Results for the protein: P02452

Results for the Protein: P02452

296439504

1277

COL1A1

NCBI, UniProt

CO1A1_HUMAN RecName: Full=Collagen alpha-1(I) chain; AltName: Full=Alpha-1 type I collagen; Flags: Precursor

Known Diseases associated with this Protein:
  CAFFEY DISEASE (CAFFD)
  EHLERS-DANLOS SYNDROME 1 (EDS1)
  OSTEOGENESIS IMPERFECTA 1 (OI1)
  OSTEOGENESIS IMPERFECTA 2 (OI2)
  OSTEOGENESIS IMPERFECTA 3 (OI3)
  OSTEOGENESIS IMPERFECTA 4 (OI4)

129

29

0

0

158

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: VWC - smart00214 VWC - pfam00093 Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	Swiss-Prot Protein: P02452 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	1.3e-09	108	165
Collagen	pfam01391	1.1e-12	177	235
Collagen	pfam01391	5e-20	236	295
Collagen	pfam01391	9.2e-17	296	355
Collagen	pfam01391	9e-16	356	415
Collagen	pfam01391	1.3e-15	416	475
Collagen	pfam01391	1.9e-16	476	535
Collagen	pfam01391	1.2e-16	536	595
Collagen	pfam01391	6.5e-16	596	655
Collagen	pfam01391	1.9e-15	656	715
Collagen	pfam01391	2.4e-18	716	775
Collagen	pfam01391	8.4e-18	779	838
Collagen	pfam01391	2.1e-15	839	898
Collagen	pfam01391	5.6e-15	899	958
Collagen	pfam01391	2.7e-16	959	1018
Collagen	pfam01391	2.3e-15	1019	1078
Collagen	pfam01391	9e-20	1079	1138
Collagen	pfam01391	3.8e-11	1139	1197
COLFI	pfam01410	1e-162	1245	1463
VWC	smart00214	2.7e-20	40	95
COLFI	smart00038	2.5e-171	1228	1464

