Sequence-based mutation analysis HEXA/Mutation Summary

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)

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