Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
From Bioinformatikpedia
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*SNAP: |
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*MutationTaster: |
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Revision as of 10:08, 27 June 2013
Contents
Summary
...
Sequence-based mutation analysis
Mutation dataset
| SNPs | |
|---|---|
| Ala259Val | Arg123Ile |
| Gln20Leu | Gly103Ser |
| His64Asn | Ile421Thr |
| Lys341Thr | Phe392Ser |
| Pro416Gln | Thr266Ala |
Investigate the mutations
Ala-259-Val
- Amino acid properties: alanine is tiny, small and hydrophobic, whereas valine is small, aliphatic and hydrophobic
- Mutation position: ...
- Structure: ...
- Substitution Matrices: for all three matrices this substitution has a score in the middle range.
- PSSM: ...
- Mammalian homologs: ...
- SIFT:
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster:
Arg-123-Ile
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Gln-20-Leu
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Gly-103-Ser
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
His-64-Asn
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Ile-421-Thr
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Lys-341-Thr
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Phe-392-Ser
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Pro-416-Gln
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Thr-266-Ala
- Amino acid properties:
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
References
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