IL7R
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.16591G>A
CDS: c.538-1G>A
AnimoAcid: 		Substitutions Direct sequencing Puel A et al., 1998
2 Substitutions Genomic: g.16705G>A
CDS: c.651G>A
AnimoAcid: p.Trp217X		 Substitutions Direct sequencing Puel A et al., 1998
3 Substitutions Genomic: g.14182C>T
CDS: c.394C>T
AnimoAcid: p.Pro132Ser		 Substitutions Direct sequencing Roifman CM et al., 2000
4 Substitutions Genomic: g.16670C>T
CDS: c.616C>T
AnimoAcid: p.Arg206X		 Substitutions Fluorescent sequencing Jo EK et al., 2004
5 Substitutions Genomic: g.16698G>T
CDS: c.644G>T
AnimoAcid: p.Gly215Val		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
6 Substitutions Genomic: g.16716G>T
CDS: c.662G>T
AnimoAcid: p.Ser221Ile		 Substitutions Dideoxy fingerprinting Lebet T et al., 2008
7 Substitutions Genomic: g.10549G>A
CDS: c.353G>A
AnimoAcid: p.Cys118Tyr		 Substitutions Direct sequencing Giliani S et al., 2006
8 Substitutions Genomic: g.14326G>A
CDS: c.537+1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Zhang ZY et al., 2009
9 Substitutions Genomic: g.16670C>T
CDS: c.616C>T
AnimoAcid: p.Arg206X		 Substitutions Direct sequencing, PCR based assay Zhang ZY et al., 2009
10 Substitutions Genomic: g.16670C>T
CDS: c.616C>T
AnimoAcid: p.Arg206X		 Substitutions Direct sequencing, PCR based assay Yu GP et al., 2011