FOXP3
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Deletion Genomic: g.7156_7157delTT
CDS: c.303_304delTT
AnimoAcid: p.Phe102fs		 Deletion Direct sequencing Moudgil A et al., 2007
2 Deletion Genomic: g.9334_9336delGAG
CDS: c.751_753delGAG
AnimoAcid: p.Glu251del		 Deletion Direct sequencing Li B et al., 2007
3 Substitutions Genomic: g.7274C>T
CDS: c.323C>T
AnimoAcid: p.Thr108Met		 Substitutions Direct sequencing De Benedetti F et al., 2006
4 Substitutions Genomic: g.7409A>G
CDS: c.454+4A>G
AnimoAcid: 		Substitutions Direct sequencing De Benedetti F et al., 2006
5 Substitutions Genomic: g.6320G>T
CDS: c.1-7G>T
AnimoAcid: 		Substitutions Direct sequencing Myers AK et al., 2006
6 Substitutions Genomic: g.9403A>G
CDS: c.816+4A>G
AnimoAcid: 		Substitutions PCR based assay Harbuz R et al., 2010
7 Substitutions Genomic: g.13387C>T
CDS: c.1189C>T
AnimoAcid: p.Arg397Trp		 Substitutions Direct sequencing Wildin RS et al., 2001
8 Substitutions Genomic: g.13131T>G
CDS: c.1113T>G
AnimoAcid: p.Phe371Leu		 Substitutions Direct sequencing Wildin RS et al., 2001
9 Substitutions Genomic: g.13348G>A
CDS: c.1150G>A
AnimoAcid: p.Ala384Thr		 Substitutions Direct sequencing Wildin RS et al., 2001
10 Substitutions Genomic: g.13117T>C
CDS: c.1099T>C
AnimoAcid: p.Phe367Leu		 Substitutions Direct sequencing Suzuki S et al., 2007
11 Substitutions Genomic: g.11668G>A
CDS: c.1010G>A
AnimoAcid: p.Arg337Gln		 Substitutions Direct sequencing Rubio-Cabezas O et al., 2009
12 Substitutions Genomic: g.13420G>A
CDS: c.1222G>A
AnimoAcid: p.Val408Met		 Substitutions Direct sequencing Rubio-Cabezas O et al., 2009
13 Substitutions Genomic: g.11673C>G
CDS: c.1015C>G
AnimoAcid: p.Pro339Ala		 Substitutions Southern blotting Rubio-Cabezas O et al., 2009
14 Deletion Genomic: g.7080delT
CDS: c.227delT
AnimoAcid: p.Leu76GlnfsX53		 Deletion Direct sequencing Kobayashi I et al., 2001
15 Substitutions Genomic: g.13105A>G
CDS: c.1087A>G
AnimoAcid: p.Ile363Val		 Substitutions Direct sequencing Kobayashi I et al., 2001
16 Substitutions Genomic: g.13348G>A
CDS: c.1150G>A
AnimoAcid: p.Ala384Thr		 Substitutions Fluorescent sequencing Nieves DS et al., 2004
17 Substitutions Genomic: c.*876A>G
CDS:
AnimoAcid: 		Substitutions Fluorescent sequencing, PCR based assay Bennett CL et al., 2001
18 Substitutions Genomic: g.13348G>A
CDS: c.1150G>A
AnimoAcid: p.Ala384Thr		 Substitutions Direct sequencing Bennett CL et al., 2001
19 Deletion Genomic: g.13491_13492delCT
CDS: c.1293_1294delCT
AnimoAcid: p.X432ThrextX*26		 Deletion Direct sequencing Bennett CL et al., 2001
20 Substitutions Genomic: g.7387C>T
CDS: c.436C>T
AnimoAcid: p.Arg146Trp		 Substitutions Direct sequencing Lee SM et al., 2009
21 Deletion Genomic: g.80_1468del1388
CDS:
AnimoAcid: 		Deletion Fluorescent sequencing Torgerson TR et al., 2007
22 Deletion-Insertion Genomic: g.13135_13136delTTinsGC
CDS: c.1117_1118delTTinsGC
AnimoAcid: p.Phe373Ala		 Deletion-Insertion Direct sequencing Bacchetta R et al., 2006
23 Substitutions Genomic: g.11628T>C
CDS: c.970T>C
AnimoAcid: p.Phe324Leu		 Substitutions Direct sequencing Bacchetta R et al., 2006
24 Substitutions Genomic: g.6329G>A
CDS: c.3G>A
AnimoAcid: p.Met1Ile		 Substitutions Direct sequencing Bacchetta R et al., 2006
25 Substitutions Genomic: g.6328T>C
CDS: c.2T>C
AnimoAcid: p.Met1Thr		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
26 Substitutions Genomic: g.6329G>A
CDS: c.3G>A
AnimoAcid: p.Met1Ile		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
27 Substitutions Genomic: g.6538T>G
CDS: c.210+2T>G
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
28 Substitutions Genomic: g.11630C>T
