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  Domain Name: Filament
Intermediate filament protein.
No pairwise interactions found for the domain Filament

Total Mutations Found: 302
Total Disease Mutations Found: 148
This domain occurred 70 times on human genes (98 proteins).



  ALEXANDER DISEASE
  AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO
  CARDIOMYOPATHY, DILATED, 1A
  CARDIOMYOPATHY, DILATED, 1A, INCLUDED
  CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTRIPIC HYPOGONADISM
  CATARACT 12, MULTIPLE TYPES
  CATARACT 30, PULVERULENT
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1
  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E
  CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F
  CIRRHOSIS, CRYPTOGENIC
  CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO, INCLUDED
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, ATYPICAL, AUTOSOMAL RECESSIVE
  EMERY-DREIFUSS MUSCULAR DYSTROPHY, AUTOSOMAL DOMINANT
  EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
  EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1, INCLUDED
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
  EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, WITH SEVERE PALMOPLANTAR
  EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED
  EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED, WITH SEVERE PALMOPLANTAR
  EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED
  EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED, INCLUDED
  EPIDERMOLYTIC HYPERKERATOSIS
  HUTCHINSON-GILFORD PROGERIA SYNDROME, ATYPICAL
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET
  HUTCHINSON-GILFORD PROGERIA SYNDROME, CHILDHOOD-ONSET, INCLUDED
  ICHTHYOSIS BULLOSA OF SIEMENS
  ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS
  KERATODERMA
  KERATOSIS
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
  LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, INCLUDED
  MEESMANN CORNEAL DYSTROPHY
  MONILETHRIX
  MUSCULA
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
  MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED, INCLUDED;;
  MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B
  PACHYONYCHIA CONGENITA TARDA, TYPE 1
  PACHYONYCHIA CONGENITA, TYPE 1
  PACHYONYCHIA CONGENITA, TYPE 2
  PACHYONYCHIA CONGENITA, TYPE 2, INCLUDED
  PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
  PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS
  PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, WITH KNUCKLE PADS, INCLUDED
  PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL
  STEATOCYSTOMA MULTIPLEX
  WOOLLY HAIR, AUTOSOMAL DOMINANT


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for Filament















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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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