F12
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.5346C>G
CDS: c.983C>G
AnimoAcid: p.Thr328Arg		 Substitutions Direct sequencing Dewald G et al., 2006
2 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions Direct sequencing Dewald G et al., 2006
3 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions Direct sequencing Martin L et al., 2007
4 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions Direct sequencing Bell CG et al., 2008
5 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions Direct sequencing Prieto A et al., 2009
6 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions NA Nagy N et al., 2009
7 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions Direct sequencing Bork K 2009
8 Substitutions Genomic: g.5346C>G
CDS: c.983C>G
AnimoAcid: p.Thr328Arg		 Substitutions Direct sequencing Bork K 2009
9 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions Direct sequencing Picone O et al., 2010
10 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions NA Baeza ML et al., 2011
11 Substitutions Genomic: g.5346C>A
CDS: c.983C>A
AnimoAcid: p.Thr328Lys		 Substitutions NA Cichon S et al., 2006