ADA
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.28683G>A
CDS: c.632G>A
AnimoAcid: p.Arg211His		 Substitutions PCR based assay Hirschhorn R et al., 1992
2 Substitutions Genomic: g.30654T>G
CDS: c.911T>G
AnimoAcid: p.Leu304Arg		 Substitutions PCR based assay Hirschhorn R et al., 1992
3 Substitutions Genomic: g.31345C>T
CDS: c.986C>T
AnimoAcid: p.Ala329Val		 Substitutions PCR based assay Hirschhorn R et al., 1992
4 Substitutions Genomic: g.25238T>C
CDS: c.320T>C
AnimoAcid: p.Leu107Pro		 Substitutions Direct sequencing, Restriction enzyme analysis Santisteban I et al., 1995
5 Substitutions Genomic: g.15457C>G
CDS: c.43C>G
AnimoAcid: p.His15Asp		 Substitutions Direct sequencing, Restriction enzyme analysis Santisteban I et al., 1995
6 Substitutions Genomic: g.26168G>A
CDS: c.478+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis Santisteban I et al., 1995
7 Deletion Genomic: g.30698_30702delGAAGA
CDS: c.955_959delGAAGA
AnimoAcid: p.Glu319GlyfsX3		 Deletion Direct sequencing Hirschhorn R et al., 1993
8 Substitutions Genomic: g.28887C>T
CDS: c.760C>T
AnimoAcid: p.Gln254X		 Substitutions Direct sequencing Hirschhorn R et al., 1993
9 Substitutions Genomic: g.28730G>A
CDS: c.678+1G>A
AnimoAcid: 		Substitutions Direct sequencing Kawamoto H et al., 1993
10 Substitutions Genomic: g.25208A>G
CDS: c.290A>G
AnimoAcid: p.Tyr97Cys		 Substitutions Direct sequencing Jiang C et al., 1997
11 Substitutions Genomic: g.25234C>G
CDS: c.316C>G
AnimoAcid: p.Leu106Val		 Substitutions Direct sequencing Jiang C et al., 1997
12 Substitutions Genomic: g.28697G>A
CDS: c.646G>A
AnimoAcid: p.Gly216Arg		 Substitutions Direct sequencing Hirschhorn R et al., 1991
13 Substitutions Genomic: g.25144C>T
CDS: c.226C>T
AnimoAcid: p.Arg76Trp		 Substitutions Direct sequencing Hirschhorn R et al., 1990
14 Substitutions Genomic: g.25238T>C
CDS: c.320T>C
AnimoAcid: p.Leu107Pro		 Substitutions Fluorescent sequencing Hirschhorn R et al., 1990
15 Substitutions Genomic: g.29124C>T
CDS: c.821C>T
AnimoAcid: p.Pro274Leu		 Substitutions Direct sequencing Hirschhorn R et al., 1990
16 Substitutions Genomic: g.26135G>A
CDS: c.446G>A
AnimoAcid: p.Arg149Gln		 Substitutions Direct sequencing Hirschhorn R et al., 1990
17 Substitutions Genomic: g.28694G>A
CDS: c.643G>A
AnimoAcid: p.Ala215Thr		 Substitutions Direct sequencing, Restriction enzyme analysis Hirschhorn R et al., 1990
18 Substitutions Genomic: g.28682C>T
CDS: c.631C>T
AnimoAcid: p.Arg211Cys		 Substitutions Direct sequencing Hirschhorn R et al., 1990
19 Substitutions Genomic: g.30633C>A
CDS: c.890C>A
AnimoAcid: p.Pro297Gln		 Substitutions Direct sequencing Hirschhorn R et al., 1989
20 Substitutions Genomic: g.25220G>A
CDS: c.302G>A
AnimoAcid: p.Arg101Gln		 Substitutions Direct sequencing, PCR based assay Hirschhorn R et al., 1994
21 Substitutions Genomic: g.25157A>G
CDS: c.239A>G
