Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"

From Bioinformatikpedia
(Ala-259-Val)
(Investigate the mutations)
Line 45: Line 45:
 
*PolyPhen2: probably damaging
 
*PolyPhen2: probably damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Arg-123-Ile====
 
====Arg-123-Ile====
Line 53: Line 53:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: possibly damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Gln-20-Leu====
 
====Gln-20-Leu====
Line 64: Line 64:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: TOLERATED with a score of 0.90
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: benign
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Gly-103-Ser====
 
====Gly-103-Ser====
Line 75: Line 75:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: TOLERATED with a score of 0.05
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: benign
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====His-64-Asn====
 
====His-64-Asn====
Line 86: Line 86:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: probably damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Ile-421-Thr====
 
====Ile-421-Thr====
Line 97: Line 97:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: probably damaging/possibly damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Lys-341-Thr====
 
====Lys-341-Thr====
Line 108: Line 108:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: probably damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Phe-392-Ser====
 
====Phe-392-Ser====
Line 119: Line 119:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: probably damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Pro-416-Gln====
 
====Pro-416-Gln====
Line 130: Line 130:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: probably damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
====Thr-266-Ala====
 
====Thr-266-Ala====
Line 141: Line 141:
 
*PSSM:
 
*PSSM:
 
*Mammalian homologs:
 
*Mammalian homologs:
  +
*SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
*SIFT:
 
*PolyPhen2:
+
*PolyPhen2: probably damaging
 
*SNAP:
 
*SNAP:
*MutationTaster:
+
*MutationTaster: disease causing
   
 
== References ==
 
== References ==

Revision as of 11:52, 27 June 2013

Summary

...

Sequence-based mutation analysis

Lab journal

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: 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:
  • 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:
  • 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:
  • 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:
  • 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:
  • 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:
  • 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:
  • 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:
  • 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:
  • PSSM:
  • Mammalian homologs:
  • SIFT: AFFECT PROTEIN FUNCTION with a score of 0.00.
  • PolyPhen2: probably damaging
  • SNAP:
  • MutationTaster: disease causing

References

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