Sequence-based mutation analysis (Phenylketonuria)

Summary

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Sequence-based mutation analysis

Lab journal

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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