Results for the protein: P02458

Results for the Protein: P02458

124056489

1280

COL2A1

NCBI, UniProt

CO2A1_HUMAN RecName: Full=Collagen alpha-1(II) chain; AltName: Full=Alpha-1 type II collagen; Contains: RecName: Full=Collagen alpha-1(II) chain; Contains: RecName: Full=Chondrocalcin; Flags: Precursor

Known Diseases associated with this Protein:
  ACHONDROGENESIS 2 (ACG2)
  ACHONDROGENESIS, TYPE II
  AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
  CZECH DYSPLASIA
  CZECH DYSPLASIA (CZECHD)
  EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
  HYPOCHONDROGENESIS
  KNIEST DYSPLASIA
  KNIEST DYSPLASIA (KD)
  LEGG-CALVE-PERTHES DISEASE, INCLUDED
  OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
  OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA (OACD)
  OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA, INCLUDED
  PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA TORRANCE TYPE (PLSD-T)
  PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE
  PRIMARY AVASCULAR NECROSIS OF FEMORAL HEAD (ANFH)
  RHEGMATOGENOUS RETINAL DETACHMENT AUTOSOMAL DOMINANT (DRRD)
  RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
  RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE (SEMDSTWK)
  SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
  SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITAL TYPE (SEDC)
  SPONDYLOPERIPHERAL DYSPLASIA
  SPONDYLOPERIPHERAL DYSPLASIA, INCLUDED
  STICKLER SYNDROME 1 (STL1)
  STICKLER SYNDROME 1 NON-SYNDROMIC OCULAR (STL1O)
  STICKLER SYNDROME, TYPE I
  STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
  VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA

94

16

37

4

69

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: P02458 Identical to: NP_001835 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	3.8e-12	117	176
Collagen	pfam01391	2.4e-12	199	257
Collagen	pfam01391	1.9e-17	258	317
Collagen	pfam01391	3.2e-14	318	377
Collagen	pfam01391	3.4e-13	378	437
Collagen	pfam01391	5.8e-15	438	497
Collagen	pfam01391	9.5e-13	498	557
Collagen	pfam01391	4.5e-15	558	617
Collagen	pfam01391	4.2e-16	618	677
Collagen	pfam01391	8.3e-14	678	737
Collagen	pfam01391	2.4e-16	738	797
Collagen	pfam01391	4.9e-17	801	860
Collagen	pfam01391	5.9e-14	861	920
Collagen	pfam01391	2.1e-12	921	980
Collagen	pfam01391	3.9e-13	981	1040
Collagen	pfam01391	7.1e-14	1041	1100
Collagen	pfam01391	1.2e-12	1101	1157
Collagen	pfam01391	3.2e-12	1158	1217
COLFI	pfam01410	2.3e-162	1269	1486
VWC	smart00214	2.9e-22	34	89
COLFI	smart00038	1.2e-187	1252	1487

