Difference between revisions of "Gaucher Disease: Task 07 - Research SNPs"
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*The following information (if available) is given on each SAAS (single amino acid substitution): |
*The following information (if available) is given on each SAAS (single amino acid substitution): |
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− | + | **Experimentally derived functional and structural impact |
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− | + | **Predicted functional effect |
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− | + | **Associated disease |
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− | + | **Average heterozygosity |
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− | + | **Experimental evidence of the nsSNP |
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− | + | **Evolutionary conservation of wildtype and mutant amino acid |
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− | + | **Link-outs to external databases |
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*Last update: 2012-02-20 (updated to recent Swiss-Prot release (2012-01)). |
*Last update: 2012-02-20 (updated to recent Swiss-Prot release (2012-01)). |
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**Disease associations: 26842 (3%) |
**Disease associations: 26842 (3%) |
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**Observed functional effect and disease: 1629 (0%) |
**Observed functional effect and disease: 1629 (0%) |
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+ | |||
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. |
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. |
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+ | You can search for example your protein, gene or disease. |
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+ | Look at results for human. |
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+ | Is experimental evidence available? |
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+ | Use the conservation score as a first (simple) estimate of effect (disease causing) or no effect. |
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==OMIM== |
==OMIM== |
Revision as of 23:50, 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 | deletion (>20 bp) | |
Gross insertions/duplications | 1 | insertion (>20 bp) | |
Complex rearrangements | 16 | rearangement of DNA fragments within the sequence | |
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.
HGMD public (2008 update) provides 335 mutations for GBA. On HGMD Professional 2013.1, 380 mutations can be found.
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
- The following information (if available) is given on each SAAS (single amino acid substitution):
- Experimentally derived functional and structural impact
- Predicted functional effect
- Associated disease
- Average heterozygosity
- Experimental evidence of the nsSNP
- Evolutionary conservation of wildtype and mutant amino acid
- Link-outs to external databases
- Last update: 2012-02-20 (updated to recent Swiss-Prot release (2012-01)).
- The information comes from various databases:
- SwissProt
- PMD
- dbSNP
- 1000 Genomes
- Currently 159142 protein sequences from 2985 organisms are covered in SNPdbe (2013-06-23).
- 1691464 SAASs are referenced, consisting of:
- natural variants
- SAASs from mutagenesis experiments
- sequencing conflicts
- Human variants:
- Overall: 967879 (100%)
- Observed functional effect: 23121 (2%)
- Disease associations: 26842 (3%)
- Observed functional effect and disease: 1629 (0%)
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. You can search for example your protein, gene or disease. Look at results for human. Is experimental evidence available? Use the conservation score as a first (simple) estimate of effect (disease causing) or no effect.
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).