CXCR4
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.3228C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334X		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Hernandez PA et al., 2003
2 Substitutions Genomic: g.3255G>T
CDS: c.1027G>T
AnimoAcid: p.Glu343X		 Substitutions Direct sequencing, PCR based assay, Restriction enzyme analysis Hernandez PA et al., 2003
3 Deletion Genomic: g.3244_3245delCT
CDS: c.1016_1017delCT
AnimoAcid: p.Ser339CysfsX4		 Deletion Direct sequencing, PCR based assay, Restriction enzyme analysis Hernandez PA et al., 2003
4 Substitutions Genomic: g.3241C>G
CDS: c.1013C>G
AnimoAcid: p.Ser338X		 Substitutions Direct sequencing Balabanian K et al., 2005
5 Substitutions Genomic: g.3228C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334X		 Substitutions Direct sequencing Gulino AV et al., 2004
6 Substitutions Genomic: g.3234G>T
CDS: c.1006G>T
AnimoAcid: p.Gly336X		 Substitutions Direct sequencing Gulino AV et al., 2004
7 Substitutions Genomic: g.3228C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334X		 Substitutions Direct sequencing, Restriction enzyme analysis Tarzi MD et al., 2005
8 Substitutions Genomic: g.3241C>G
CDS: c.1013C>G
AnimoAcid: p.Ser338X		 Substitutions Direct sequencing Alapi K et al., 2007
9 Deletion Genomic: g.3244_3245delCT
CDS: c.1016_1017delCT
AnimoAcid: p.Ser339CysfsX4		 Deletion Direct sequencing Sanmun D et al., 2006
10 Substitutions Genomic: g.3228C>T
CDS: c.1000C>T
AnimoAcid: p.Arg334X		 Substitutions Direct sequencing Taniuchi S et al., 2005
11 Substitutions Genomic: g.3255G>A
CDS: c.1027G>A
AnimoAcid: p.Glu343Lys		 Substitutions Sanger Sequencing Liu Q et al., 2012