G6PC3
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.5031G>A
CDS: c.758G>A
AnimoAcid: p.Arg253His		 Substitutions Direct sequencing Boztug K et al., 2009
2 Substitutions Genomic: g.4599T>C
CDS: c.554T>C
AnimoAcid: p.Leu185Pro		 Substitutions Direct sequencing Boztug K et al., 2009
3 Substitutions Genomic: g.377C>G
CDS: c.141C>G
AnimoAcid: p.Tyr47X		 Substitutions Direct sequencing Boztug K et al., 2009
4 Substitutions Genomic: g.5057G>C
CDS: c.784G>C
AnimoAcid: p.Gly262Arg		 Substitutions Direct sequencing Boztug K et al., 2009
5 Substitutions Genomic: g.4723G>A
CDS: c.677+1G>A
AnimoAcid: 		Substitutions Direct sequencing Boztug K et al., 2009
6 Substitutions Genomic: g.5102C>T
CDS: c.829C>T
AnimoAcid: p.Gln277X		 Substitutions Direct sequencing Boztug K et al., 2009
7 Substitutions Genomic: g.5051G>C
CDS: c.778G>C
AnimoAcid: p.Gly260Arg		 Substitutions Direct sequencing Boztug K et al., 2009
8 Duplications Genomic: g.5208dupT
CDS: c.935dupT
AnimoAcid: p.Asn313fs		 Duplications Direct sequencing Boztug K et al., 2009
9 Substitutions Genomic: g.380C>A
CDS: c.144C>A
AnimoAcid: p.Tyr48X		 Substitutions Direct sequencing Boztug K et al., 2009
10 Substitutions Genomic: g.5051G>C
CDS: c.778G>C
AnimoAcid: p.Gly260Arg		 Substitutions Direct sequencing Xia J et al., 2009
11 Substitutions Genomic: g.3978C>G
CDS: c.353C>G
AnimoAcid: p.Thr118Arg		 Substitutions Direct sequencing Xia J et al., 2009
12 Substitutions Genomic: g.5051G>C
CDS: c.778G>C
AnimoAcid: p.Gly260Arg		 Substitutions Direct sequencing McDermott DH et al., 2010
13 Deletion Genomic: g.3469delA
CDS: c.257delA
AnimoAcid: p.Glu86GlyfsX31		 Deletion Direct sequencing Arostegui JI et al., 2009
14 Duplications Genomic: g.5208dupT
CDS: c.935dupT
AnimoAcid: p.Asn313fs		 Duplications Direct sequencing Alizadeh Z et al., 2011
15 Substitutions Genomic: g.4041G>T
CDS: c.416G>T
AnimoAcid: p.Ser139Ile		 Substitutions Direct sequencing Alizadeh Z et al., 2011
16 Substitutions Genomic: g.4284T>C
CDS: c.461T>C
AnimoAcid: p.Leu154Pro		 Substitutions NA Aytekin C et al., 2012