AnimoAcid: p.Lys80Arg		 Substitutions Direct sequencing Valerio D et al., 1986
22 Substitutions Genomic: g.30654T>G
CDS: c.911T>G
AnimoAcid: p.Leu304Arg		 Substitutions Direct sequencing Valerio D et al., 1986
23 Substitutions Genomic: g.25219C>T
CDS: c.301C>T
AnimoAcid: p.Arg101Trp		 Substitutions Direct sequencing Akeson AL et al., 1988
24 Substitutions Genomic: g.28683G>A
CDS: c.632G>A
AnimoAcid: p.Arg211His		 Substitutions Direct sequencing Akeson AL et al., 1988
25 Substitutions Genomic: g.25135A>G
CDS: c.219-2A>G
AnimoAcid: 		Substitutions Direct sequencing Akeson AL et al., 1988
26 Substitutions Genomic: g.28683G>A
CDS: c.632G>A
AnimoAcid: p.Arg211His		 Substitutions Direct sequencing Akeson AL et al., 1987
27 Substitutions Genomic: g.31345C>T
CDS: c.986C>T
AnimoAcid: p.Ala329Val		 Substitutions Direct sequencing Akeson AL et al., 1987
28 Substitutions Genomic: g.25220G>A
CDS: c.302G>A
AnimoAcid: p.Arg101Gln		 Substitutions Direct sequencing Bonthron DT et al., 1985
29 Substitutions Genomic: g.162G>C
CDS: c.33+1G>C
AnimoAcid: 		Substitutions Direct sequencing Hirschhorn R et al., 1994
30 Substitutions Genomic: g.31301G>A
CDS: c.976-34G>A
AnimoAcid: 		Substitutions Direct sequencing Santisteban I et al., 1993
31 Substitutions Genomic: g.27457G>A
CDS: c.529G>A
AnimoAcid: p.Val177Met		 Substitutions Direct sequencing Santisteban I et al., 1993
32 Deletion Genomic: g.31378_31379delAG
CDS: c.1019_1020delAG
AnimoAcid: p.Arg341GlyfsX9		 Deletion Direct sequencing Santisteban I et al., 1993
33 Substitutions Genomic: g.25220G>T
CDS: c.302G>T
AnimoAcid: p.Arg101Leu		 Substitutions Direct sequencing Santisteban I et al., 1993
34 Substitutions Genomic: g.26156G>A
CDS: c.467G>A
AnimoAcid: p.Arg156His		 Substitutions Direct sequencing Santisteban I et al., 1993
35 Substitutions Genomic: g.28697G>A
CDS: c.646G>A
AnimoAcid: p.Gly216Arg		 Substitutions Direct sequencing Santisteban I et al., 1993
36 Substitutions Genomic: g.30719G>A
CDS: c.975+1G>A
AnimoAcid: 		Substitutions Direct sequencing Santisteban I et al., 1993
37 Deletion Genomic: g.30698_30702delGAAGA
CDS: c.955_959delGAAGA
AnimoAcid: p.Glu319GlyfsX3		 Deletion Direct sequencing Santisteban I et al., 1993
38 Substitutions Genomic: g.28885G>C
CDS: c.758G>C
AnimoAcid: p.Arg253Pro		 Substitutions Direct sequencing Hirschhorn R et al., 1993
39 Substitutions Genomic: g.15472G>A
CDS: c.58G>A
AnimoAcid: p.Gly20Arg		 Substitutions Direct sequencing Yang DR et al., 1994
40 Substitutions Genomic: g.31345C>T
CDS: c.986C>T
AnimoAcid: p.Ala329Val		 Substitutions Direct sequencing Bollinger ME et al., 1996
41 Substitutions Genomic: g.26168G>A
CDS: c.478+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Hirschhorn R et al., 1996
42 Substitutions Genomic: g.26156G>A
CDS: c.467G>A
AnimoAcid: p.Arg156His		 Substitutions Direct sequencing, Restriction enzyme analysis, SSCP Hirschhorn R et al., 1996
43 Substitutions Genomic: g.26066C>A
