Sequence-based mutation analysis HEXA/Mutation Summary

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pysicochemical properities

SNP-id mutation codon aa propensity consequences
rs4777505 Asn -> Ser polar, small, hydrophilic, negatively charged -> polar, tiny, hydrophilic, neutral Both amino acids are polar and hydrophilic. Ser is tiny, Asn therefore is a small amino acid. The biggest difference between these two amino acid is, that Asn is negatively charged and Ser is neutral. But this is not that big difference and therefore we suggest, that this mutation do not delete the structure and function of the protein.
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.
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.
rs61747114 Leu -> Phe aliphatic, hydrophobic, neutral -> aromatic, hydrophobic, neutral Leu is an aliphatic amino acid, wheras Phe is an aromatic amino acid. This means, that Phe has an aromatic ring in its structure. But both amino acids are relatively big and so it is possible, that the exchange of this amino acids do not change the structure of the protein that much. Therefore, we suggest it is possible, that the protein will work.
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.
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.
rs1800430 Asn -> Asp polar, small, hydrophilic, negatively charged -> negative charged, small, polar, hydrophilic Both amino acids have the same properities and therefore we suggest that an exchange of these two amino acids do not destroy the protein structure and 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.

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Visualisation of the mutations

SNP-id mutation codon picture original aa picture mutated aa combined picture
rs4777505 Asn -> Ser
Amino acid Asparagine
Amino acid Serine
Picture which visualize the mutation
rs121907979 Leu -> Arg
Amino acid Leucine
Amino acid Arginine
Picture which visualize the 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
rs61747114 Leu -> Phe
Amino acid Leucine
Amino acid Phenylalanine
Picture which visualize the mutation
rs1054374 Ser -> Ile
Amino acid Serine
Amino acid Isoleucine
Picture which visualize the mutation
rs121907967 Trp -> TER
Amino acid Tryptophan
Visualization of the mutated protein
rs1800430 Asn -> Asp
Amino acid Asparagine
Amino acid Aspartic acid
Picture which visualize the mutation
rs121907982 Ile -> Val
Amino acid Isoleucine
Amino acid Valin
Picture which visualize the mutation
rs121907968 Trp -> Arg
Amino acid Tryptophan
Amino acid Arginine
Picture which visualize the mutation

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Substitutions Matrices

SNP-id mutation codon PAM 1 Pam 250 BLOSOUM 62
value aa most frequent substitution rarest substitution value aa most frequent substitution rarest substitution value aa most frequent substitution rarest substitution
rs4777505 Asn -> Ser 20 36 (Asp) 0 (Cys, Met) 5 7 (Asp) 2 (Cys, Leu, Phe, Trp) 1 1 (Asp, His, Ser) -4 (Trp)
rs121907979 Leu -> Arg 1 22 (Ile) 0 (Asp, Cys) 4 20 (Met) 2 (Cys) -2 0 (Phe) -4 (Asp, Gly)
rs61731240 His -> Asp 3 20 (Gln) 0 (Ile, Met) 4 7 (Gln) 2 (Ala, Cys, Gly, Ile, Leu, Met, Phe, Thr, Trp, Val) -1 2 (Tyr) -3 (Cys, Ile, Leu, Val)
rs121907974 Phe -> Ser 2 28 (Tyr) 0 (Asp, Cys, Glu, Lys, Pro, Val) 2 20 (Tyr) 1 (Arg, Asp, Cys, Gln, Glu, Gly, Lys, Pro) -2 3 (Tyr) -4 (Pro)
rs61747114 Leu -> Phe 13 45 (Met) 0 (Asp, Cys) 13 20 (Met) 2 (Cys) 0 2 (Ile, Met) -4 (Asp, Gly)
rs1054374 Ser -> Ile 2 38 (Thr) 1 (Leu) 5 9 (Ala, Gly, Pro, Thr) 3 (Phe) -2 1 (Ala, Asn, Thr) -3 (Trp)
rs121907967 Trp -> TER X 2 (Arg) 0 (all, except Arg, Phe, Ser, Tyr) X 2 (Arg) 0 (all, except Arg, His, Leu, Phe, Ser, Tyr) X 2 (Tyr) -4 (Asn, Asp, Pro)
rs1800430 Asn -> Asp 36 36 (Asp) 0 (Cys, Met) 7 7 (Asp) 2 (Cys, Leu, Phe, Trp) 1 1 (Asp, His, Ser) -4 (Trp)
rs121907982 Ile -> Val 33 33 (Val) 0 (Gly, Pro, Trp) 9 9 (Val) 1 (Trp) 3 3 (Val) -4 (Gly)
rs121907968 Trp -> Arg 2 2 (Arg) 0 (all, except Arg, Phe, Ser, Tyr) 2 2 (Arg) 0 (all, except Arg, His, Leu, Phe, Ser, Tyr) -3 2 (Tyr) -4 (Asn, Asp, Pro)