Sequence-based mutation analysis (Phenylketonuria)

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Revision as of 09:45, 27 June 2013 by Waldraffs (talk | contribs) (→‎Investigate the mutations)

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:
  • Mutation position:
  • Substitution Matrices:
  • PSSM:
  • Mammalian homologs:
  • SIFT:
  • PolyPhen2:
  • 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

<references/>

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