Difference between revisions of "Seq.-based mut. analysis HEXA"

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== Mutations ==
 
 
{| border="1" style="text-align:center; border-spacing:0;"
 
|SNP-id
 
|codon number
 
|mutation codon
 
|mutation triplet
 
|aa propensity
 
|consequences
 
|-
 
|rs1800428
 
|3
 
|Ser -> Ser
 
|AGC -> AGT
 
|polar, tiny, hydroxylic -> polar, tiny, hydroxylic
 
|
 
|-
 
|rs121907979
 
|39
 
|Leu -> Arg
 
|CTT -> CGT
 
|aliphatic, hydrophobic -> positive charged, polar
 
|
 
|-
 
|rs11551324
 
|109
 
|Thr -> Thr
 
|ACC -> ACT
 
||polar, small, hydroxylic, hydrophobic -> polar, small, hydroxylic, hydrophobic
 
|
 
|-
 
|rs61731240
 
|179
 
|His -> Asp
 
|CAT -> GAT
 
|positive charged, polar -> negative charged, small, polar
 
|
 
|-
 
|rs121907974
 
|211
 
|Phe -> Ser
 
|TTC -> TCC
 
|aromatic, hydrophobic -> polar, tiny, hydroxylic
 
|
 
|-
 
|rs1054374
 
|293
 
|Ser -> Ile
 
|AGT -> ATT
 
|polar, tiny, hydroxylic -> aliphatic, hydrophobic
 
|
 
|-
 
|rs121907967
 
|329
 
|Trp -> TER
 
|TGG -> TAG
 
|aromatic, polar, hydrophobic -> TER
 
|
 
|-
 
|rs121907982
 
|456
 
|Tyr -> Ser
 
|TAT -> TCT
 
|aromatic, polar, hydrophobic -> polar, tiny, hydroxylic
 
|
 
|-
 
|rs121907968
 
|485
 
|Trp -> Arg
 
|gTGG -> CGG
 
|aromatic, polar, hydrophobic -> positive charged, polar
 
|
 
|-
 
|rs4777502
 
|506
 
|Glu -> Glu
 
|GAG -> GAA
 
|negative charted, polar -> negative charged, polar
 
|
 
|-
 
|}
 

Latest revision as of 15:37, 21 June 2011