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  Domain Name: Snu114p
Snu114p, a spliceosome protein, is a GTPase. Snu114p subfamily. Snu114p is one of several proteins that make up the U5 small nuclear ribonucleoprotein (snRNP) particle. U5 is a component of the spliceosome, which catalyzes the splicing of pre-mRNA to remove introns. Snu114p is homologous to EF-2, but typically contains an additional N-terminal domain not found in Ef-2. This protein is part of the GTP translation factor family and the Ras superfamily, characterized by five G-box motifs.
No pairwise interactions are available for this conserved domain.

Total Mutations Found: 12
Total Disease Mutations Found: 8
This domain occurred 9 times on human genes (15 proteins).



  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1
  MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE


Tips:
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 Functional Features are displayed as orange boxes under the histograms. You can choose which features are displayed in the box below.



Range on the Protein:  

   Protein ID            Protein Position

Domain Position:  


Feature Name:Total Found:
GTP/Mg2+ binding site
putative GEF interaction
Switch I region
Switch II region
G1 box
G2 box
G3 box
G4 box
G5 box


















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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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