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  Domain Name: MIP
Major intrinsic protein (MIP) superfamily. Members of the MIP superfamily function as membrane channels that selectively transport water, small neutral molecules, and ions out of and between cells. The channel proteins share a common fold: the N-terminal cytosolic portion followed by six transmembrane helices, which might have arisen through gene duplication. On the basis of sequence similarity and functional characteristics, the superfamily can be subdivided into two major groups: water-selective channels called aquaporins (AQPs) and glycerol uptake facilitators (GlpFs). AQPs are found in all three kingdoms of life, while GlpFs have been characterized only within microorganisms.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 38
Total Disease Mutations Found: 21
This domain occurred 13 times on human genes (22 proteins).



  AQUAPORIN 1 DEFICIENCY
  CATARACT 15, LAMELLAR WITH SUTURAL OPACITIES
  CATARACT 15, MULTIPLE TYPES
  COLTON-NULL, INCLUDED
  DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE
  PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
Asn-Pro-Ala signature mot
amphipathic channel

















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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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