Difference between revisions of "Sequence-based mutation analysis (Phenylketonuria)"

Revision as of 15:08, 25 June 2013

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For the generation of the mutation dataset the following five SNPs from the HGMD database were used: <figtable id="mutds">

Missense mutations (SNPs) from HGMD
Accession Number	Codon change	Amino acid change	Codon number	Reference
CM000542	CAG-CTG	Gln-Leu	20	Hennermann (2000) Hum Mutat 15, 254
CM045080	tGGT-AGT	Gly-Ser	103	Lee (2004) J Hum Genet 49, 617
CM910286	GCC-GTC	Ala-Val	259	Labrune (1991) Am J Hum Genet 48, 1115
CM087278	ACAa-ACG	Thr-Thr	323	Ho (2008) Biochem Biophys Res Commun 373, 515
CM090791	CCA-CAA	Pro-Gln	416	Dobrowolski (2009) J Inherit Metab Dis 32, 10

</figtable>

Furthermore, the following five mutations from dbSNP were added: <figtable id="mutds">

Missense mutations (SNPs) from dbSNP
Reference SNP	Position	Length	Codon change
rs199475638	51	101	A-G
rs2037639	101	201	A-G
rs188801585	201	401	G-T
rs7970760	305	680	C-G
rs1568791	467	737	C-T

</figtable>

@@ Line 34: / Line 34: @@
 ! colspan="5" style="background:#228B22;" | Missense mutations (SNPs) from dbSNP
 |-
-! style="background:#32CD32;" | Accession Number
+! style="background:#32CD32;" | Reference SNP
-! style="background:#32CD32;" | rs2
 ! style="background:#32CD32;" | Position
 ! style="background:#32CD32;" | Length
 ! style="background:#32CD32;" | Codon change
 |-
-| rs199475638 || rs=199475638 || 51 || 101 || A-G
+| rs199475638 || 51 || 101 || A-G
 |-
-| rs2037639 || rs=2037639 || 101 || 201 || A-G
+| rs2037639 || 101 || 201 || A-G
 |-
-| rs188801585 || rs=188801585 || 201 || 401 || G-T
+| rs188801585 || 201 || 401 || G-T
 |-
-| rs7970760 || rs=7970760 || 305 || 680 || C-G
+| rs7970760 || 305 || 680 || C-G
 |-
-| rs1568791 || rs=1568791 || 467 || 737 || C-T
+| rs1568791 || 467 || 737 || C-T
 |}
 </figtable>