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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 286 is Leucine, and in the hypothetical mutant protein it is changed to Serine. Shown are two monomers of the protein; initially, one is dark green; the other is colored to reflect secondary structure.

Leucine vs. Serine



2˚ Structure

1 monomer only

1 monomer (Spacefill)

Leu 286 Alone (backbone smaller and lighter colors)

Leu 286 gold, with its monomer spacefilled

Neighbors Leu286 gold with near amino acid neighbors on 2nd monomer (sidechain carbons light green; labels begin with 'B:')* [both molecules partial ribbons]

Neighbors Leu 286 (golden) & near amino acid neighbors on 2nd monomer (light green; labels begin with 'B:')* [one molecule spacefilled; one ribbon]

Hydrophobic [silver] vs. Hydrophilic Residues [orchid] +

Hydrophobic [silver] vs. Hydrophilic Residues+ (Spacefill)

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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