Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
From Bioinformatikpedia
(→Ala-259-Val) |
(→Mutation dataset) |
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{|border="1" cellspacing="0" cellpadding="5" align="center" style="text-align:center" |
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| − | ! colspan=" |
+ | ! colspan="3" style="background:#32CD32;" | SNPs |
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| + | ! style="background:#90EE90;" | AA - three letter |
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| − | |Ala259Val |
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| + | ! style="background:#90EE90;" | AA - one letter |
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| − | |Arg123Ile |
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| + | ! style="background:#90EE90;" | Nucleotides |
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| + | |Ala259Val || A259V || C776T |
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| − | |Gln20Leu |
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| − | |Gly103Ser |
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|- |
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| + | |Arg123Ile || R123I || G368T |
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| − | |His64Asn |
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| − | |Ile421Thr |
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|- |
|- |
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| + | |Gln20Leu || Q20L || A59T |
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| − | |Lys341Thr |
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| − | |Phe392Ser |
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|- |
|- |
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| + | |Gly103Ser || G103S || G307A |
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| − | |Pro416Gln |
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| + | |- |
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| − | |Thr266Ala |
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| + | |His64Asn || H64N || C190A |
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| + | |- |
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| + | |Ile421Thr || I421T || T1262C |
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| + | |- |
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| + | |Lys341Thr || K341T || A1022C |
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| + | |- |
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| + | |Phe392Ser || F392S || T1175C |
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| + | |- |
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| + | |Pro416Gln || P416Q || C1247A |
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| + | |- |
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| + | |Thr266Ala || T266A || A796C |
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Revision as of 11:19, 27 June 2013
Contents
Summary
...
Sequence-based mutation analysis
Mutation dataset
| SNPs | ||
|---|---|---|
| AA - three letter | AA - one letter | Nucleotides |
| Ala259Val | A259V | C776T |
| Arg123Ile | R123I | G368T |
| Gln20Leu | Q20L | A59T |
| Gly103Ser | G103S | G307A |
| His64Asn | H64N | C190A |
| Ile421Thr | I421T | T1262C |
| Lys341Thr | K341T | A1022C |
| Phe392Ser | F392S | T1175C |
| Pro416Gln | P416Q | C1247A |
| Thr266Ala | T266A | A796C |
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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