ELANE
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.597G>A
CDS: c.79G>A
AnimoAcid: p.Ala27Thr		 Substitutions CSGE, Direct sequencing Thomas M et al., 2006
2 Substitutions Genomic: g.39A>G
CDS: c.1A>G
AnimoAcid: p.Met1?		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
3 Substitutions Genomic: g.643C>T
CDS: c.125C>T
AnimoAcid: p.Pro42Leu		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
4 Substitutions Genomic: g.647C>A
CDS: c.129C>A
AnimoAcid: p.Phe43Leu		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
5 Substitutions Genomic: g.655C>T
CDS: c.137C>T
AnimoAcid: p.Ser46Phe		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
6 Substitutions Genomic: g.658T>C
CDS: c.140T>C
AnimoAcid: p.Leu47Pro		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
7 Substitutions Genomic: g.676A>T
CDS: c.158A>T
AnimoAcid: p.His53Leu		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
8 Substitutions Genomic: g.989G>C
CDS: c.242G>C
AnimoAcid: p.Arg81Pro		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
9 Substitutions Genomic: g.991G>A
CDS: c.244G>A
AnimoAcid: p.Val82Met		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
10 Substitutions Genomic: g.998T>C
CDS: c.251T>C
AnimoAcid: p.Leu84Pro		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
11 Substitutions Genomic: g.1109T>C
CDS: c.362T>C
AnimoAcid: p.Leu121Pro		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
12 Substitutions Genomic: g.3286G>C
CDS: c.379G>C
AnimoAcid: p.Ala127Pro		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
13 Substitutions Genomic: g.3362T>C
CDS: c.455T>C
AnimoAcid: p.Leu152Pro		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
14 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
15 Substitutions Genomic: g.3323C>T
CDS: c.416C>T
AnimoAcid: p.Pro139Leu		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
16 Substitutions Genomic: g.3505G>A
CDS: c.597+1G>A
AnimoAcid: 		Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
17 Substitutions Genomic: g.3509G>A
CDS: c.597+5G>A
AnimoAcid: 		Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
18 Substitutions Genomic: g.3710G>A
CDS: c.640G>A
AnimoAcid: p.Gly214Arg		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
19 Substitutions Genomic: g.3725G>A
CDS: c.655G>A
AnimoAcid: p.Val219Ile		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
20 Substitutions Genomic: g.3739C>A
CDS: c.669C>A
AnimoAcid: p.Cys223X		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
21 Deletion Genomic: g.3758delG
CDS: c.688delG
AnimoAcid: p.Asp230fs		 Deletion Direct sequencing Bellanne-Chantelot C et al., 2004
22 Substitutions Genomic: g.3855C>T
CDS: c.785C>T
AnimoAcid: p.Pro262Leu		 Substitutions Direct sequencing Bellanne-Chantelot C et al., 2004
23 Substitutions Genomic: g.700C>T
CDS: c.182C>T
AnimoAcid: p.Ala61Val		 Substitutions Direct sequencing Horwitz M et al., 1999
24 Substitutions Genomic: g.3688G>T
CDS: c.618G>T
AnimoAcid: p.Leu206Phe		 Substitutions Direct sequencing Horwitz M et al., 1999
25 Substitutions Genomic: g.3729G>A
CDS: c.659G>A
AnimoAcid: p.Arg220Gln		 Substitutions Direct sequencing Horwitz M et al., 1999
26 Substitutions Genomic: g.3505G>A
CDS: c.597+1G>A
AnimoAcid: 		Substitutions Direct sequencing Horwitz M et al., 1999
27 Substitutions Genomic: g.3507A>T
CDS: c.597+3A>T
AnimoAcid: 		Substitutions Direct sequencing Horwitz M et al., 1999
28 Substitutions Genomic: g.3509G>A
CDS: c.597+5G>A
AnimoAcid: 		Substitutions Direct sequencing Horwitz M et al., 1999
29 Substitutions Genomic: g.687G>A
CDS: c.169G>A
AnimoAcid: p.Ala57Thr		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
30 Substitutions Genomic: g.697T>C
CDS: c.179T>C
AnimoAcid: p.Ile60Thr		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
31 Substitutions Genomic: g.729T>A
CDS: c.211T>A
AnimoAcid: p.Cys71Ser		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
32 Substitutions Genomic: g.1048G>A
CDS: c.301G>A
AnimoAcid: p.Val101Met		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
33 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
34 Substitutions Genomic: g.3323C>T
CDS: c.416C>T
AnimoAcid: p.Pro139Leu		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
