Difference between revisions of "Seq.-based mut. analysis HEXA"

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(Mutations)
(Mutations)
Line 14: Line 14:
 
|AGC -> AGT
 
|AGC -> AGT
 
|polar, tiny, hydroxylic -> polar, tiny, hydroxylic
 
|polar, tiny, hydroxylic -> polar, tiny, hydroxylic
  +
|no consequences -> silent mutation
|
 
 
|-
 
|-
 
|rs121907979
 
|rs121907979
Line 21: Line 21:
 
|CTT -> CGT
 
|CTT -> CGT
 
|aliphatic, hydrophobic -> positive charged, polar
 
|aliphatic, hydrophobic -> positive charged, polar
  +
|Leucine is smaller and without a positive charge. Therefore, Arg is too big for the position of Leu, therefore, the change of Leu with Arg has to cause changes in the 3D structure of the protein. Otherwise, Leu is hydrophobic, whereas Arg is positively charged and polar, which is not a really big difference. Therefore, the change of Leu with Arg will cause changes in the protein, but it could be possible that the main function of the protein remains.
|
 
 
|-
 
|-
 
|rs11551324
 
|rs11551324

Revision as of 13:57, 21 June 2011

Mutations

SNP-id codon number mutation codon mutation triplet aa propensity consequences
rs1800428 3 Ser -> Ser AGC -> AGT polar, tiny, hydroxylic -> polar, tiny, hydroxylic no consequences -> silent mutation
rs121907979 39 Leu -> Arg CTT -> CGT aliphatic, hydrophobic -> positive charged, polar Leucine is smaller and without a positive charge. Therefore, Arg is too big for the position of Leu, therefore, the change of Leu with Arg has to cause changes in the 3D structure of the protein. Otherwise, Leu is hydrophobic, whereas Arg is positively charged and polar, which is not a really big difference. Therefore, the change of Leu with Arg will cause changes in the protein, but it could be possible that the main function of the protein remains.
rs11551324 109 Thr -> Thr ACC -> ACT polar, small, hydroxylic, hydrophobic -> polar, small, hydroxylic, hydrophobic
rs61731240 179 His -> Asp CAT -> GAT positive charged, polar -> negative charged, small, polar
rs121907974 211 Phe -> Ser TTC -> TCC aromatic, hydrophobic -> polar, tiny, hydroxylic
rs1054374 293 Ser -> Ile AGT -> ATT polar, tiny, hydroxylic -> aliphatic, hydrophobic
rs121907967 329 Trp -> TER TGG -> TAG aromatic, polar, hydrophobic -> TER
rs121907982 456 Tyr -> Ser TAT -> TCT aromatic, polar, hydrophobic -> polar, tiny, hydroxylic
rs121907968 485 Trp -> Arg gTGG -> CGG aromatic, polar, hydrophobic -> positive charged, polar
rs4777502 506 Glu -> Glu GAG -> GAA negative charted, polar -> negative charged, polar