CDS: c.377C>A
AnimoAcid: p.Pro126Gln		 Substitutions Direct sequencing, SSCP Ozsahin H et al., 1997
44 Substitutions Genomic: g.25220G>A
CDS: c.302G>A
AnimoAcid: p.Arg101Gln		 Substitutions Direct sequencing Ozsahin H et al., 1997
45 Substitutions Genomic: g.26143C>A
CDS: c.454C>A
AnimoAcid: p.Leu152Met		 Substitutions Direct sequencing Hirschhorn R et al., 1997
46 Substitutions Genomic: g.28825C>T
CDS: c.698C>T
AnimoAcid: p.Thr233Ile		 Substitutions Direct sequencing Hirschhorn R et al., 1997
47 Substitutions Genomic: g.26074G>A
CDS: c.385G>A
AnimoAcid: p.Val129Met		 Substitutions Direct sequencing, SSCP Arrendondo-Vega FX et al., 1998
48 Substitutions Genomic: g.25138G>T
CDS: c.220G>T
AnimoAcid: p.Gly74Cys		 Substitutions Direct sequencing Arrendondo-Vega FX et al., 1998
49 Substitutions Genomic: g.26108G>A
CDS: c.419G>A
AnimoAcid: p.Gly140Glu		 Substitutions Direct sequencing, PCR based assay Arrendondo-Vega FX et al., 1998
50 Substitutions Genomic: g.26134C>T
CDS: c.445C>T
AnimoAcid: p.Arg149Trp		 Substitutions Direct sequencing Arrendondo-Vega FX et al., 1998
51 Substitutions Genomic: g.27524A>C
CDS: c.596A>C
AnimoAcid: p.Gln199Pro		 Substitutions Direct sequencing, PCR based assay Arrendondo-Vega FX et al., 1998
52 Substitutions Genomic: g.25273C>T
CDS: c.355C>T
AnimoAcid: p.Gln119X		 Substitutions Fluorescent sequencing Ariga T et al., 2001
53 Substitutions Genomic: g.28831G>A
CDS: c.704G>A
AnimoAcid: p.Arg235Gln		 Substitutions Fluorescent sequencing Ariga T et al., 2001
54 Substitutions Genomic: g.31874T>A
CDS: c.1079-15T>A
AnimoAcid: 		Substitutions Direct sequencing Arredondo-Vega FX et al., 2002
55 Substitutions Genomic: g.26155C>T
CDS: c.466C>T
AnimoAcid: p.Arg156Cys		 Substitutions Direct sequencing Hirschhorn R, 1992
56 Substitutions Genomic: g.30615C>T
CDS: c.872C>T
AnimoAcid: p.Ser291Leu		 Substitutions Direct sequencing Hirschhorn R, 1992
57 Substitutions Genomic: g.31345C>T
CDS: c.986C>T
AnimoAcid: p.Ala329Val		 Substitutions Direct sequencing Hirschhorn R, 1992
58 Substitutions Genomic: g.28683G>A
CDS: c.632G>A
AnimoAcid: p.Arg211His		 Substitutions Direct sequencing, Restriction enzyme analysis Santisteban I et al., 1995
59 Substitutions Genomic: g.27464C>A
CDS: c.536C>A
AnimoAcid: p.Ala179Asp		 Substitutions Direct sequencing, Restriction enzyme analysis Santisteban I et al., 1995
60 Substitutions Genomic: g.25166C>A
CDS: c.248C>A
AnimoAcid: p.Ala83Asp		 Substitutions Direct sequencing, Restriction enzyme analysis Santisteban I et al., 1995
61 Substitutions Genomic: g.28700G>A
CDS: c.649G>A
AnimoAcid: p.Glu217Lys		 Substitutions Direct sequencing Hirschhorn R et al., 1992
62 Substitutions Genomic: g.30672T>C
CDS: c.929T>C
AnimoAcid: p.Met310Thr		 Substitutions Direct sequencing Ariga T et al., 2001
63 Substitutions Genomic: g.25139G>A
CDS: c.221G>A
