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).

Nr.	SNP ID/Accession Number	Database	Position	Amino Acid Change	Codon Change	Phenotype	Remarks
1	CM081634	HGMD	49	Gly - Ser	cGGC-AGC	Gaucher Disease
2	rs74953658, CM050263	dbSNP, HGMD	63	Asp-Asn	tGAC-AAC	Gaucher Disease 1
3	rs1141820	dbSNP	99	His - Arg	CAC - CGC		suspected, status not validated
4	CM880035	HGMD	159	Arg - Gln	CGG-CAG	Gaucher Disease 1	Synonymos Mutation at this Position listed in dbSNP.
5	rs80205046, CM041347	dbSNP, HGMD	221	Pro - Leu	CCC - CTC	Gaucher Disease 2
6	rs74731340, CM970620	dbSNP, HGMD	310	Ser - Asn	AGT - AAT	Gaucher Disease
7	CM993703	HGMD	350	His - Arg	CAT - CGT	Gaucher Disease 2	-
8	CM960698	HGMD	426	Pro - Leu	CCC-CTC	Gaucher Disease
9	rs80020805, CM052245	dbSNP, HGMD	455	Met - Val	cATG-GTG	Gaucher Disease 2
10	rs113825752	dbSNP	509	Leu - Pro	CTT - CCT

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