Difference between revisions of "Gaucher Disease: Task 07 - Research SNPs"

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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
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GBA is not affected by a regulatory mutations and repeated variations. 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).
 
In HGMD, look for missense and nonsense mutations (HGMD does not list silent point mutations).

Revision as of 22:32, 23 June 2013

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

GBA is not affected by a regulatory mutations and repeated variations. 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).