LIG4
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.7108C>T
CDS: c.8C>T
AnimoAcid: p.Ala3Val		 Substitutions Fluorescent sequencing O Driscoll M et al., 2001
2 Substitutions Genomic: g.7126C>T
CDS: c.26C>T
AnimoAcid: p.Thr9Val		 Substitutions Fluorescent sequencing O Driscoll M et al., 2001
3 Substitutions Genomic: g.7933G>A
CDS: c.833G>A
AnimoAcid: p.Arg278His		 Substitutions Fluorescent sequencing O Driscoll M et al., 2001
4 Substitutions Genomic: g.8838C>T
CDS: c.1738C>T
AnimoAcid: p.Arg580X		 Substitutions Fluorescent sequencing O Driscoll M et al., 2001
5 Substitutions Genomic: g.9540C>T
CDS: c.2440C>T
AnimoAcid: p.Arg814X		 Substitutions Fluorescent sequencing O Driscoll M et al., 2001
6 Substitutions Genomic: g.9540C>T
CDS: c.2440C>T
AnimoAcid: p.Arg814X		 Substitutions Fluorescent sequencing Ben-Omran TI et al., 2005
7 Deletion Genomic: g.8397_8399delCAA
CDS: c.1297_1299delCAA
AnimoAcid: p.Gln433del		 Deletion Fluorescent sequencing van der Burg M et al., 2006
8 Substitutions Genomic: g.7939A>G
CDS: c.839A>G
AnimoAcid: p.Gln280Arg		 Substitutions Direct sequencing Buck D et al., 2006
9 Deletion Genomic: g.8371_8375delAAAGA
CDS: c.1271_1275delAAAGA
AnimoAcid: p.Lys424fs		 Deletion Direct sequencing Buck D et al., 2006
10 Substitutions Genomic: g.7945A>T
CDS: c.845A>T
AnimoAcid: p.His282Leu		 Substitutions Fluorescent sequencing Enders A et al., 2006
11 Deletion Genomic: g.8371_8375delAAAGA
CDS: c.1271_1275delAAAGA
AnimoAcid: p.Lys424fs		 Deletion Fluorescent sequencing Enders A et al., 2006
12 Deletion Genomic: g.8370_8374delAAAAG
CDS: c.1270_1274delAAAAG
AnimoAcid: p.Lys424fs		 Deletion Direct sequencing Toita N et al., 2007
13 Substitutions Genomic: g.7845A>G
CDS: c.745A>G
AnimoAcid: p.Met249Val		 Substitutions Direct sequencing Toita N et al., 2007
14 Substitutions Genomic: g.8506G>A
CDS: c.1406G>A
AnimoAcid: p.Gly469Glu		 Substitutions Fluorescent sequencing O Driscoll M et al., 2001
15 Substitutions Genomic: g.7945A>T
CDS: c.845A>T
AnimoAcid: p.His282Leu		 Substitutions Direct sequencing Grunebaum E et al., 2008
16 Deletion Genomic: g.8846_8850delAAAGA
CDS: c.1746_1750delAAAGA
AnimoAcid: p.Glu582AspfsX4		 Deletion Direct sequencing Grunebaum E et al., 2008