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_033784	Polymorphism	p.ALA1051THR	N/A
Swiss-Prot	VAR_001739	Disease	p.ARG275CYS	Czech dysplasia (CZECHD)
Swiss-Prot	VAR_023927	Disease	p.ARG565CYS	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_001748	Disease	p.ARG719CYS	Osteoarthritis with mild chondrodysplasia (OACD)
Swiss-Prot	VAR_017645	Disease	p.ARG904CYS	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_001755	Disease	p.ARG989CYS	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_023932	Disease	p.ARG992GLY	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Swiss-Prot	VAR_024824	Disease	p.ASP1469HIS	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
Swiss-Prot	VAR_063897	Disease	p.ASP547VAL	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_024826	Disease	p.CYS1485GLY	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
Swiss-Prot	VAR_063891	Disease	p.CYS57TYR	Stickler syndrome 1 non-syndromic ocular (STL1O)
dbSNP	rs34392760	Polymorphism	p.GLU142ASP	N/A
Swiss-Prot	VAR_063898	Disease	p.GLY1158ALA	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_063895	Disease	p.GLY453ALA	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_024821	Disease	p.GLY771ALA	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001751	Polymorphism	p.GLY804ALA	N/A
Swiss-Prot	VAR_017650	Disease	p.GLY1119ARG	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_017651	Disease	p.GLY1173ARG	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_066837	Polymorphism	p.GLY1179ARG	N/A
Swiss-Prot	VAR_001764	Disease	p.GLY1188ARG	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_063893	Disease	p.GLY270ARG	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_023925	Disease	p.GLY318ARG	Rhegmatogenous retinal detachment autosomal dominant (DRRD)
Swiss-Prot	VAR_001742	Polymorphism	p.GLY354ARG	N/A
Swiss-Prot	VAR_001743	Disease	p.GLY375ARG	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_063896	Disease	p.GLY501ARG	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_017642	Disease	p.GLY780ARG	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_017643	Disease	p.GLY795ARG	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001752	Disease	p.GLY891ARG	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_023934	Polymorphism	p.GLY1305ASP	N/A
Swiss-Prot	VAR_063892	Disease	p.GLY240ASP	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_001738	Disease	p.GLY267ASP	Stickler syndrome 1 non-syndromic ocular (STL1O)
Swiss-Prot	VAR_063894	Disease	p.GLY282ASP	Stickler syndrome 1 (STL1)
Swiss-Prot	VAR_001741	Disease	p.GLY303ASP	Kniest dysplasia (KD)
Swiss-Prot	VAR_017639	Disease	p.GLY453ASP	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001747	Disease	p.GLY510ASP	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_023926	Polymorphism	p.GLY516ASP	N/A
Swiss-Prot	VAR_017641	Disease	p.GLY771ASP	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_017646	Disease	p.GLY948ASP	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001759	Disease	p.GLY1110CYS	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001760	Polymorphism	p.GLY1113CYS	N/A
Swiss-Prot	VAR_001746	Disease	p.GLY504CYS	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Swiss-Prot	VAR_001753	Disease	p.GLY909CYS	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Swiss-Prot	VAR_001758	Polymorphism	p.GLY1053GLU	N/A
Swiss-Prot	VAR_017644	Disease	p.GLY894GLU	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001756	Polymorphism	p.GLY1005SER	N/A
Swiss-Prot	VAR_001761	Disease	p.GLY1143SER	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_023933	Disease	p.GLY1170SER	Primary avascular necrosis of femoral head (ANFH)
Swiss-Prot	VAR_001763	Disease	p.GLY1176SER	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_001765	Disease	p.GLY1197SER	Spondyloepiphyseal dysplasia congenital type (SEDC)
dbSNP	rs2070739	Polymorphism	p.GLY1405SER	N/A
Swiss-Prot	VAR_001744	Disease	p.GLY447SER	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_024819	Disease	p.GLY513SER	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_023929	Disease	p.GLY717SER	Primary avascular necrosis of femoral head (ANFH)
Swiss-Prot	VAR_001749	Disease	p.GLY774SER	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_023930	Disease	p.GLY855SER	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_001754	Disease	p.GLY969SER	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_017647	Disease	p.GLY981SER	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001757	Disease	p.GLY1017VAL	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_017649	Disease	p.GLY1065VAL	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_066836	Polymorphism	p.GLY1176VAL	N/A
Swiss-Prot	VAR_017640	Disease	p.GLY453VAL	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_001745	Disease	p.GLY492VAL	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Swiss-Prot	VAR_024820	Disease	p.GLY717VAL	Achondrogenesis 2 (ACG2)
Swiss-Prot	VAR_023931	Disease	p.GLY897VAL	Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK)
Swiss-Prot	VAR_023928	Disease	p.LEU667PHE	Rhegmatogenous retinal detachment autosomal dominant (DRRD)
Swiss-Prot	VAR_019836	Polymorphism	p.PRO158LEU	N/A
Swiss-Prot	VAR_024822	Disease	p.THR1390ASN	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
Swiss-Prot	VAR_033783	Polymorphism	p.THR638ILE	N/A
Swiss-Prot	VAR_017105	Disease	p.THR1439MET	Spondyloepiphyseal dysplasia congenital type (SEDC)
Swiss-Prot	VAR_024823	Disease	p.THR1448PRO	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
dbSNP	rs3803183	Polymorphism	p.THR9SER	N/A
Swiss-Prot	VAR_023935	Disease	p.TYR1391CYS	Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
dbSNP	rs12721427	Polymorphism	p.VAL1331ILE	N/A
OMIM	120140.0033	Disease	p.ARG365CYS	STICKLER SYNDROME, TYPE I
OMIM	120140.0003	Disease	p.ARG519CYS	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA\|\|OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA, INCLUDED
OMIM	120140.0029	Disease	p.ARG704CYS	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
OMIM	120140.0018	Disease	p.ARG75CYS	CZECH DYSPLASIA
OMIM	120140.0016	Disease	p.ARG789CYS	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0047	Disease	p.ARG792GLY	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0045	Disease	p.ARG453TER	STICKLER SYNDROME, TYPE I\|\|RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
OMIM	120140.0005	Disease	p.ARG732TER	STICKLER SYNDROME, TYPE I
OMIM	120140.0010	Disease	p.ARG9TER	STICKLER SYNDROME, TYPE I
OMIM	120140.0042	Disease	p.CYS1438TER	SPONDYLOPERIPHERAL DYSPLASIA
OMIM	120140.0051	Disease	p.CYS64TER	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0052	Disease	p.CYS57TYR	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0046	Disease	p.GLY118ARG	RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
OMIM	120140.0013	Disease	p.GLY154ARG	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0022	Disease	p.GLY691ARG	ACHONDROGENESIS, TYPE II
OMIM	120140.0031	Disease	p.GLY973ARG	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0020	Disease	p.GLY103ASP	KNIEST DYSPLASIA
OMIM	120140.0037	Disease	p.GLY1105ASP	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
OMIM	120140.0038	Disease	p.GLY316ASP	ACHONDROGENESIS, TYPE II
OMIM	120140.0014	Disease	p.GLY67ASP	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0027	Disease	p.GLY304CYS	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0017	Disease	p.GLY709CYS	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0009	Disease	p.GLY853GLU	HYPOCHONDROGENESIS
OMIM	120140.0043	Disease	p.GLY1170SER	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY\|\|LEGG-CALVE-PERTHES DISEASE, INCLUDED
OMIM	120140.0007	Disease	p.GLY574SER	HYPOCHONDROGENESIS
OMIM	120140.0044	Disease	p.GLY717SER	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
OMIM	120140.0021	Disease	p.GLY769SER	ACHONDROGENESIS, TYPE II
OMIM	120140.0002	Disease	p.GLY943SER	HYPOCHONDROGENESIS
OMIM	120140.0011	Disease	p.GLY997SER	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0028	Disease	p.GLY292VAL	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0053	Disease	p.GLY346VAL	ACHONDROGENESIS, TYPE II
OMIM	120140.0034	Disease	p.LEU467PHE	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0015	Disease	p.PRO846TER	STICKLER SYNDROME, TYPE I
OMIM	120140.0035	Disease	p.THR1370MET	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0054	Disease	p.THR1383MET	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
OMIM	120140.0050	Disease	p.TRP47TER	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0039	Disease	p.TYR1391CYS	PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE\|\|SPONDYLOPERIPHERAL DYSPLASIA, INCLUDED

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