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
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: 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
<references/>