Sequence-based mutation analysis HEXA

Mutations

SNP-id	codon number	mutation codon	mutation triplet
rs4777505	29	Asn -> Ser	AAC -> AGC
rs121907979	39	Leu -> Arg	CTT -> CGT
rs61731240	179	His -> Asp	CAT -> GAT
rs121907974	211	Phe -> Ser	TTC -> TCC
rs61747114	248	Leu -> Phe	CTT -> TTT
rs1054374	293	Ser -> Ile	AGT -> ATT
rs121907967	329	Trp -> TER	TGG -> TAG
rs1800430	399	Asn -> Asp	AAC -> GAC
rs121907982	436	Ile -> Val	ATA -> GTA
rs121907968	485	Trp -> Arg	gTGG -> CGG

Analysis of the mutations

We created for each mutation an extra page. The summary of the analysis can be seen in the Summary Section.

• [rs4777505: Asn -> Ser]

• [rs121907979: Leu -> Arg]

• [rs61731240: His -> Asp]

• [rs121907974: Phe -> Ser]

• [rs61747114: Leu -> Phe]

• [rs1054374: Ser -> Ile]

• [rs121907967: Trp -> TER]

• [rs1800430: Asn -> Asp]

• [rs121907982: Ile -> Val]

• [rs121907968: Trp -> Arg]

Summary page

method	mutations
	Asn -> Ser (rs4777505)	Leu -> Arg (rs121907979)	His -> Asp (rs61731240)	Phe -> Ser (rs121907974)	Leu -> Phe (rs61747114)	Ser -> Ile (rs1054374)	Trp -> TER (rs121907967)	Asn -> Asp (rs1800430)	Ile -> Val (rs121907982)	Trp -> Arg (rs121907968)
pysiochemical properitites	neutral	non-neutral	non-neutral	non-neutral	neutral	non-neutral	non-neutral	neutral	neutral	non-neutral
visuale analysis	todo	non-neutral	non-neutral	non-neutral	todo	neutral	non-neutral	todo	neutral	non-neutral
PAM1	neutral	non-neutral	non-neutral	non-neutral	no statement	non-neutral	no information	neutral	neutral	neutral
PAM250	neutral	non-neutral	no statement	non-neutral	no statement	no statement	no information	neutral	neutral	neutral
BLOSUM62	neutral	no statement	no statement	non-neutral	neutral	non-neutral	no information	neutral	neutral	non-neutral
multiple alignment	neutral	neutral	non-neutral	non-neutral	non-neutral	neutral	neutral	neutral	neutral	non-neutral
analysis with Jpred	non-neutral	non-neutral	neutral	neutral	neutral	neutral	neutral	neutral	neutral	neutral
analysis with PsiPred	non-neutral	non-neutral	neutral	neutral	neutral	neutral	neutral	non-neutral	neutral	neutral
analysis with real structure	non-neutral	no statement	neutral	neutral	non-neutral	neutral	non-neutral	no statement	non-neutral	non-neutral
SNAP Prediction	neutral	non-neutral	non-neutral	non-neutral	neutral	neutral	no information	neutral	neutral	non-neutral
SIFT Prediction	neutral	non-neutral	non-neutral	non-neutral	neutral	neutral	no information	neutral	neutral	non-neutral
PolyPhen2 Prediction	neutral	non-neutral	non-neutral	non-neutral	neutral	neutral	no information	neutral	neutral	non-neutral