Difference between revisions of "Researching SNPs (Phenylketonuria)"
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543 mutations of the table above are known for causing Phenylketonuria, 58 for Hyperphenylalaninaemia, one for Increased activity and one for association with Schizophrenia. For five of the mutations it is assumed that they cause Phenylketonuria and one Hyperphenylalaninanaemia. |
543 mutations of the table above are known for causing Phenylketonuria, 58 for Hyperphenylalaninaemia, one for Increased activity and one for association with Schizophrenia. For five of the mutations it is assumed that they cause Phenylketonuria and one Hyperphenylalaninanaemia. |
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| − | '''TODO: Three-letter to one-letter amino acid code (NCBI |
+ | '''TODO: Three-letter to one-letter amino acid code (NCBI sequence is not the same as HGMD sequence!!!!) --> own script?''' |
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Revision as of 20:29, 19 June 2013
Contents
Summary
...
Research SNPs
...
HGMD
HGMD (The Human Gene Mutation Database) ... <figtable id="hgmd">
| Mutation types for PAH found in HGMD with appendant quantity and definition | |||
|---|---|---|---|
| Mutation type | # of mutations | Definition | |
| Missense/nonsense | 415 | x | |
| Splicing | 82 | x | |
| Regulatory | 1 | x | |
| Small deletions | 66 | x | |
| Small insertions | 8 | x | |
| Small indels | 6 | x | |
| Gross deletions | 27 | x | |
| Gross insertions/duplications | 3 | x | |
| Complex rearrangements | 1 | x | |
| Repeat variations | 0 | no mutations | |
| Total Number of mutations: 609 (HGMD professional 2013.1: 720) | |||
</figtable> 543 mutations of the table above are known for causing Phenylketonuria, 58 for Hyperphenylalaninaemia, one for Increased activity and one for association with Schizophrenia. For five of the mutations it is assumed that they cause Phenylketonuria and one Hyperphenylalaninanaemia.
TODO: Three-letter to one-letter amino acid code (NCBI sequence is not the same as HGMD sequence!!!!) --> own script?
dbSNP
dbSNP (Short Genetic Variations) ...
SNPdbe
SNPdbe (nsSNP database of functional effects) ...
OMIM
OMIM (Online Mendelian Inheritance in Man) ...
SNPedia
SNPedia ...
Mutation Map
...
References
<references/>