CDS: c.972C>T
AnimoAcid: p.Phe324Leu		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
29 Substitutions Genomic: g.9404G>A
CDS: c.816+5G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
30 Substitutions Genomic: g.9403A>G
CDS: c.816+4A>G
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
31 Substitutions Genomic: g.11673C>G
CDS: c.1015C>G
AnimoAcid: p.Pro339Ala		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
32 Substitutions Genomic: g.11698G>A
CDS: c.1040G>A
AnimoAcid: p.Arg347His		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
33 Substitutions Genomic: g.13348G>A
CDS: c.1150G>A
AnimoAcid: p.Ala384Thr		 Substitutions Dideoxy fingerprinting, PCR based assay Gambineri E et al., 2008
34 Substitutions Genomic: g.13139T>G
CDS: c.1121T>G
AnimoAcid: p.Phe374Cys		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
35 Substitutions Genomic: g.9103T>C
CDS: c.725T>C
AnimoAcid: p.Leu242Pro		 Substitutions Direct sequencing, PCR based assay Gambineri E et al., 2008
36 Substitutions Genomic: g.13348G>A
CDS: c.1150G>A
AnimoAcid: p.Ala384Thr		 Substitutions Direct sequencing Fuchizawa T et al., 2007
37 Substitutions Genomic: g.13348G>A
CDS: c.1150G>A
AnimoAcid: p.Ala384Thr		 Substitutions Direct sequencing d'Hennezel E et al., 2009
38 Deletion Genomic: g.7080delT
CDS: c.227delT
AnimoAcid: p.Leu76GlnfsX53		 Deletion Direct sequencing, Restriction enzyme analysis Owen CJ et al., 2003
39 Deletion-Insertion Genomic: g.6536_6537delGGinsAC
CDS: c.210_210+1delGGinsAC
AnimoAcid: p.0		 Deletion-Insertion Direct sequencing Gavin MA et al., 2006
40 Deletion Genomic: g.9334_9336delGAG
CDS: c.751_753delGAG
AnimoAcid: p.Glu251del		 Deletion Direct sequencing Gavin MA et al., 2006
41 Substitutions Genomic: g.13131T>G
CDS: c.1113T>G
AnimoAcid: p.Phe371Leu		 Substitutions Direct sequencing Halabi-Tawil M et al., 2009
42 Substitutions Genomic: g.9318G>A
CDS: c.736-1G>A
AnimoAcid: p.Leu246_Val272del		 Substitutions Direct sequencing Halabi-Tawil M et al., 2009
43 Substitutions Genomic: g.13119C>G
CDS: c.1101C>G
AnimoAcid: p.Phe367Leu		 Substitutions Direct sequencing Halabi-Tawil M et al., 2009
44 Substitutions Genomic: g.7994C>T
CDS: c.560C>T
AnimoAcid: p.Pro187Leu		 Substitutions Direct sequencing Halabi-Tawil M et al., 2009
45 Substitutions Genomic: g.13139T>G
CDS: c.1121T>G
AnimoAcid: p.Phe374Cys		 Substitutions Direct sequencing Halabi-Tawil M et al., 2009
46 Deletion Genomic: g.9334_9336delGAG
CDS: c.751_753delGAG
AnimoAcid: p.Glu251del		 Deletion Direct sequencing Halabi-Tawil M et al., 2009
47 Substitutions Genomic: g.13128G>A
CDS: c.1110G>A
AnimoAcid: p.Met370Ile		 Substitutions Direct sequencing, PCR based assay An YF et al., 2009
48 Substitutions Genomic: g.11706A>G
CDS: c.1044+4A>G
AnimoAcid: p.Glu323GlyfsX14		 Substitutions PCR based assay Chatila TA et al., 2000
49 Deletion Genomic: g.9333_9335delGGA
CDS: c.750_752delGGA
AnimoAcid: p.Glu251del		 Deletion PCR based assay Chatila TA et al., 2000
50 Insertion Genomic: g.13098_19099insA
CDS: c.1080_1081insA
AnimoAcid: p.Asn361LysfsX2		 Insertion Direct sequencing An YF et al., 2011
51 Substitutions Genomic: g.13128G>A
CDS: c.1110G>A
AnimoAcid: p.Met370Ile		 Substitutions Direct sequencing An YF et al., 2011
52 Substitutions Genomic: g.11628T>C
CDS: c.970T>C
AnimoAcid: p.Phe324Leu		 Substitutions Direct sequencing An YF et al., 2011
53 Substitutions Genomic: g.11698G>A
CDS: c.1040G>A
AnimoAcid: p.Arg347His		 Substitutions Direct sequencing Wildin RS et al., 2002
54 Deletion Genomic: g.9331_9333delAAG
CDS: c.748_750delAAG
AnimoAcid: p.Lys250del		 Deletion Direct sequencing Wildin RS et al., 2002