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  Domain Name: SMN
Survival motor neuron protein (SMN). This family consists of several eukaryotic survival motor neuron (SMN) proteins. The Survival of Motor Neurons (SMN) protein, the product of the spinal muscular atrophy-determining gene, is part of a large macromolecular complex (SMN complex) that functions in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs). The SMN complex functions as a specificity factor essential for the efficient assembly of Sm proteins on U snRNAs and likely protects cells from illicit, and potentially deleterious, non-specific binding of Sm proteins to RNAs.
No pairwise interactions found for the domain SMN

Total Mutations Found: 29
Total Disease Mutations Found: 29
This domain occurred 2 times on human genes (7 proteins).



  SPINAL MUSCULAR ATROPHY, MODIFIER OF
  SPINAL MUSCULAR ATROPHY, TYPE I
  SPINAL MUSCULAR ATROPHY, TYPE II
  SPINAL MUSCULAR ATROPHY, TYPE II, INCLUDED
  SPINAL MUSCULAR ATROPHY, TYPE III
  SPINAL MUSCULAR ATROPHY, TYPE III, INCLUDED


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Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


No Conserved Features/Sites Found for SMN












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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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