35 Substitutions Genomic: g.3710G>A
CDS: c.640G>A
AnimoAcid: p.Gly214Arg		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
36 Substitutions Genomic: g.3699G>T
CDS: c.629G>T
AnimoAcid: p.Gly210Val		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
37 Substitutions Genomic: g.3744C>A
CDS: c.674C>A
AnimoAcid: p.Ser225X		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
38 Substitutions Genomic: g.3731G>T
CDS: c.661G>T
AnimoAcid: p.Gly221X		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
39 Substitutions Genomic: g.3754C>A
CDS: c.684C>A
AnimoAcid: p.Tyr228X		 Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
40 Substitutions Genomic: g.3509G>A
CDS: c.597+5G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
41 Substitutions Genomic: g.3266C>A
CDS: c.367-8C>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
42 Deletion Genomic: g.3427_3450del
CDS: c.520_543del
AnimoAcid: p.Val174_Cys181del		 Deletion Direct sequencing, PCR based assay Dale DC et al., 2000
43 Substitutions Genomic: g.3505G>A
CDS: c.597+1G>A
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Dale DC et al., 2000
44 Substitutions Genomic: g.3739C>A
CDS: c.669C>A
AnimoAcid: p.Cys223X		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
45 Substitutions Genomic: g.3767G>C
CDS: c.697G>C
AnimoAcid: p.Ala233Pro		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
46 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
47 Substitutions Genomic: g.989G>C
CDS: c.242G>C
AnimoAcid: p.Arg81Pro		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
48 Substitutions Genomic: g.700C>T
CDS: c.182C>T
AnimoAcid: p.Ala61Val		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
49 Substitutions Genomic: g.3710G>A
CDS: c.640G>A
AnimoAcid: p.Gly214Arg		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
50 Substitutions Genomic: g.1048G>A
CDS: c.301G>A
AnimoAcid: p.Val101Met		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
51 Substitutions Genomic: g.1001G>A
CDS: c.254G>A
AnimoAcid: p.Gly85Glu		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
52 Substitutions Genomic: g.3678G>A
CDS: c.608G>A
AnimoAcid: p.Gly203Asp		 Substitutions Fluorescent sequencing Ishikawa N et al., 2008
53 Deletion Genomic: g.3287_3289delCCA
CDS: c.380_382delCCA
AnimoAcid: p.Thr128del		 Deletion Fluorescent sequencing Ishikawa N et al., 2008
54 Substitutions Genomic: g.3505G>A
CDS: c.597+1G>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
55 Substitutions Genomic: g.682G>A
CDS: c.164G>A
AnimoAcid: p.Cys55Tyr		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
56 Substitutions Genomic: g.1001G>A
CDS: c.254G>A
AnimoAcid: p.Gly85Glu		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
57 Substitutions Genomic: g.3266C>A
CDS: c.367-8C>A
AnimoAcid: 		Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
58 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
59 Substitutions Genomic: g.3358T>A
CDS: c.451T>A
AnimoAcid: p.Cys151Ser		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
60 Substitutions Genomic: g.3684C>G
CDS: c.614C>G
AnimoAcid: p.Pro205Arg		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
61 Substitutions Genomic: g.3840C>T
CDS: c.770C>T
AnimoAcid: p.Pro257Leu		 Substitutions Direct sequencing, Restriction enzyme analysis Ancliff PJ et al., 2001
62 Substitutions Genomic: g.3359G>A
CDS: c.452G>A
AnimoAcid: p.Cys151Tyr		 Substitutions Direct sequencing, Restriction enzyme analysis Germeshausen M et al., 2001
63 Substitutions Genomic: g.729T>C
CDS: c.211T>C
AnimoAcid: p.Cys71Arg		 Substitutions Fluorescent sequencing, PCR based assay, Restriction enzyme analysis Ancliff PJ et al., 2002
64 Substitutions Genomic: g.700C>T
CDS: c.182C>T
AnimoAcid: p.Ala61Val		 Substitutions Direct sequencing, Restriction enzyme analysis Kawaguchi H et al., 2003
65 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing, Restriction enzyme analysis Kawaguchi H et al., 2003
66 Substitutions Genomic: g.3323C>T
CDS: c.416C>T
AnimoAcid: p.Pro139Leu		 Substitutions Direct sequencing Sera Y et al., 2005
67 Substitutions Genomic: g.3729G>A
CDS: c.659G>A
AnimoAcid: p.Arg220Gln		 Substitutions Direct sequencing Sera Y et al., 2005
