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

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== Mutations ==
 
 
{| border="1" style="text-align:center; border-spacing:0;"
 
|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
 
|
 
|-
 
|}
 

Latest revision as of 15:37, 21 June 2011