AK2
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.22366A>G
CDS: c.494A>G
AnimoAcid: p.Asp165Gly		 Substitutions Direct sequencing Lagresle-Peyrou C et al., 2009
2 Substitutions Genomic: g.23547C>T
CDS: c.556C>T
AnimoAcid: p.Arg186Cys		 Substitutions Direct sequencing Lagresle-Peyrou C et al., 2009
3 Substitutions Genomic: g.15276C>T
CDS: c.307C>T
AnimoAcid: p.Arg103Trp		 Substitutions Direct sequencing Lagresle-Peyrou C et al., 2009
4 Substitutions Genomic: g.88G>T
CDS: c.25G>T
AnimoAcid: p.Glu9X		 Substitutions Direct sequencing Lagresle-Peyrou C et al., 2009
5 Deletion Genomic: g.12349delT
CDS: c.118delT
AnimoAcid: p.Cys40ValfsX4		 Deletion Direct sequencing Pannicke U et al., 2009
6 Substitutions Genomic: g.64A>G
CDS: c.1A>G
AnimoAcid: p.Met1Val		 Substitutions Direct sequencing Pannicke U et al., 2009
7 Substitutions Genomic: g.15430G>A
CDS: c.331-1G>A
AnimoAcid: 		Substitutions Direct sequencing Pannicke U et al., 2009
8 Deletion Genomic: g.22325delC
CDS: c.453delC
AnimoAcid: p.Tyr152ThrfsX11		 Deletion Direct sequencing Pannicke U et al., 2009
9 Substitutions Genomic: g.22371G>A
CDS: c.498+1G>A
AnimoAcid: 		Substitutions Direct sequencing Pannicke U et al., 2009
10 Deletion Genomic: g.12325_12450del
CDS: c.94_219del
AnimoAcid: p.Ala32_Leu73del		 Deletion Direct sequencing Lagresle-Peyrou C et al., 2009