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=== Visualisation of the mutations === {| border="1" style="text-align:center; border-spacing:0;" |SNP-id |mutation codon |picture original aa |picture mutated aa |combined picture |- |rs4777505 |Asn -> Ser |[[Image:N29_2.png|thumb|150px|Amino acid Asparagine]] |[[Image:29S_2.png|thumb|150px|Amino acid Serine]] |[[Image:N29S.png|thumb|150px|Picture which visualize the mutation]] |- |rs121907979 |Leu -> Arg |[[Image:L39.png|thumb|150px|Amino acid Leucine]] |[[Image:39R.png|thumb|150px|Amino acid Arginine]] |[[Image:L39R.png|thumb|150px|Picture which visualize the mutation]] |- |rs61731240 |His -> Asp |[[Image:H179.png|thumb|150px|Amino acid Histidine]] |[[Image:179D.png|thumb|150px|Amino acid Aspartate]] |[[Image:H179D.png|thumb|150px|Picture which visualize the mutation]] |- |rs121907974 |Phe -> Ser |[[Image:F211.png|thumb|150px|Amino acid Phenylalanine]] |[[Image:211S.png|thumb|150px|Amino acid Serine]] |[[Image:F211S.png|thumb|150px|Picture which visualize the mutation]] |- |rs61747114 |Leu -> Phe |[[Image:L248.png|thumb|150px|Amino acid Leucine]] |[[Image:248W.png|thumb|150px|Amino acid Phenylalanine]] |[[Image:L248W.png|thumb|150px|Picture which visualize the mutation]] |- |rs1054374 |Ser -> Ile |[[Image:S293.png|thumb|150px|Amino acid Serine]] |[[Image:293I.png|thumb|150px|Amino acid Isoleucine]] |[[Image:S293I.png|thumb|150px|Picture which visualize the mutation]] |- |rs121907967 |Trp -> TER |[[Image:W329.png|thumb|150px|Amino acid Tryptophan]] | |[[Image:prot_ter.png|thumb|150px|Visualization of the mutated protein]] |- |rs1800430 |Asn -> Asp |[[Image:N399.png|thumb|150px|Amino acid Asparagine]] |[[Image:399D.png|thumb|150px|Amino acid Aspartic acid]] |[[Image:N399D.png|thumb|150px|Picture which visualize the mutation]] |- |rs121907982 |Ile -> Val |[[Image:I436.png|thumb|150px|Amino acid Isoleucine]] |[[Image:436V.png|thumb|150px|Amino acid Valin]] |[[Image:I436V.png|thumb|150px|Picture which visualize the mutation]] |- |rs121907968 |Trp -> Arg |[[Image:W485.png|thumb|150px|Amino acid Tryptophan]] |[[Image:485R.png|thumb|150px|Amino acid Arginine]] |[[Image:W485R.png|thumb|150px|Picture which visualize the mutation]] |- |} [[http://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php/Sequence-based_mutation_analysis_HEXA#Summary_page Back to Sequence-based mutation analysis]] === Substitutions Matrices === {| border="1" style="text-align:center; border-spacing:0;" |rowspan="2" | SNP-id |rowspan="2" | mutation codon |colspan="3" | PAM 1 |colspan="3" | Pam 250 |colspan="3" | 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) |- |} [[http://i12r-studfilesrv.informatik.tu-muenchen.de/wiki/index.php/Sequence-based_mutation_analysis_HEXA#Summary_page Back to Sequence-based mutation analysis]]

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