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 | substitutions of a single base-pair in coding regions, that cause a amino acid or stop/start codon change | |
Splicing | 16 | mutations that influence the mRNA splicing | |
Regulatory | 0 | different Regulation caused by substitution | |
Small deletions | 26 | micro-deletions (< 21 bp) | |
Small insertions | 13 | micro-insertions (<21 bp) | |
Small indels | 4 | micro-indels (<21 bp) | |
Gross deletions | 3 | information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. | |
Gross insertions/duplications | 1 | information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. | |
Complex rearrangements | 16 | information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. | |
Repeat variations | 0 | different number of repeats |
The mutations on GBA do not only result to Gaucher's disease or influence its phenotype, but may 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).