Results for the gene: COL6A3

Results for Proteins associated with the Gene: COL6A3

COL6A3

1293

P12111 NP_476505 NP_476506 NP_476507 NP_476508 NP_004360

NCBI

Known Diseases associated with this Protein:

BETHLEM MYOPATHY

BETHLEM MYOPATHY (BM)

ULLRICH CONGENITAL MUSCULAR DYSTROPHY (UCMD)

ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE

			24 63 11 49 27

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: P12111

Identical to: NP_004360

Default View:

Default View: vWA_Matrilin - cd01475 VWA - smart00327 vWA_collagen_alpha3- - cd01481 vWA_collagen - cd01472 VWA_integrin_inverte - cd01476 vWFA - cd00198 vWFA_subfamily_ECM - cd01450 vWA_integrins_alpha_ - cd01469 vWA_collagen_alphaI- - cd01482 VWA - pfam00092 vWA_collagen_alpha_1 - cd01480 vWA_CTRP - cd01473 vWA_micronemal_prote - cd01471 vWA_ATR - cd01474	RefSeq Protein: NP_476505 Default View:

Default View: VWA - smart00327 vWA_collagen_alphaI- - cd01482 vWFA - cd00198 vWA_collagen_alpha_1 - cd01480 vWA_collagen_alpha3- - cd01481 vWFA_subfamily_ECM - cd01450 vWA_collagen - cd01472 VWA_integrin_inverte - cd01476 vWA_integrins_alpha_ - cd01469 VWA - pfam00092 vWA_Matrilin - cd01475 vWA_micronemal_prote - cd01471 vWA_CTRP - cd01473 vWA_ATR - cd01474	RefSeq Protein: NP_476506 Default View:

RefSeq Protein: NP_476507

Default View:

RefSeq Protein: NP_476508

Default View:

RefSeq Protein: NP_004360

Default View:

