Seq.-based mut. analysis HEXA

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