Results for the protein: NP

Results for the Protein: NP_149162

111118974

1280

COL2A1

NCBI

collagen alpha-1(II) chain isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ACHONDROGENESIS, TYPE II
  AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
  CZECH DYSPLASIA
  EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
  HYPOCHONDROGENESIS
  KNIEST DYSPLASIA
  LEGG-CALVE-PERTHES DISEASE, INCLUDED
  OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
  OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA, INCLUDED
  PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE
  RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
  RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
  SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
  SPONDYLOPERIPHERAL DYSPLASIA
  SPONDYLOPERIPHERAL DYSPLASIA, INCLUDED
  STICKLER SYNDROME, TYPE I
  STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
  VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA

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Tips:

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To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: Collagen - pfam01391 COLFI - smart00038 COLFI - pfam01410	RefSeq Protein: NP_149162 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Collagen	pfam01391	2.4e-12	130	188
Collagen	pfam01391	1.9e-17	189	248
Collagen	pfam01391	3.2e-14	249	308
Collagen	pfam01391	3.4e-13	309	368
Collagen	pfam01391	5.8e-15	369	428
Collagen	pfam01391	9.5e-13	429	488
Collagen	pfam01391	4.5e-15	489	548
Collagen	pfam01391	4.2e-16	549	608
Collagen	pfam01391	8.3e-14	609	668
Collagen	pfam01391	2.4e-16	669	728
Collagen	pfam01391	4.9e-17	732	791
Collagen	pfam01391	5.9e-14	792	851
Collagen	pfam01391	2.1e-12	852	911
Collagen	pfam01391	3.9e-13	912	971
Collagen	pfam01391	7.1e-14	972	1031
Collagen	pfam01391	1.2e-12	1032	1088
Collagen	pfam01391	3.2e-12	1089	1148
COLFI	pfam01410	2.3e-162	1200	1417
COLFI	smart00038	1.2e-187	1183	1418

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs34392760	Polymorphism	p.GLU73ASP	N/A
dbSNP	rs2070739	Polymorphism	p.GLY1336SER	N/A
dbSNP	rs3803183	Polymorphism	p.THR9SER	N/A
dbSNP	rs12721427	Polymorphism	p.VAL1262ILE	N/A
OMIM	120140.0018	Disease	p.ARG1CYS	CZECH DYSPLASIA
OMIM	120140.0033	Disease	p.ARG296CYS	STICKLER SYNDROME, TYPE I
OMIM	120140.0003	Disease	p.ARG450CYS	OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA\|\|OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA, INCLUDED
OMIM	120140.0029	Disease	p.ARG635CYS	EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
OMIM	120140.0016	Disease	p.ARG720CYS	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0047	Disease	p.ARG723GLY	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0045	Disease	p.ARG384TER	STICKLER SYNDROME, TYPE I\|\|RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
OMIM	120140.0005	Disease	p.ARG663TER	STICKLER SYNDROME, TYPE I
OMIM	120140.0010	Disease	p.ARG9TER	STICKLER SYNDROME, TYPE I
OMIM	120140.0051	Disease	p.CYS1TER	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0042	Disease	p.CYS1369TER	SPONDYLOPERIPHERAL DYSPLASIA
OMIM	120140.0052	Disease	p.CYS1TYR	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0046	Disease	p.GLY49ARG	RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
OMIM	120140.0022	Disease	p.GLY622ARG	ACHONDROGENESIS, TYPE II
OMIM	120140.0013	Disease	p.GLY85ARG	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0031	Disease	p.GLY904ARG	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0014	Disease	p.GLY1ASP	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0037	Disease	p.GLY1036ASP	VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
OMIM	120140.0038	Disease	p.GLY247ASP	ACHONDROGENESIS, TYPE II
OMIM	120140.0020	Disease	p.GLY34ASP	KNIEST DYSPLASIA
OMIM	120140.0027	Disease	p.GLY235CYS	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0017	Disease	p.GLY640CYS	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0009	Disease	p.GLY784GLU	HYPOCHONDROGENESIS
OMIM	120140.0043	Disease	p.GLY1101SER	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY\|\|LEGG-CALVE-PERTHES DISEASE, INCLUDED
OMIM	120140.0007	Disease	p.GLY505SER	HYPOCHONDROGENESIS
OMIM	120140.0044	Disease	p.GLY648SER	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
OMIM	120140.0021	Disease	p.GLY700SER	ACHONDROGENESIS, TYPE II
OMIM	120140.0002	Disease	p.GLY874SER	HYPOCHONDROGENESIS
OMIM	120140.0011	Disease	p.GLY928SER	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0028	Disease	p.GLY223VAL	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
OMIM	120140.0053	Disease	p.GLY277VAL	ACHONDROGENESIS, TYPE II
OMIM	120140.0034	Disease	p.LEU398PHE	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0015	Disease	p.PRO777TER	STICKLER SYNDROME, TYPE I
OMIM	120140.0035	Disease	p.THR1301MET	SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
OMIM	120140.0054	Disease	p.THR1314MET	AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
OMIM	120140.0050	Disease	p.TRP1TER	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
OMIM	120140.0039	Disease	p.TYR1322CYS	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.

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