Difference between revisions of "Seq.-based mut. analysis HEXA"
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| − | == Mutations == |
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| − | |||
| − | {| border="1" style="text-align:center; border-spacing:0;" |
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| − | |SNP-id |
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| − | |codon number |
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| − | |mutation codon |
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| − | |mutation triplet |
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| − | |aa propensity |
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| − | |consequences |
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| − | |- |
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| − | |rs1800428 |
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| − | |3 |
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| − | |Ser -> Ser |
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| − | |AGC -> AGT |
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| − | |polar, tiny, hydroxylic -> polar, tiny, hydroxylic |
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| − | |no consequences -> silent mutation |
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| − | |- |
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| − | |rs121907979 |
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| − | |39 |
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| − | |Leu -> Arg |
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| − | |CTT -> CGT |
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| − | |aliphatic, hydrophobic -> positive charged, polar |
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| − | |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. |
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| − | |- |
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| − | |rs11551324 |
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| − | |109 |
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| − | |Thr -> Thr |
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| − | |ACC -> ACT |
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| − | ||polar, small, hydroxylic, hydrophobic -> polar, small, hydroxylic, hydrophobic |
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| − | | |
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| − | |- |
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| − | |rs61731240 |
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| − | |179 |
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| − | |His -> Asp |
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| − | |CAT -> GAT |
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| − | |positive charged, polar -> negative charged, small, polar |
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| − | | |
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| − | |- |
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| − | |rs121907974 |
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| − | |211 |
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| − | |Phe -> Ser |
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| − | |TTC -> TCC |
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| − | |aromatic, hydrophobic -> polar, tiny, hydroxylic |
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| − | | |
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| − | |- |
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| − | |rs1054374 |
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| − | |293 |
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| − | |Ser -> Ile |
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| − | |AGT -> ATT |
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| − | |polar, tiny, hydroxylic -> aliphatic, hydrophobic |
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| − | | |
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| − | |- |
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| − | |rs121907967 |
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| − | |329 |
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| − | |Trp -> TER |
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| − | |TGG -> TAG |
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| − | |aromatic, polar, hydrophobic -> TER |
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| − | | |
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| − | |- |
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| − | |rs121907982 |
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| − | |456 |
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| − | |Tyr -> Ser |
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| − | |TAT -> TCT |
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| − | |aromatic, polar, hydrophobic -> polar, tiny, hydroxylic |
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| − | | |
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| − | |- |
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| − | |rs121907968 |
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| − | |485 |
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| − | |Trp -> Arg |
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| − | |gTGG -> CGG |
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| − | |aromatic, polar, hydrophobic -> positive charged, polar |
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| − | | |
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| − | |- |
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| − | |rs4777502 |
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| − | |506 |
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| − | |Glu -> Glu |
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| − | |GAG -> GAA |
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| − | |negative charted, polar -> negative charged, polar |
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| − | | |
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| − | |- |
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| − | |} |
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