NHEJ1
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.2672C>G
CDS: c.169C>G
AnimoAcid: p.Arg57Gly
Substitutions Direct sequencing Buck D et al., 2006
2 Substitutions Genomic: g.3371T>C
CDS: c.367T>C
AnimoAcid: p.Cys123Arg
Substitutions Direct sequencing Buck D et al., 2006
3 Substitutions Genomic: g.14130C>T
CDS: c.532C>T
AnimoAcid: p.Arg178X
Substitutions Direct sequencing Buck D et al., 2006
4 Deletion Genomic: g.2680delG
CDS: c.177delG
AnimoAcid: p.Lys59fs
Deletion Direct sequencing Buck D et al., 2006
5 Substitutions Genomic: g.2683A>T
CDS: c.177+3A>T
AnimoAcid:
Substitutions Direct sequencing Buck D et al., 2006
6 Duplications Genomic: g.2514dupT
CDS: c.11dupT
AnimoAcid: p.Leu4fs
Duplications Direct sequencing Ahnesorg P et al., 2006
7 Substitutions Genomic: g.2672C>G
CDS: c.169C>G
AnimoAcid: p.Arg57Gly
Substitutions Direct sequencing, PCR based assay Dutrannoy V et al., 2010
8 Duplications Genomic: g.13175dupA
CDS: c.495dupA
AnimoAcid: p.Asp166ArgfsX20
Duplications Direct sequencing, PCR based assay Dutrannoy V et al., 2010
9 Deletion Genomic: g.(2504-?)_3394+?del1884
CDS: c.(1-?)_390+?del
AnimoAcid:
Deletion Direct sequencing, PCR based assay Dutrannoy V et al., 2010
10 Deletion Genomic: g.(1-?)_3394+?del6954
CDS: c.(1-?)_390+?del
AnimoAcid:
Deletion Direct sequencing, PCR based assay Dutrannoy V et al., 2010
11 Substitutions Genomic: g.13206C>T
CDS: c.526C>T
AnimoAcid: p.Arg176X
Substitutions Direct sequencing, PCR based assay Dutrannoy V et al., 2010
12 Substitutions Genomic: g.14130C>T
CDS: c.532C>T
AnimoAcid: p.Arg178X
Substitutions Direct sequencing, PCR based assay Dutrannoy V et al., 2010
13 Substitutions Genomic: g.14130C>T
CDS: c.532C>T
AnimoAcid: p.Arg178X
Substitutions Direct sequencing Turul T et al., 2011