Sequence based mutation analysis of GBA

SNP Selection

The following 10 SNPs were chosen for the analysis in this task. It was tried to include SNPs all over the protein, to investigate the influence of mutations in several parts of the protein. The mutated residues forming hydrogenbonds with the active site of glucocerebrosidase are included, as these should result in either a mal- or nonfunctioning protein. Note that the positions of the SNPs listed in HGMD are different from the corresponding codon numbers, indicated in Task 5, as this position is relative to the sequence of GBA including the signal peptide (+ 39 residues).

SNP ID/Accession Number	Database	Position	Amino Acid Change	Codon Change	Phenotype	Description	Further Remarks
rs76337315	dbSNP	80	-	GAG - GAA		Synonymous SNP
CM880035	HGMD	159	Arg - Gln	CGG-CAG	Gaucher Disease 1	Arginin is nonpolar and positively charged. Glutamine is by contrast polar and neutral.	Synonymos Mutation at this Position listed in dbSNP.
CM993703	HGMD	350	His - Arg	CAT - CGT	Gaucher Disease 2	Histidin is polar and mostley neutral, whereas Arginine is nonpolar and positively charged	-

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