645	1.3e-12
NP_000085	Collagen	pfam01391	1646	1705	1.6e-14
NP_000085	Collagen	pfam01391	1714	1772	3.5e-11
NP_000085	Collagen	pfam01391	1773	1832	2.2e-13
NP_000085	Collagen	pfam01391	1833	1892	2.8e-12
NP_000085	Collagen	pfam01391	1893	1942	1.7e-08
NP_000085	Collagen	pfam01391	1985	2045	1.7e-12
NP_000085	Collagen	pfam01391	2046	2113	2.2e-11
NP_000085	Collagen	pfam01391	2114	2173	5.9e-15
NP_000085	Collagen	pfam01391	2174	2232	4.1e-11
NP_000085	Collagen	pfam01391	2233	2292	5.4e-14
NP_000085	Collagen	pfam01391	2304	2365	3.7e-11
NP_000085	Collagen	pfam01391	2369	2430	1.1e-11
NP_000085	Collagen	pfam01391	2431	2489	1.8e-11
NP_000085	Collagen	pfam01391	2490	2553	2e-12
NP_000085	Collagen	pfam01391	2554	2613	3.7e-12
NP_000085	Collagen	pfam01391	2614	2673	3.9e-13
NP_000085	Collagen	pfam01391	2674	2733	1.4e-12
NP_000085	Collagen	pfam01391	2734	2789	3.4e-10
NP_000085	Kunitz_BPTI	pfam00014	2875	2930	7.2e-25
NP_000085	VWA	smart00327	36	216	3e-48
NP_000085	FN3	smart00060	232	316	2.2e-16
NP_000085	FN3	smart00060	327	404	2.4e-09
NP_000085	FN3	smart00060	415	493	1.6e-09
NP_000085	FN3	smart00060	508	584	4.8e-08
NP_000085	FN3	smart00060	598	674	2.9e-10
NP_000085	FN3	smart00060	686	764	5.9e-14
NP_000085	FN3	smart00060	776	853	1.2e-05
NP_000085	FN3	smart00060	864	943	3.1e-13
NP_000085	FN3	smart00060	955	1039	1.6e-10
NP_000085	VWA	smart00327	1052	1227	2.7e-18
NP_000085	KU	smart00131	2874	2929	1e-28

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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