Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
From Bioinformatikpedia
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(→Investigate the mutations) |
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===Investigate the mutations=== |
===Investigate the mutations=== |
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====Ala-259-Val==== |
====Ala-259-Val==== |
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| − | *Amino acid properties: alanine is |
+ | *Amino acid properties: alanine is small, non-polar, neutral and hydrophobic - valine is small, aliphatic, non-polar, neutral and hydrophobic |
*Mutation position: ... |
*Mutation position: ... |
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*Structure: ... |
*Structure: ... |
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====Arg-123-Ile==== |
====Arg-123-Ile==== |
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| + | *Amino acid properties: arginine is positively charged, hydrophilic and polar - isoleucine is aliphatic, neutral, non-polar and hydrophobic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Gln-20-Leu==== |
====Gln-20-Leu==== |
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| + | *Amino acid properties: glutamine is neutral, polar and hydrophilic - leucine is aliphatic, neutral, non-polar and hydrophilic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Gly-103-Ser==== |
====Gly-103-Ser==== |
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| + | *Amino acid properties: glycine is small, neutral, non-polar and hydrophilic - serine is small, neutral, polar and hydrophilic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====His-64-Asn==== |
====His-64-Asn==== |
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| + | *Amino acid properties: histidine is positively charged, polar and hydrophobic - asparagine is small, neutral, polar and hydrophilic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Ile-421-Thr==== |
====Ile-421-Thr==== |
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| + | *Amino acid properties: isoleucine is aliphatic, neutral, non-polar and hydrophobic - threonine is small, neutral, polar and hydrophobic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Lys-341-Thr==== |
====Lys-341-Thr==== |
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| + | *Amino acid properties: lysine is positively charged, polar and hydrophobic - threonine is small, neutral, polar and hydrophobic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Phe-392-Ser==== |
====Phe-392-Ser==== |
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| + | *Amino acid properties: phenylalanine is aromatic, neutral, non-polar and hydrophobic - serine is small, neutral, polar and hydrophilic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Pro-416-Gln==== |
====Pro-416-Gln==== |
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| + | *Amino acid properties: proline is small, neutral, non-polar and hydrophilic - glutamine is neutral, polar and hydrophilic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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====Thr-266-Ala==== |
====Thr-266-Ala==== |
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| + | *Amino acid properties: threonine is small, neutral, polar and hydrophobic - alanine is small, non-polar, neutral and hydrophobic |
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| − | *Amino acid properties: |
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*Mutation position: |
*Mutation position: |
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*Substitution Matrices: |
*Substitution Matrices: |
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Revision as of 11:47, 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 small, non-polar, neutral and hydrophobic - valine is small, aliphatic, non-polar, neutral 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: arginine is positively charged, hydrophilic and polar - isoleucine is aliphatic, neutral, non-polar and hydrophobic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Gln-20-Leu
- Amino acid properties: glutamine is neutral, polar and hydrophilic - leucine is aliphatic, neutral, non-polar and hydrophilic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Gly-103-Ser
- Amino acid properties: glycine is small, neutral, non-polar and hydrophilic - serine is small, neutral, polar and hydrophilic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
His-64-Asn
- Amino acid properties: histidine is positively charged, polar and hydrophobic - asparagine is small, neutral, polar and hydrophilic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Ile-421-Thr
- Amino acid properties: isoleucine is aliphatic, neutral, non-polar and hydrophobic - threonine is small, neutral, polar and hydrophobic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Lys-341-Thr
- Amino acid properties: lysine is positively charged, polar and hydrophobic - threonine is small, neutral, polar and hydrophobic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Phe-392-Ser
- Amino acid properties: phenylalanine is aromatic, neutral, non-polar and hydrophobic - serine is small, neutral, polar and hydrophilic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Pro-416-Gln
- Amino acid properties: proline is small, neutral, non-polar and hydrophilic - glutamine is neutral, polar and hydrophilic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
Thr-266-Ala
- Amino acid properties: threonine is small, neutral, polar and hydrophobic - alanine is small, non-polar, neutral and hydrophobic
- Mutation position:
- Substitution Matrices:
- PSSM:
- Mammalian homologs:
- SIFT:
- PolyPhen2:
- SNAP:
- MutationTaster:
References
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