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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− | | |
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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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− | | |
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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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− | |} |