Domains found on the Proteins

Protein ↕	Domain ↕	Domain Accession ↕	Start ↕	End ↕	E-Value ↕
NP_004360	vWA_collagen_alpha_1	cd01480	36	215	3.5e-07
NP_004360	vWFA	cd00198	38	198	3.4e-30
NP_004360	vWFA_subfamily_ECM	cd01450	38	199	4e-60
NP_004360	vWA_integrins_alpha_	cd01469	38	209	2.8e-18
NP_004360	vWA_collagen	cd01472	38	203	7.1e-81
NP_004360	VWA_integrin_inverte	cd01476	38	198	4.5e-19
NP_004360	vWA_collagen_alpha3-	cd01481	38	203	4e-47
NP_004360	vWA_complement_facto	cd01470	38	211	0.00052
NP_004360	vWA_collagen_alphaI-	cd01482	38	203	3.3e-81
NP_004360	vWFA	cd00198	241	400	9.1e-26
NP_004360	vWFA_subfamily_ECM	cd01450	241	400	8e-45
NP_004360	vWA_integrins_alpha_	cd01469	241	411	8.7e-12
NP_004360	vWA_collagen	cd01472	241	405	1.4e-65
NP_004360	VWA_integrin_inverte	cd01476	241	402	5.2e-08
NP_004360	vWA_collagen_alpha_1	cd01480	241	421	1.1e-06
NP_004360	vWA_collagen_alpha3-	cd01481	241	405	3.5e-82
NP_004360	vWA_collagen_alphaI-	cd01482	241	405	2.6e-43
NP_004360	vWA_Matrilin	cd01475	442	638	4.1e-11
NP_004360	vWFA	cd00198	444	603	2.3e-21
NP_004360	vWFA_subfamily_ECM	cd01450	444	604	1.4e-56
NP_004360	vWA_integrins_alpha_	cd01469	444	616	9e-12
NP_004360	vWA_collagen	cd01472	444	608	8.7e-81
NP_004360	VWA_integrin_inverte	cd01476	444	605	2e-15
NP_004360	vWA_collagen_alpha3-	cd01481	444	608	4.7e-113
NP_004360	vWA_collagen_alphaI-	cd01482	445	608	2.1e-46
NP_004360	vWFA	cd00198	638	797	1.8e-30
NP_004360	vWFA_subfamily_ECM	cd01450	638	798	2.8e-60
NP_004360	vWA_integrins_alpha_	cd01469	638	808	6e-13
NP_004360	vWA_collagen	cd01472	638	802	1.6e-81
NP_004360	VWA_integrin_inverte	cd01476	638	800	6.4e-11
NP_004360	vWA_collagen_alpha3-	cd01481	638	802	9.1e-113
NP_004360	vWA_CTRP	cd01473	639	814	0.00041
NP_004360	vWA_Matrilin	cd01475	639	867	1.9e-12
NP_004360	vWA_micronemal_prote	cd01471	639	817	1.9e-10
NP_004360	vWA_collagen_alpha_1	cd01480	639	813	8.3e-07
NP_004360	vWA_collagen_alphaI-	cd01482	639	802	1.9e-46
NP_004360	vWFA	cd00198	836	993	6e-14
NP_004360	vWFA_subfamily_ECM	cd01450	836	994	1.9e-40
NP_004360	vWA_collagen	cd01472	836	999	1.8e-51
NP_004360	VWA_integrin_inverte	cd01476	836	996	1.3e-06
NP_004360	vWA_collagen_alpha3-	cd01481	836	999	7.5e-75
NP_004360	vWA_collagen_alphaI-	cd01482	837	999	2e-15
NP_004360	vWA_Matrilin	cd01475	1026	1228	1.2e-10
NP_004360	vWFA	cd00198	1028	1186	2.1e-21
NP_004360	vWFA_subfamily_ECM	cd01450	1028	1187	5.4e-48
NP_004360	vWA_integrins_alpha_	cd01469	1028	1197	9.8e-11
NP_004360	vWA_collagen	cd01472	1028	1191	1.8e-62
NP_004360	VWA_integrin_inverte	cd01476	1028	1182	5.2e-15
NP_004360	vWA_collagen_alpha3-	cd01481	1028	1191	1.2e-88
NP_004360	vWA_collagen_alpha_1	cd01480	1029	1202	3.3e-07
NP_004360	vWA_collagen_alphaI-	cd01482	1029	1194	4e-30
NP_004360	vWA_ATR	cd01474	1230	1416	0.00016
NP_004360	vWFA	cd00198	1232	1389	6.3e-26
NP_004360	vWFA_subfamily_ECM	cd01450	1232	1390	2.6e-54
NP_004360	vWA_integrins_alpha_	cd01469	1232	1400	5e-12
NP_004360	vWA_collagen	cd01472	1232	1394	1.4e-77
NP_004360	VWA_integrin_inverte	cd01476	1232	1391	2.5e-08
NP_004360	vWA_collagen_alpha3-	cd01481	1232	1394	2.9e-109
NP_004360	vWA_collagen_alpha_1	cd01480	1233	1405	2.3e-07
NP_004360	vWA_collagen_alphaI-	cd01482	1233	1394	2.2e-32
NP_004360	vWA_Matrilin	cd01475	1433	1670	7.6e-13
NP_004360	vWFA	cd00198	1435	1594	1.1e-22
NP_004360	vWFA_subfamily_ECM	cd01450	1435	1595	7.3e-54
NP_004360	vWA_integrins_alpha_	cd01469	1435	1605	3e-13
NP_004360	vWA_collagen	cd01472	1435	1599	3.9e-81
NP_004360	VWA_integrin_inverte	cd01476	1435	1596	1.4e-19
NP_004360	vWA_collagen_alpha3-	cd01481	1435	1599	3.5e-114
NP_004360	vWA_collagen_alphaI-	cd01482	1435	1599	2.7e-39
NP_004360	vWFA	cd00198	1638	1797	9.4e-19
NP_004360	vWFA_subfamily_ECM	cd01450	1638	1797	6.5e-39
NP_004360	vWA_integrins_alpha_	cd01469	1638	1808	3.2e-11
NP_004360	vWA_collagen	cd01472	1638	1805	1.4e-41
NP_004360	vWA_collagen_alpha3-	cd01481	1638	1802	7.4e-33
NP_004360	vWA_collagen_alphaI-	cd01482	1638	1805	4.2e-32
NP_004360	vWFA	cd00198	2401	2567	0.0001
NP_004360	vWFA_subfamily_ECM	cd01450	2401	2566	2.9e-22
NP_004360	vWFA	cd00198	2618	2795	0.00018
NP_004360	vWFA_subfamily_ECM	cd01450	2618	2808	1.5e-28
NP_004360	KU	cd00109	3110	3163	3.1e-29
NP_004360	VWA	pfam00092	39	213	2.1e-60
NP_004360	VWA	pfam00092	242	415	6.1e-51
NP_004360	VWA	pfam00092	445	620	1.1e-53
NP_004360	VWA	pfam00092	639	812	3.9e-58
NP_004360	VWA	pfam00092	837	1009	5e-43
NP_004360	VWA	pfam00092	1029	1201	5.1e-53
NP_004360	VWA	pfam00092	1233	1404	4.7e-54
NP_004360	VWA	pfam00092	1436	1609	8.6e-57
NP_004360	VWA	pfam00092	1639	1812	1.3e-45
NP_004360	Collagen	pfam01391	2038	2097	2.2e-12
NP_004360	Collagen	pfam01391	2104	2163	7e-13
NP_004360	Collagen	pfam01391	2180	2239	9.2e-11
NP_004360	Collagen	pfam01391	2249	2313	5.6e-10
NP_004360	Collagen	pfam01391	2314	2373	5.2e-13
NP_004360	VWA	pfam00092	2402	2581	3.2e-21
NP_004360	VWA	pfam00092	2619	2810	5.4e-31
NP_004360	Kunitz_BPTI	pfam00014	3111	3163	3.4e-28
NP_004360	VWA	smart00327	37	211	8.7e-45
NP_004360	VWA	smart00327	240	416	1.6e-36
NP_004360	VWA	smart00327	443	618	7.3e-43
NP_004360	VWA	smart00327	637	813	1.5e-49
NP_004360	VWA	smart00327	835	1011	1.8e-35
NP_004360	VWA	smart00327	1027	1202	8.6e-41
NP_004360	VWA	smart00327	1231	1409	2.9e-44
NP_004360	VWA	smart00327	1434	1607	3.4e-44
NP_004360	VWA	smart00327	1637	1810	3.9e-37
NP_004360	VWA	smart00327	1836	2025	0.0002
NP_004360	VWA	smart00327	2400	2579	6.7e-23
NP_004360	VWA	smart00327	2617	2809	2.4e-20
NP_004360	KU	smart00131	3110	3162	2e-27

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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