Results for the protein: P08123

Results for the Protein: P08123

296439507

1278

COL1A2

NCBI, UniProt

CO1A2_HUMAN RecName: Full=Collagen alpha-2(I) chain; AltName: Full=Alpha-2 type I collagen; Flags: Precursor

Known Diseases associated with this Protein:
  EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
  OSTEOGENESIS IMPERFECTA 1 (OI1)
  OSTEOGENESIS IMPERFECTA 2 (OI2)
  OSTEOGENESIS IMPERFECTA 3 (OI3)
  OSTEOGENESIS IMPERFECTA 4 (OI4)
  OSTEOGENESIS IMPERFECTA, TYPE II
  OSTEOGENESIS IMPERFECTA, TYPE III
  OSTEOGENESIS IMPERFECTA, TYPE IV
  OSTEOPOROSIS, POSTMENOPAUSAL
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

102

21

24

1

98

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Default View: Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	Swiss-Prot Protein: P08123 Identical to: NP_000080 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	8.6e-12	90	147
Collagen	pfam01391	3.2e-15	148	207
Collagen	pfam01391	1.2e-12	208	267
Collagen	pfam01391	3.2e-13	268	327
Collagen	pfam01391	1.1e-13	328	387
Collagen	pfam01391	3.2e-12	388	447
Collagen	pfam01391	5.1e-12	448	507
Collagen	pfam01391	1.5e-12	508	567
Collagen	pfam01391	1.8e-12	568	627
Collagen	pfam01391	5.9e-13	628	687
Collagen	pfam01391	8.5e-16	691	750
Collagen	pfam01391	2.1e-12	751	810
Collagen	pfam01391	6.2e-12	811	870
Collagen	pfam01391	3e-15	874	933
Collagen	pfam01391	2e-11	934	990
Collagen	pfam01391	3.9e-13	991	1050
Collagen	pfam01391	3.8e-11	1051	1110
COLFI	pfam01410	5.9e-149	1149	1365
COLFI	smart00038	5.3e-163	1132	1366