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_063308	Polymorphism	p.ALA390THR	N/A
Swiss-Prot	VAR_033097	Disease	p.ARG1014CYS	Caffey disease (CAFFD)
Swiss-Prot	VAR_063335	Polymorphism	p.ARG1066CYS	N/A
Swiss-Prot	VAR_063336	Polymorphism	p.ARG1093CYS	N/A
Swiss-Prot	VAR_013579	Disease	p.ARG312CYS	Ehlers-Danlos syndrome 1 (EDS1)
Swiss-Prot	VAR_063314	Polymorphism	p.ARG574CYS	N/A
Swiss-Prot	VAR_033778	Polymorphism	p.ARG1141GLN	N/A
Swiss-Prot	VAR_063340	Polymorphism	p.ARG1356HIS	N/A
Swiss-Prot	VAR_001671	Polymorphism	p.ARG564HIS	N/A
Swiss-Prot	VAR_063326	Polymorphism	p.ASN855HIS	N/A
Swiss-Prot	VAR_066385	Polymorphism	p.ASP1219ASN	N/A
Swiss-Prot	VAR_063341	Disease	p.ASP1413ASN	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063339	Disease	p.ASP1219GLU	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001732	Disease	p.ASP1277HIS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_030015	Polymorphism	p.GLN1391LYS	N/A
Swiss-Prot	VAR_063300	Polymorphism	p.GLU288LYS	N/A
Swiss-Prot	VAR_063301	Polymorphism	p.GLU288VAL	N/A
Swiss-Prot	VAR_030013	Polymorphism	p.GLY1019ALA	N/A
Swiss-Prot	VAR_001716	Disease	p.GLY1088ALA	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001719	Disease	p.GLY1106ALA	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001657	Disease	p.GLY398ALA	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063312	Disease	p.GLY548ALA	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001704	Disease	p.GLY1025ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001724	Disease	p.GLY1154ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063292	Disease	p.GLY194ARG	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063293	Disease	p.GLY197ARG	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063290	Disease	p.GLY22ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063297	Disease	p.GLY257ARG	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001646	Disease	p.GLY263ARG	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001650	Disease	p.GLY332ARG	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001651	Disease	p.GLY350ARG	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001656	Disease	p.GLY389ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001664	Disease	p.GLY476ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001670	Disease	p.GLY560ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001672	Disease	p.GLY569ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063315	Disease	p.GLY581ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063316	Disease	p.GLY602ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063318	Disease	p.GLY614ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001681	Disease	p.GLY728ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063323	Disease	p.GLY740ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063324	Disease	p.GLY824ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001693	Disease	p.GLY842ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001694	Disease	p.GLY845ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063342	Disease	p.GLY848ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063334	Disease	p.GLY1055ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001710	Disease	p.GLY1061ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001718	Disease	p.GLY1100ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063338	Disease	p.GLY1157ASP	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001726	Disease	p.GLY1172ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063296	Polymorphism	p.GLY242ASP	N/A
Swiss-Prot	VAR_001649	Disease	p.GLY275ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063305	Disease	p.GLY353ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001658	Disease	p.GLY398ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063309	Disease	p.GLY455ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001667	Disease	p.GLY533ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063317	Disease	p.GLY605ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001679	Disease	p.GLY719ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001682	Disease	p.GLY737ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063325	Disease	p.GLY833ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001695	Disease	p.GLY851ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063328	Disease	p.GLY896ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063331	Disease	p.GLY977ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063332	Disease	p.GLY1001CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001715	Disease	p.GLY1082CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001720	Disease	p.GLY1124CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001725	Disease	p.GLY1166CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001731	Disease	p.GLY1195CYS	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001642	Polymorphism	p.GLY197CYS	N/A
Swiss-Prot	VAR_001644	Disease	p.GLY221CYS	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001645	Disease	p.GLY224CYS	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001648	Disease	p.GLY272CYS	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063303	Disease	p.GLY338CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001652	Disease	p.GLY353CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001653	Disease	p.GLY356CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001654	Disease	p.GLY383CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001655	Polymorphism	p.GLY389CYS	N/A
Swiss-Prot	VAR_001659	Disease	p.GLY401CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001660	Polymorphism	p.GLY404CYS	N/A
Swiss-Prot	VAR_001661	Disease	p.GLY422CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001665	Disease	p.GLY527CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001669	Disease	p.GLY560CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001673	Disease	p.GLY593CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001677	Disease	p.GLY701CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001678	Disease	p.GLY704CYS	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001696	Disease	p.GLY869CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001698	Disease	p.GLY896CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001699	Disease	p.GLY926CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063330	Disease	p.GLY947CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063298	Disease	p.GLY266GLU	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001701	Disease	p.GLY1010SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001702	Disease	p.GLY1022SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001705	Disease	p.GLY1040SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001706	Disease	p.GLY1043SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001708	Disease	p.GLY1049SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001709	Disease	p.GLY1058SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001711	Disease	p.GLY1061SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001713	Disease	p.GLY1076SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001714	Disease	p.GLY1079SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001717	Disease	p.GLY1091SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063337	Disease	p.GLY1094SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001721	Disease	p.GLY1142SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001722	Disease	p.GLY1151SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001727	Disease	p.GLY1181SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001729	Disease	p.GLY1187SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063299	Disease	p.GLY287SER	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063306	Disease	p.GLY353SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001662	Disease	p.GLY425SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001666	Disease	p.GLY530SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001668	Disease	p.GLY560SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001674	Disease	p.GLY593SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063319	Disease	p.GLY647SER	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001676	Disease	p.GLY656SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063320	Disease	p.GLY683SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001680	Disease	p.GLY719SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063321	Disease	p.GLY722SER	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001683	Disease	p.GLY743SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001686	Disease	p.GLY767SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001687	Disease	p.GLY776SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001688	Disease	p.GLY809SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001690	Disease	p.GLY821SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001692	Disease	p.GLY839SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_008118	Disease	p.GLY866SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063327	Disease	p.GLY875SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001697	Disease	p.GLY884SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063329	Polymorphism	p.GLY906SER	N/A
Swiss-Prot	VAR_001703	Disease	p.GLY1022VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001723	Disease	p.GLY1151VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001728	Disease	p.GLY1184VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001730	Disease	p.GLY1187VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063294	Disease	p.GLY200VAL	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063295	Disease	p.GLY203VAL	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001647	Disease	p.GLY263VAL	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063302	Disease	p.GLY320VAL	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063307	Disease	p.GLY368VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001663	Disease	p.GLY434VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063310	Disease	p.GLY470VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063311	Disease	p.GLY509VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063322	Disease	p.GLY734VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001684	Disease	p.GLY743VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001685	Disease	p.GLY764VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001689	Disease	p.GLY815VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001700	Disease	p.GLY980VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001735	Disease	p.LEU1388ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001737	Disease	p.LEU1464PRO	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_033780	Polymorphism	p.LYS1430ASN	N/A
Swiss-Prot	VAR_001643	Polymorphism	p.PRO205ALA	N/A
Swiss-Prot	VAR_001691	Polymorphism	p.PRO823ALA	N/A
Swiss-Prot	VAR_030016	Polymorphism	p.PRO1438ARG	N/A
Swiss-Prot	VAR_063313	Disease	p.PRO555ARG	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_030017	Polymorphism	p.PRO1460HIS	N/A
Swiss-Prot	VAR_063291	Polymorphism	p.PRO146THR	N/A
Swiss-Prot	VAR_030014	Polymorphism	p.SER1251THR	N/A
Swiss-Prot	VAR_001712	Polymorphism	p.THR1075ALA	N/A
Swiss-Prot	VAR_033781	Polymorphism	p.THR1431PRO	N/A
Swiss-Prot	VAR_001736	Polymorphism	p.THR1434SER	N/A
Swiss-Prot	VAR_001733	Disease	p.TRP1312CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_033779	Polymorphism	p.VAL1177ILE	N/A
Swiss-Prot	VAR_063304	Disease	p.VAL349PHE	Osteogenesis imperfecta 1 (OI1)

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