Gaucher Disease: Task 07 - Research SNPs
HGMD
The Glucocerebrosidase has the gene symbol GBA. A research on The Human Gene Mutation Database for GBA leads to the following results:
GBA in HGMD | |||
---|---|---|---|
Mutation Type | Number of Mutations | Effect of Mutation | |
Missense/nonsense | 256 | Single base-pair substitutions in coding regions are presented in terms of a triplet change with an additional flanking base included if the mutated base lies in either the first or third position in the triplet. There are currently 256 mutations available in this category. | |
Splicing | 16 | mutations with consequences for mRNA splicing are presented in brief with information specifying the relative position of the lesion with respect to a numbered intron donor or acceptor splice site. Positions given as positive integers refer to a 3' (downstream) location, negative integers refer to a 5' (upstream) location | |
Regulatory | 0 | ||
Small deletions | 26 | micro-deletions (20 bp or less) are presented in terms of the deleted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. | |
Small insertions | 13 | micro-insertions (20 bp or less) are presented in terms of the inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. | |
Small indels | 4 | micro-indels (20 bp or less) are presented in terms of the deleted/inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. |
The mutations on GBA do not only result to Gaucher's disease or influence its phenotype, but in some cases, also have an effect on the phenotype of the diseases Parkinson and Alzheimer
In HGMD, look for missense and nonsense mutations (HGMD does not list silent point mutations).
dbSNP
blub
In dbSNP, look for silent (point) mutations. In most cases, significantly more than 100 mutations are known. The residue numbers in the databases may not correspond to each other.
SNPedia
SNPdbe
In SNPdbe, look for disease causing mutations and those that have no effect (often not verified). Please disregard the two colums "Predicted functional effect" for this week.
OMIM
Mutation map
Extract information for your protein/disease from the databases. Are there mutation hot-spots? Map approximately 100 point mutations onto your protein sequence (disease and non-disease causing).