Difference between revisions of "Sequence-based mutation analysis GLA"

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=Mutation Analysis=
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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

Mutation Analysis

Discussion