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Gaucher's Disease Mutation Explanation
The viewer helps interpret the mutation present in Gaucher's Disease. The correct amino acid for this protein at amino acid position 444 is Leucine, and in the affected protein it is changed to Proline. Shown are two monomers of the protein; initially, one is dark green; the other is colored to reflect secondary structure.
  

Amino Acid Feels

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2˚ Structure

1 monomer only

1 monomer (Spacefill)

Leu 444 Alone

Leu 444 as Green (Spacefilled)>

Neighbors Leu 444 (dark, medium sized) near amino acid neighbors (backbone small; sidechain light and large)*

Neighbors Center Leu 444 (dark, medium sized) &
near amino acid neighbors (backbone small; sidechain light and large)*

Neighbors Center Leu 444 (dark, medium sized) &
near amino acid neighbors (backbone small; sidechain light and large)*; ~~~Slab

Hydrophobic vs. Hydrophilic Residues+

Hydrophobic vs. Hydrophilic Residues+ (Spacefill)

Hydrophobic vs. Hydrophilic Residues+;(Spacefill w/ Leu 444 selected; ~~~SLAB)

Hydrophobic vs. Hydrophilic Residues+ (Spacefill w/ Leu 444 centered; ~~~SLAB)

Slice it!


*To find out what atom you're looking at, hover the mouse over it. Amino acids will show up using 3-letter code (i.e. [GLY] = glycine); DNA begins [DT] for thymine, etc.; RNA will be [RT].

+Gray represents Hydrophobic. Lt. Purple represents Hydrophilic.

~~~Slab refers to a feature of this program. It allows you to move the molecule making parts of it "transparent" as you move it. This will allow you to better see interactions or lack there of.

General Instructions: To zoom in on the molecule right-click the mouse (Mac Users: Hold down control key and click) and on the drop-down menu select zoom and then the percentage. As well, if needed, certain atoms and parts of the protein can be selected and made a different color. To do this, right click (Mac Users:Hold down control key and click), select the color menu, and then select what you would like to color and what color you would like it to be.