AnimoAcid: p.Gly74Asp		 Substitutions Direct sequencing Ariga T et al., 2001
64 Substitutions Genomic: g.28842G>A
CDS: c.715G>A
AnimoAcid: p.Gly239Ser		 Substitutions Direct sequencing Ariga T et al., 2001
65 Substitutions Genomic: g.135C>T
CDS: c.7C>T
AnimoAcid: p.Gln3X		 Substitutions PCR based assay Sanchez JJ et al., 2007
66 Substitutions Genomic: g.25157A>G
CDS: c.239A>G
AnimoAcid: p.Lys80Arg		 Substitutions PCR based assay Sanchez JJ et al., 2007
67 Substitutions Genomic: g.26156G>A
CDS: c.467G>A
AnimoAcid: p.Arg156His		 Substitutions Direct sequencing Liu P et al., 2009
68 Deletion Genomic: g.28832delG
CDS: c.705delG
AnimoAcid: p.Leu236Trpfs		 Deletion Direct sequencing Liu P et al., 2009
69 Deletion Genomic: g.30698_30702delGAAGA
CDS: c.955_959delGAAGA
AnimoAcid: p.Glu319GlyfsX3		 Deletion Direct sequencing Gossage DL et al., 1993
70 Substitutions Genomic: g.135C>T
CDS: c.7C>T
AnimoAcid: p.Gln3X		 Substitutions Direct sequencing Santisteban I et al., 1995
71 Substitutions Genomic: g.26113C>T
CDS: c.424C>T
AnimoAcid: p.Arg142X		 Substitutions Direct sequencing Santisteban I et al., 1995
72 Deletion Genomic: g.26056delG
CDS: c.367delG
AnimoAcid: p.Asp123ThrfsX10		 Deletion Direct sequencing, PCR based assay Arrendondo-Vega FX et al., 1998
73 Deletion Genomic: g.31368_31370delGAA
CDS: c.1009_1011delGAA
AnimoAcid: p.Glu337del		 Deletion Direct sequencing, PCR based assay Arrendondo-Vega FX et al., 1998
74 Substitutions Genomic: g.29148G>A
CDS: c.845G>A
AnimoAcid: p.Arg282Gln		 Substitutions Direct sequencing Hellani A et al., 2009
75 Substitutions Genomic: g.31345C>T
CDS: c.986C>T
AnimoAcid: p.Ala329Val		 Substitutions Direct sequencing, Restriction enzyme analysis, Southern blotting Markert ML et al., 1989
76 Substitutions Genomic: g.15510G>A
CDS: c.95+1G>A
AnimoAcid: p.[Arg33X; Val12GlufsX9]		 Substitutions Direct sequencing, PCR based assay Arredondo-Vega FX et al., 1994
77 Insertion Genomic: g.[29080_29081ins8; 29084_29085ins5]
CDS: c.[781-4_781-3ins8; 781_782ins5]
AnimoAcid: p.Ile261AlafsX4		 Insertion Direct sequencing, PCR based assay Arredondo-Vega FX et al., 1994
78 Substitutions Genomic: g.25273C>T
CDS: c.355C>T
AnimoAcid: p.Gln119X		 Substitutions Direct sequencing Okura Y et al., 2011
79 Substitutions Genomic: g.22573A>T
CDS: c.102A>T
AnimoAcid: p.Arg34Ser		 Substitutions Direct sequencing Okura Y et al., 2011
80 Substitutions Genomic: g.28842G>A
CDS: c.715G>A
AnimoAcid: p.Gly239Ser		 Substitutions Direct sequencing Okura Y et al., 2011
81 Substitutions Genomic: g.25229C>T
CDS: c.311C>T
AnimoAcid: p.Pro104Leu		 Substitutions Direct sequencing, Northern blotting Atasoy U et al., 1993
82 Substitutions Genomic: g.26155C>T
CDS: c.466C>T
AnimoAcid: p.Arg156Cys		 Substitutions Direct sequencing Nakaoka H et al., 2012
83 Substitutions Genomic: g.27457G>A
CDS: c.529G>A
AnimoAcid: p.Val177Met		 Substitutions Direct sequencing Nakaoka H et al., 2012