Difference between revisions of "Sequence-based mutation analysis of ARSA"

Revision as of 13:46, 21 June 2011

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 {| border="1" style="text-align:center; border-spacing:0;"
 ! SNP type
-! nucleotide (mutation)
+! mutation
-! amino acid (mutation)
-! nucleotide (reference)
-! amino acid (reference)
 ! position
-| CM042298 || cGAC-AAC || Asp-Asn || 29
+| missense || cGAC-AAC || Asp-Asn || 29
 |-
-| CM962419 || CAGg-CAC || Gln-His || 153
+| missense || CAGg-CAC || Gln-His || 153
 |-
-| CM930042 || ACG-ATG || Thr-Met || 274
+| missense || ACG-ATG || Thr-Met || 274
 |-
-| CM940112 || ACT-ATT || Thr-Ile || 409
+| missense || ACT-ATT || Thr-Ile || 409
 |-
-| CM044573 || cTGT-GGT || Cys-Gly || 489
+| missense || cTGT-GGT || Cys-Gly || 489
 |-
- | rs6151425  || synonymous  || T  || Asp [D]  || C  || Asp [D]  || 381
+ | synonymous   Asp [D]-Asp [D]  || 381
 |-
- | rs34457249  || synonymous  || T  || Pro [P]  || C  || Pro [P]  || 195
+ |  synonymous  || Pro [P]-Pro [P]  || 195
 |-
- |rs6151412  || synonymous  || T  || His [H]  || C  || His [H]  || 151
+ | synonymous  || His [H]-His [H]  || 151
 |-
- |rs6151415  || missense  || T  || Cys [C]  ||  G  || Trp [W]  || 193
+ | missense  ||  Trp [W]-Cys [C]   || 193
 |-
 |}