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_001880	Polymorphism	p.ALA743GLY	N/A
Swiss-Prot	VAR_066386	Polymorphism	p.ALA1119THR	N/A
Swiss-Prot	VAR_001854	Polymorphism	p.ALA276THR	N/A
Swiss-Prot	VAR_033041	Polymorphism	p.ALA564THR	N/A
Swiss-Prot	VAR_030119	Polymorphism	p.ALA483VAL	N/A
Swiss-Prot	VAR_063345	Disease	p.ARG234CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001876	Polymorphism	p.ARG708GLN	N/A
Swiss-Prot	VAR_069633	Polymorphism	p.ARG1067HIS	N/A
Swiss-Prot	VAR_001889	Polymorphism	p.ARG822HIS	N/A
Swiss-Prot	VAR_033040	Polymorphism	p.ASN528SER	N/A
Swiss-Prot	VAR_001905	Polymorphism	p.ASP1189GLU	N/A
Swiss-Prot	VAR_063383	Disease	p.CYS1195TYR	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_030122	Polymorphism	p.GLN1354HIS	N/A
Swiss-Prot	VAR_001901	Disease	p.GLY1096ALA	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001902	Disease	p.GLY1102ARG	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063344	Disease	p.GLY202ARG	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063346	Disease	p.GLY247ARG	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063349	Disease	p.GLY283ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063350	Disease	p.GLY319ARG	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001865	Disease	p.GLY517ARG	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001866	Disease	p.GLY547ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001869	Disease	p.GLY586ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063364	Disease	p.GLY739ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001882	Disease	p.GLY754ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001885	Disease	p.GLY784ARG	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063372	Disease	p.GLY856ARG	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063378	Disease	p.GLY1003ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001899	Disease	p.GLY1066ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063381	Disease	p.GLY1087ASP	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001852	Disease	p.GLY211ASP	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063347	Disease	p.GLY253ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_008119	Disease	p.GLY331ASP	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001864	Disease	p.GLY511ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063360	Disease	p.GLY625ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001872	Disease	p.GLY637ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001874	Disease	p.GLY670ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063361	Disease	p.GLY676ASP	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001877	Disease	p.GLY715ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001887	Disease	p.GLY790ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001892	Disease	p.GLY892ASP	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001893	Disease	p.GLY895ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063374	Disease	p.GLY955ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063375	Disease	p.GLY982ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001896	Disease	p.GLY997ASP	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001900	Disease	p.GLY1078CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001856	Disease	p.GLY334CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001857	Disease	p.GLY337CYS	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001860	Disease	p.GLY349CYS	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063354	Disease	p.GLY454CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001868	Disease	p.GLY562CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001878	Disease	p.GLY730CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063363	Disease	p.GLY733CYS	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001879	Disease	p.GLY736CYS	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_063366	Disease	p.GLY754CYS	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001886	Disease	p.GLY787CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063371	Disease	p.GLY835CYS	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001891	Disease	p.GLY877CYS	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063379	Disease	p.GLY1027GLU	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063351	Disease	p.GLY325GLU	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063353	Disease	p.GLY397GLU	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001862	Disease	p.GLY433GLU	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063357	Disease	p.GLY526GLU	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063355	Disease	p.GLY457LEU	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001897	Disease	p.GLY1012SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063343	Disease	p.GLY193SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001855	Disease	p.GLY328SER	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001858	Disease	p.GLY337SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063352	Disease	p.GLY358SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001863	Disease	p.GLY460SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001870	Disease	p.GLY592SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063359	Polymorphism	p.GLY601SER	N/A
Swiss-Prot	VAR_001873	Disease	p.GLY640SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001881	Disease	p.GLY751SER	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001884	Disease	p.GLY778SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001888	Disease	p.GLY796SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063370	Disease	p.GLY820SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001890	Disease	p.GLY835SER	Osteogenesis imperfecta 1 (OI1)
Swiss-Prot	VAR_001894	Disease	p.GLY949SER	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001895	Disease	p.GLY955SER	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063348	Disease	p.GLY256VAL	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001861	Disease	p.GLY409VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_063358	Disease	p.GLY562VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001871	Disease	p.GLY634VAL	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_001875	Disease	p.GLY676VAL	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063365	Disease	p.GLY748VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_001883	Disease	p.GLY766VAL	Osteogenesis imperfecta 4 (OI4)
Swiss-Prot	VAR_063373	Disease	p.GLY856VAL	Osteogenesis imperfecta 2 (OI2)
Swiss-Prot	VAR_008120	Disease	p.GLY973VAL	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_063377	Disease	p.GLY991VAL	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_001853	Polymorphism	p.ILE249ASN	N/A
Swiss-Prot	VAR_001898	Polymorphism	p.LEU1022PHE	N/A
Swiss-Prot	VAR_055677	Polymorphism	p.LEU344VAL	N/A
dbSNP	rs42524	Polymorphism	p.PRO549ALA	N/A
Swiss-Prot	VAR_030121	Polymorphism	p.PRO678HIS	N/A
Swiss-Prot	VAR_001903	Polymorphism	p.PRO1101LEU	N/A
Swiss-Prot	VAR_001906	Polymorphism	p.SER1198PRO	N/A
Swiss-Prot	VAR_001904	Disease	p.THR1148PRO	Osteogenesis imperfecta 3 (OI3)
Swiss-Prot	VAR_030116	Polymorphism	p.THR59PRO	N/A
Swiss-Prot	VAR_030118	Polymorphism	p.VAL270ILE	N/A
OMIM	120160.0020	Disease	p.ARG618GLN	RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
OMIM	120160.0051	Disease	p.GLU1201TER	EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM
OMIM	120160.0037	Disease	p.GLY1006ALA	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120160.0050	Disease	p.GLY379ALA	OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM	120160.0004	Disease	p.GLY1012ARG	OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM	120160.0055	Disease	p.GLY1099ARG	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120160.0025	Disease	p.GLY694ARG	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0054	Disease	p.GLY1090ASP	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120160.0053	Disease	p.GLY421ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0010	Disease	p.GLY547ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0029	Disease	p.GLY580ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0016	Disease	p.GLY805ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0008	Disease	p.GLY907ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0015	Disease	p.GLY976ASP	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0017	Disease	p.GLY259CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0019	Disease	p.GLY472CYS	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0013	Disease	p.GLY646CYS	OSTEOGENESIS IMPERFECTA, TYPE IV
OMIM	120160.0034	Disease	p.GLY502SER	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0030	Disease	p.GLY661SER	OSTEOPOROSIS, POSTMENOPAUSAL
OMIM	120160.0039	Disease	p.GLY751SER	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120160.0033	Disease	p.GLY859SER	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120160.0011	Disease	p.GLY865SER	OSTEOGENESIS IMPERFECTA, TYPE II
OMIM	120160.0044	Disease	p.GLY277TYR	OSTEOGENESIS IMPERFECTA, TYPE III
OMIM	120160.0023 120160.0038	Disease	p.GLY586VAL	OSTEOGENESIS IMPERFECTA, TYPE III

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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