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  Domain Name: ANK
ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other types of domains. The structural repeat unit contains two antiparallel helices and a beta-hairpin, repeats are stacked in a superhelical arrangement; this alignment contains 4 consecutive repeats.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 206
Total Disease Mutations Found: 63
This domain occurred 224 times on human genes (384 proteins).



  BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B
  CEREBRAL CAVERNOUS MALFORMATIONS 1
  DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL
  DOPAMINE RECEPTOR D2, REDUCED BRAIN DENSITY OF
  FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2
  GLAUCOMA 1, OPEN ANGLE, F
  HEREDIT
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
  HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, INCLUDED
  LEFT VENTRICULAR NONCOMPACTION 7
  LONG QT SYNDROME 4 (LQT4)
  MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2
  MELANOMA-PANCREATIC CANCER SYNDROME, INCLUDED
  METATROPIC DYSPLASIA
  NEPHRONOPHTHISIS 16
  NEPHRONOPHTHISIS 2
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
  PARKINSON DISEASE 14
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED
  SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, INCLUDED;;
  SPHEROCYTOSIS 1 (SPH1)
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED
  SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, INCLUDED;
  SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
  USHER SYNDROME 1G (USH1G)
  USHER SYNDROME, TYPE IG


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Range on the Protein:  

   Protein ID            Protein Position