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  Domain Name: AAA
ATPases associated with a variety of cellular activities. AAA - ATPases associated with a variety of cellular activities. This profile/alignment only detects a fraction of this vast family. The poorly conserved N-terminal helix is missing from the alignment.

Total Mutations Found: 235
Total Disease Mutations Found: 139
This domain occurred 110 times on human genes (234 proteins).



  ADDISON DISEASE
  ADRENOLEUKODYSTROPHY
  ADRENOMYELONEUROPATHY
  AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
  ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED
  BREAST CANCER, FAMILIAL
  BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
  BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
  CARDIOMYOPATHY, DILATED, 1O
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2
  CONE-ROD DYSTROPHY 3, INCLUDED
  CYSTIC FIBROSIS
  DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
  DUBIN-JOHNSON SYNDROME
  FANCONI ANEMIA, COMPLEMENTATION GROUP O
  FUNDUS FLAVIMACULATUS
  GALLBLADDER DISEASE 1
  GALLBLADDER DISEASE 1, INCLUDED
  HIGH DENSITY LIPOPROTEIN DEFICIENCY
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE
  JUNIOR BLOOD GROUP SYSTEM, JR(A-) PHENOTYPE, INCLUDED
  LANGEREIS BLOOD GROUP SYSTEM, LAN(-) PHENOTYPE
  MEIER-GORLIN SYNDROME 1
  MEIER-GORLIN SYNDROME 2
  MEIER-GORLIN SYNDROME 5
  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
  MIRROR MOVEMENTS 2, SUSCEPTIBILITY TO
  MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1
  PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
  PEROXISOME BIOGENESIS DISORDER 1B, INCLUDED
  PEROXISOME BIOGENESIS DISORDER 4B
  PSEUDOXANTHOMA ELASTICUM
  RETINAL DYSTROPHY, EARLY-ONSET SEVERE
  SITOSTEROLEMIA
  SPASTIC PARAPLEGIA 4
  SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
  SPINOCEREBELLAR ATAXIA 28
  STARGARDT DISEASE 1
  SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
  TANGIER DISEASE
  TAP1 DEFICIENCY, SOMATIC
  URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
  VAS DEFERENS, CONGENITAL BILATERAL ABSENCE OF


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Range on the Protein:  

   Protein ID            Protein Position