Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"
From Bioinformatikpedia
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− | == Sequence-based mutation analysis == |
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[[Lab Journal - Task 8 (PAH) #Sequence-based mutation analysis |Lab journal]] <br> |
[[Lab Journal - Task 8 (PAH) #Sequence-based mutation analysis |Lab journal]] <br> |
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− | + | == Mutation dataset == |
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− | + | ==Analyze SNPs== |
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− | + | ===Ala-259-Val=== |
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*Amino acid properties: alanine is small, non-polar, neutral and hydrophobic - valine is small, aliphatic, non-polar, neutral and hydrophobic |
*Amino acid properties: alanine is small, non-polar, neutral and hydrophobic - valine is small, aliphatic, non-polar, neutral and hydrophobic |
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*Mutation position: ... |
*Mutation position: ... |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===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 |
*Amino acid properties: arginine is positively charged, hydrophilic and polar - isoleucine is aliphatic, neutral, non-polar and hydrophobic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===Gln-20-Leu=== |
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*Amino acid properties: glutamine is neutral, polar and hydrophilic - leucine is aliphatic, neutral, non-polar and hydrophilic |
*Amino acid properties: glutamine is neutral, polar and hydrophilic - leucine is aliphatic, neutral, non-polar and hydrophilic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===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 |
*Amino acid properties: glycine is small, neutral, non-polar and hydrophilic - serine is small, neutral, polar and hydrophilic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===His-64-Asn=== |
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*Amino acid properties: histidine is positively charged, polar and hydrophobic - asparagine is small, neutral, polar and hydrophilic |
*Amino acid properties: histidine is positively charged, polar and hydrophobic - asparagine is small, neutral, polar and hydrophilic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===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 |
*Amino acid properties: isoleucine is aliphatic, neutral, non-polar and hydrophobic - threonine is small, neutral, polar and hydrophobic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===Lys-341-Thr=== |
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*Amino acid properties: lysine is positively charged, polar and hydrophobic - threonine is small, neutral, polar and hydrophobic |
*Amino acid properties: lysine is positively charged, polar and hydrophobic - threonine is small, neutral, polar and hydrophobic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===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 |
*Amino acid properties: phenylalanine is aromatic, neutral, non-polar and hydrophobic - serine is small, neutral, polar and hydrophilic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===Pro-416-Gln=== |
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*Amino acid properties: proline is small, neutral, non-polar and hydrophilic - glutamine is neutral, polar and hydrophilic |
*Amino acid properties: proline is small, neutral, non-polar and hydrophilic - glutamine is neutral, polar and hydrophilic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | ===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 |
*Amino acid properties: threonine is small, neutral, polar and hydrophobic - alanine is small, non-polar, neutral and hydrophobic |
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*Mutation position: |
*Mutation position: |
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*MutationTaster: disease causing |
*MutationTaster: disease causing |
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− | + | == Prediction == |
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Revision as of 14:26, 27 June 2013
Contents
Summary
...
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 |
Analyze SNPs
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: HELIX
- Substitution Matrices: middle ranged value -> neutral substitution
- PSSM: ...
- Mammalian homologs: ...
- SIFT: TOLERATED with a score of 0.16
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster: disease causing
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: low value -> bad substitution
- Structure: LOOP
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00
- PolyPhen2: possibly damaging
- SNAP:
- MutationTaster: disease causing
Gln-20-Leu
- Amino acid properties: glutamine is neutral, polar and hydrophilic - leucine is aliphatic, neutral, non-polar and hydrophilic
- Mutation position:
- Substitution Matrices: low value -> bad substitution
- Structure: LOOP
- PSSM:
- Mammalian homologs:
- SIFT: TOLERATED with a score of 0.90
- PolyPhen2: benign
- SNAP:
- MutationTaster: disease causing
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: middle ranged value -> neutral substitution
- Structure: HELIX
- PSSM:
- Mammalian homologs:
- SIFT: TOLERATED with a score of 0.05
- PolyPhen2: benign
- SNAP:
- MutationTaster: disease causing
His-64-Asn
- Amino acid properties: histidine is positively charged, polar and hydrophobic - asparagine is small, neutral, polar and hydrophilic
- Mutation position:
- Substitution Matrices: middle ranged value -> neutral substitution
- Structure: STRAND
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster: disease causing
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: low value for Blosum62, middle ranged value for PAM1/250 -> bad or neutral substitution
- Structure: STRAND
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
- PolyPhen2: probably damaging/possibly damaging
- SNAP:
- MutationTaster: disease causing
Lys-341-Thr
- Amino acid properties: lysine is positively charged, polar and hydrophobic - threonine is small, neutral, polar and hydrophobic
- Mutation position:
- Substitution Matrices: low value for Blosum62, middle ranged value for PAM1/250 -> bad or neutral substitution
- Structure: STRAND
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster: disease causing
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: low value -> bad substitution
- Structure: HELIX
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster: disease causing
Pro-416-Gln
- Amino acid properties: proline is small, neutral, non-polar and hydrophilic - glutamine is neutral, polar and hydrophilic
- Mutation position:
- Substitution Matrices: low value -> bad substitution
- Structure: LOOP
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster: disease causing
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: middle ranged value for Blosum62 and high value for PAM1(TODOPAM250: 11 neutral/high?) -> neutral or good substituion
- Structure: HELIX(ReProf)/LOOP(PsiPred)
- PSSM:
- Mammalian homologs:
- SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
- PolyPhen2: probably damaging
- SNAP:
- MutationTaster: disease causing
Prediction
SNP-Prediction | ||
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SNP | Prediction | Validation |
Ala259Val | ||
Arg123Ile | ||
Gln20Leu | ||
Gly103Ser | ||
His64Asn | ||
Ile421Thr | ||
Lys341Thr | ||
Phe392Ser | ||
Pro416Gln | ||
Thr266Ala |
References
<references/>