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

From Bioinformatikpedia
(Mutations)
(Mutations)
Line 27: Line 27:
 
|Thr -> Thr
 
|Thr -> Thr
 
|ACC -> ACT
 
|ACC -> ACT
||polar, small, hydroxylic, hydrophobic -> polar, small, hydroxylic, hydrophobic
+
|polar, small, hydroxylic, hydrophobic -> polar, small, hydroxylic, hydrophobic
  +
|no consequences -> silent mutation
|
 
 
|-
 
|-
 
|rs61731240
 
|rs61731240
Line 34: Line 34:
 
|His -> Asp
 
|His -> Asp
 
|CAT -> GAT
 
|CAT -> GAT
|positive charged, polar -> negative charged, small, polar
+
|aromatic, positive charged, polar -> negative charged, small, polar
  +
|On the one side, both amino acids are polar, but on the other side, His is positively charged, while Asp is negatively charged, which is an essential difference between these both amino acids. Therefore it is very likely, that this change causes big changes in the structure of the protein and the protein therefore will probably not work any longer. Furthermore, the structure of the two amino acids is very different, because of the aromatic ring of the His.
|
 
 
|-
 
|-
 
|rs121907974
 
|rs121907974

Revision as of 14:01, 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 no consequences -> silent mutation
rs61731240 179 His -> Asp CAT -> GAT aromatic, positive charged, polar -> negative charged, small, polar On the one side, both amino acids are polar, but on the other side, His is positively charged, while Asp is negatively charged, which is an essential difference between these both amino acids. Therefore it is very likely, that this change causes big changes in the structure of the protein and the protein therefore will probably not work any longer. Furthermore, the structure of the two amino acids is very different, because of the aromatic ring of the His.
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