Difference between revisions of "Sequence-based mutation analysis GLA"
From Bioinformatikpedia
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=Introduction= |
=Introduction= |
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+ | =Selected Mutations= |
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− | =Methods & Materials= |
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+ | We randomly selected ten annotated point mutations of the human gene GLA and they were chosen out of a pool of mutations that consist of two subsets. The first subset contains mutations that are present in [http://www.hgmd.org/ HGMD] and these mutations were already gathered in the task 4 [[Mapping_SNPs_GLA|Mapping SNPs]]. The second subset are mutations that are present in [http://www.ncbi.nlm.nih.gov/projects/SNP/ dbSNP], but not included in HGMD. This was only the case for three mutations. |
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+ | Mutations at the amino acid position between 1 and 31 were not included in the selection process, because they are part of the signal peptide (see [http://www.uniprot.org/uniprot/P06280 UniProt entry]) and they are not present in the reference structure ([http://www.rcsb.org/pdb/explore/explore.do?pdbId=1r47 PDB ID 1R47]). |
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− | =Results= |
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+ | {| class="wikitable" border="1" style="text-align:center; border-spacing:0;" |
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− | =Discussion= |
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+ | |- |
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+ | ! Number |
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+ | ! AA-Position |
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+ | ! Codon change |
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+ | ! Amino acid change |
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+ | |- |
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+ | | 1 || 42 || ATG-ACG || Met -> Thr |
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+ | |- |
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+ | | 2 || 65 || AGT-ACG || Ser -> Thr |
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+ | |- |
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+ | | 3 || 117 || ATT-AGT || Ile -> Ser |
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+ | |- |
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+ | | 4 || 143 || cGCA-ACA || Ala -> Thr |
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+ | |- |
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+ | | 5 || 186 || CAC-CGC || His -> Arg |
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+ | |- |
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+ | | 6 || 205 || gCCT-ACT || Pro -> Thr |
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+ | |- |
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+ | | 7 || 244 || gGAC-CAC || Asp -> His |
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+ | |- |
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+ | | 8 || 283 || CAG-CCG || Gln -> Pro |
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+ | |- |
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+ | | 9 || 321 || tCAG-TAG || Gln -> Ter |
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+ | |- |
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+ | | 10 || 365 || TATa-TAA || Tyr -> Ter |
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+ | |- |
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+ | |} |
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+ | |||
+ | |||
+ | |||
+ | [[Category:Fabry Disease]] |
Revision as of 17:46, 27 June 2011
by Benjamin Drexler and Fabian Grandke
Introduction
Selected Mutations
We randomly selected ten annotated point mutations of the human gene GLA and they were chosen out of a pool of mutations that consist of two subsets. The first subset contains mutations that are present in HGMD and these mutations were already gathered in the task 4 Mapping SNPs. The second subset are mutations that are present in dbSNP, but not included in HGMD. This was only the case for three mutations.
Mutations at the amino acid position between 1 and 31 were not included in the selection process, because they are part of the signal peptide (see UniProt entry) and they are not present in the reference structure (PDB ID 1R47).
Number | AA-Position | Codon change | Amino acid change |
---|---|---|---|
1 | 42 | ATG-ACG | Met -> Thr |
2 | 65 | AGT-ACG | Ser -> Thr |
3 | 117 | ATT-AGT | Ile -> Ser |
4 | 143 | cGCA-ACA | Ala -> Thr |
5 | 186 | CAC-CGC | His -> Arg |
6 | 205 | gCCT-ACT | Pro -> Thr |
7 | 244 | gGAC-CAC | Asp -> His |
8 | 283 | CAG-CCG | Gln -> Pro |
9 | 321 | tCAG-TAG | Gln -> Ter |
10 | 365 | TATa-TAA | Tyr -> Ter |