Sequence-based mutation analysis HEXA

Mutations

SNP-id	codon number	mutation codon	mutation triplet
rs121907979	39	Leu -> Arg	CTT -> CGT
rs11551324	109	Thr -> Thr	ACC -> ACT
rs61731240	179	His -> Asp	CAT -> GAT
rs121907974	211	Phe -> Ser	TTC -> TCC
rs1054374	293	Ser -> Ile	AGT -> ATT
rs28942072	324	Val -> Val	GTT -> GTA
rs121907967	329	Trp -> TER	TGG -> TAG
rs121907982	436	Ile -> Val	ATA -> GTA
rs121907968	485	Trp -> Arg	gTGG -> CGG
rs4777502	506	Glu -> Glu	GAG -> GAA

pysicochemical properities

SNP-id	mutation codon	aa propensity	consequences
rs121907979	Leu -> Arg	aliphatic, hydrophobic, neutral -> positive charged, polar, hydrophilic	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. Furthermore, Leu is a hydrophobic amino acid, whereas Arg is hydrophilic. This is the complete contrary and therefore we suggest, that the protein will not function any longer.
rs11551324	Thr -> Thr	polar, small, hydrophilic, neutral -> polar, small, hydrophilic, neutral	no consequences -> silent mutation
rs61731240	His -> Asp	aromatic, positive charged, polar, hydrophilic -> negative charged, small, polar, hydrophilic	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	Phe -> Ser	aromatic, hydrophobic, neutral -> polar, tiny, hydrophilic, neutral	Phe is much bigger than Ser and also contains an aromatic ring. Furthermore, Phe is hydrophobic, whereas Ser is hydrophilic. Because of this, the structure of the protein will change surely and we suggest, that the protein will not work any longer.
rs1054374	Ser -> Ile	polar, tiny, hydrophilic, neutral -> aliphatic, hydrophobic, neutral	Ile is much bigger than Ser and also is branched, because it is an aliphatic amino acid. Therefore the structure of both amino acids is really different and Ile is to big for the position where Ser was. Therefore, there has to be a big change in the 3D structure of the protein and the protein probably will loose its function.
rs28942072	Val -> Val	aliphatic, hydrophobic, neutral -> aliphatic, hydrophobic, neutral	no consequences -> silent mutation
rs121907967	Trp -> TER	aromatic, polar, hydrophobic -> TER	By this change, the protein is not complete, therefore it is not possible for the protein to fold and to function.
rs121907982	Ile -> Val	aliphatic, hydrophobic, neutral -> aliphatic, hydrophobic, neutral	In this case, the pysicochemical properties are equal. Furthermore, they almost agree in their size. Therefore, we suggest, that there is no big effect on the 3D structure of the protein and therefore, also no big effect on the protein function.
rs121907968	Trp -> Arg	aromatic, polar, hydrophobic, neutral -> positive charged, polar, hydrophilic	Trp is very big, because of two aromatic rings in its structure. Furthermore, it is hydrophobic, whereas, Arg is a hydrophilic amino acid. Therefore, the changes in the 3D structure might be extreme and delete the function of the protein.
rs4777502	Glu -> Glu	negative charged, polar, hydrophilic -> negative charged, polar, hydrophilic	no consequences -> silent mutation

Visualisation of the mutations

SNP-id	mutation codon	picture original aa	picture mutated aa	combined picture
rs121907979	Leu -> Arg	Amino acid Leucine	Amino acid Arginine	Picture which visualize the mutation
rs11551324	Thr -> Thr		Visualisation of the silent mutation
rs61731240	His -> Asp	Amino acid Histidine	Amino acid Aspartate	Picture which visualize the mutation
rs121907974	Phe -> Ser	Amino acid Phenylalanine	Amino acid Serine	Picture which visualize the mutation
rs1054374	Ser -> Ile	Amino acid Serine	Amino acid Iseleucine	Picture which visualize the mutation
rs28942072	Val -> Val		Visualization of the silent mutation
rs121907967	Trp -> TER	Amino acid Tryptophan		Visualization of the mutated protein
rs121907982	Ile -> Val	Amino acid Iseleucine	Amino acid Valin	Picture which visualize the mutation
rs121907968	Trp -> Arg	Amino acid Tryptophan	Amino acid Arginine	Picture which visualize the mutation
rs4777502	Glu -> Glu		Visualization of the silent mutation