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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 subunits; initially, one is dark green; the other is colored to reflect secondary structure.

Leucine vs. Proline



2˚ Structure

1 subunit only

1 subunit (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)

Hydrophobic [silver] vs. Hydrophilic Residues [orchid]; Leu444 indicated

Hydrophobic [silver] vs. Hydrophilic Residues+;(Spacefill w/ Leu 444 selected)

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*To discover atom/amino acid identity, hover the mouse over it. Amino acids will show up using 3-letter code (i.e. [GLY] = glycine); DNA thymine= [DT]

General Instructions: For access to JMOL commands, right click (Mac Users:Hold down control key and click) in the structure display area