Difference between revisions of "Sequence based mutation analysis of GBA"
From Bioinformatikpedia
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||'''SNP ID/Accession Number''' || '''Database '''||''' Position''' || '''Amino Acid Change''' ||''' Codon Change''' || '''Phenotype '''|| '''Description''' || Further Remarks |
||'''SNP ID/Accession Number''' || '''Database '''||''' Position''' || '''Amino Acid Change''' ||''' Codon Change''' || '''Phenotype '''|| '''Description''' || Further Remarks |
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| − | ||rs76337315|| dbSNP || 80 (???) || - || GAG - GAA || || Synonymous SNP || |
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||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. |
||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. |
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|| CM993703 || HGMD || 350 || His - Arg || CAT - CGT || Gaucher Disease 2 || Histidin is polar and mostley neutral, whereas Arginine is nonpolar and positively charged || - |
|| 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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| − | || rs77130994 || dbSNP || 517 (???)|| - || GGC - GGA || || Synonymous SNP || check again ... |
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Revision as of 16:53, 21 June 2011
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 |
| 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. |
| rs80205046 | dbSNP | Pro - Leu | CCC - CTC | Missense Mutation | |||
| 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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