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  Domain Name: Collagen
Collagen triple helix repeat (20 copies). Members of this family belong to the collagen superfamily. Collagens are generally extracellular structural proteins involved in formation of connective tissue structure. The alignment contains 20 copies of the G-X-Y repeat that forms a triple helix. The first position of the repeat is glycine, the second and third positions can be any residue but are frequently proline and hydroxyproline. Collagens are post translationally modified by proline hydroxylase to form the hydroxyproline residues. Defective hydroxylation is the cause of scurvy. Some members of the collagen superfamily are not involved in connective tissue structure but share the same triple helical structure.
No pairwise interactions found for the domain Collagen

Total Mutations Found: 410
Total Disease Mutations Found: 257
This domain occurred 79 times on human genes (165 proteins).



  ACHONDROGENESIS, TYPE II
  ALPORT SYNDROME, AUTOSOMAL DOMINANT
  ALPORT SYNDROME, AUTOSOMAL DOMINANT (APSAD)
  ALPORT SYNDROME, AUTOSOMAL RECESSIVE
  ALPORT SYNDROME, AUTOSOMAL RECESSIVE (APSAR)
  ALPORT SYNDROME, X-LINKED
  ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS
  AVASCULAR NECROSIS OF THE FEMORAL HEAD, PRIMARY
  BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA, INCLUDED
  BETHLEM MYOPATHY
  BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE
  BRAIN SMALL VESSEL DISEASE WITH AXENFELD-RIEGER ANOMALY
  BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
  CAFFEY DISEASE
  CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1
  CORNEAL DYSTROPHY, POLYMORPHOUS POSTERIOR, 2, INCLUDED
  DEAFNESS, AUTOSOMAL DOMINANT 13
  DEAFNESS, AUTOSOMAL RECESSIVE 53
  ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC/HAIR/TOOTH TYPE, X-LINKED
  EHLERS-DANLOS SYNDROME, TYPE I
  EHLERS-DANLOS SYNDROME, TYPE II
  EHLERS-DANLOS SYNDROME, TYPE III
  EHLERS-DANLOS SYNDROME, TYPE IV
  EHLERS-DANLOS SYNDROME, TYPE IV, VARIANT
  ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
  EPIDERMOLYSIS BULLOS
  EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA
  EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE
  EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
  EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, INCLUDED
  EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE
  EPIDERMOLYSIS BULLOSA, PRETIBIAL
  EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
  EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS
  FIBROCHONDROGENESIS
  HEMATURIA, BENIGN FAMILIAL
  HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO
  HYPOCHONDROGENESIS
  LEGG-CALVE-PERTHES DISEASE, INCLUDED
  MANNOSE-BINDING PROTEIN DEFICIENCY
  MARSHALL/STICKLER SYNDROME
  NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED
  NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED;;
  OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA
  OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA, INCLUDED
  OSTEOGENESIS IMPERFECTA
  OSTEOGENESIS IMPERFECTA 1 (OI1)
  OSTEOGENESIS IMPERFECTA 2 (OI2)
  OSTEOGENESIS IMPERFECTA 3 (OI3)
  OSTEOGENESIS IMPERFECTA, TYPE I
  OSTEOGENESIS IMPERFECTA, TYPE II
  OSTEOGENESIS IMPERFECTA, TYPE IIA
  OSTEOGENESIS IMPERFECTA, TYPE IIC
  OSTEOGENESIS IMPERFECTA, TYPE III
  OSTEOGENESIS IMPERFECTA, TYPE IV
  OSTEOPOROSIS, POSTMENOPAUSAL
  OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROZYGOUS, INCLUDED
  PORENCEPHALY 1
  PORENCEPHALY 1 (POREN1)
  PORENCEPHALY 2
  PRENATAL CORTICAL HYPEROSTOSIS, LETHAL, INCLUDED
  PROSTATE CANCER
  RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE
  RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
  RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT, INCLUDED
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE
  SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
  STICKLER SYNDROME, TYPE I
  STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR
  STICKLER SYNDROME, TYPE III
  STICKLER SYNDROME, TYPE IV
  TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
  ULLRICH CONGENITAL MUSCULAR DYSTROPHY, DIGENIC, COL6A1/COL6A2
  VARIANT
  VARIANT OF UNKNOWN SIGNIFICANCE
  VITREORETINOPATHY WITH PHALANGEAL EPIPHYSEAL DYSPLASIA
  WEISSENBACHER-ZWEYMULLER SYNDROME
  WEISSENBACHER-ZWEYMULLER SYNDROME, AUTOSOMAL RECESSIVE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Collagen






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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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