68 Substitutions Genomic: g.3739C>A
CDS: c.669C>A
AnimoAcid: p.Cys223X		 Substitutions Direct sequencing Sera Y et al., 2005
69 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing Sera Y et al., 2005
70 Substitutions Genomic: g.3712G>A
CDS: c.642G>A
AnimoAcid: p.Gly214Arg		 Substitutions Direct sequencing Sera Y et al., 2005
71 Substitutions Genomic: g.3767G>C
CDS: c.697G>C
AnimoAcid: p.Ala233Pro		 Substitutions Direct sequencing Sera Y et al., 2005
72 Substitutions Genomic: g.3710G>A
CDS: c.640G>A
AnimoAcid: p.Gly214Arg		 Substitutions Direct sequencing Donini M et al., 2007
73 Deletion Genomic: g.3685delC
CDS: c.615delC
AnimoAcid: p.Leu206TrpfsX6		 Deletion Direct sequencing Donini M et al., 2007
74 Deletion Genomic: g.705_728delAACTTCGTCATGTCGGCCGCGCAC
CDS: c.187_210delAACTTCGTCATGTCGGCCGCGCAC
AnimoAcid: p.Asn63_His70del		 Deletion Direct sequencing Donini M et al., 2007
75 Substitutions Genomic: g.3287C>A
CDS: c.380C>A
AnimoAcid: p.Ala127Asp		 Substitutions Direct sequencing Donini M et al., 2007
76 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Fluorescent sequencing, PCR based assay Boxer LA et al., 2006
77 Substitutions Genomic: g.991G>A
CDS: c.244G>A
AnimoAcid: p.Val82Met		 Substitutions Direct sequencing Lanciotti M et al., 2009
78 Substitutions Genomic: g.1039G>A
CDS: c.292G>A
AnimoAcid: p.Val98Met		 Substitutions Direct sequencing Lanciotti M et al., 2009
79 Substitutions Genomic: g.3505G>A
CDS: c.597+1G>A
AnimoAcid: p.Val190_Phe199del		 Substitutions Direct sequencing Salipante SJ et al., 2007
80 Substitutions Genomic: g.3291C>T
CDS: c.384C>T
AnimoAcid: p.Thr128Ile		 Substitutions Direct sequencing Salipante SJ et al., 2007
81 Substitutions Genomic: g.1039G>T
CDS: c.292G>T
AnimoAcid: p.Val98Leu		 Substitutions Direct sequencing Salipante SJ et al., 2007
82 Substitutions Genomic: g.1048G>T
CDS: c.301G>T
AnimoAcid: p.Val101Leu		 Substitutions Direct sequencing Salipante SJ et al., 2007
83 Substitutions Genomic: g.3323C>T
CDS: c.416C>T
AnimoAcid: p.Pro139Leu		 Substitutions Direct sequencing Rosenberg PS et al., 2008
84 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing Rosenberg PS et al., 2008
85 Substitutions Genomic: g.3710G>C
CDS: c.640G>C
AnimoAcid: p.Gly214Arg		 Substitutions Direct sequencing Rosenberg PS et al., 2008
86 Substitutions Genomic: g.1048G>A
CDS: c.301G>A
AnimoAcid: p.Val101Met		 Substitutions Direct sequencing Rosenberg PS et al., 2008
87 Substitutions Genomic: g.3677G>C
CDS: c.607G>C
AnimoAcid: p.Gly203Arg		 Substitutions Direct sequencing Xia J et al., 2009
88 Substitutions Genomic: g.3698G>T
CDS: c.628G>T
AnimoAcid: p.Gly210Trp		 Substitutions Direct sequencing Xia J et al., 2009
89 Substitutions Genomic: g.3731G>T
CDS: c.661G>T
AnimoAcid: p.Gly221X		 Substitutions Direct sequencing Xia J et al., 2009
90 Substitutions Genomic: g.697T>C
CDS: c.179T>C
AnimoAcid: p.Ile60Thr		 Substitutions Direct sequencing Xia J et al., 2009
91 Substitutions Genomic: g.3359G>C
CDS: c.452G>C
AnimoAcid: p.Cys151Ser		 Substitutions Direct sequencing Xia J et al., 2009
92 Deletion Genomic: g.3671delG
CDS: c.601delG
AnimoAcid: p.Asp201ThrfsX11		 Deletion Direct sequencing Xia J et al., 2009
93 Substitutions Genomic: g.1048G>A
CDS: c.301G>A
AnimoAcid: p.Val101Met		 Substitutions Direct sequencing Xia J et al., 2009
94 Substitutions Genomic: g.3266C>A
CDS: c.367-8C>A
AnimoAcid: p.Gln122_Leu123insProGln		 Substitutions Direct sequencing Xia J et al., 2009
95 Substitutions Genomic: g.712T>A
CDS: c.194T>A
AnimoAcid: p.Val65Asp		 Substitutions Direct sequencing Xia J et al., 2009
96 Substitutions Genomic: g.3754C>A
CDS: c.684C>A
AnimoAcid: p.Tyr228X		 Substitutions Direct sequencing Xia J et al., 2009
97 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing Xia J et al., 2009
98 Substitutions Genomic: g.3739C>A
CDS: c.669C>A
AnimoAcid: p.Cys223X		 Substitutions Direct sequencing Xia J et al., 2009
99 Substitutions Genomic: g.3710G>C
CDS: c.640G>C
AnimoAcid: p.Gly214Arg		 Substitutions Direct sequencing Xia J et al., 2009
100 Substitutions Genomic: g.3694C>A
CDS: c.624C>A
AnimoAcid: p.Cys208X		 Substitutions Direct sequencing Xia J et al., 2009
101 Substitutions Genomic: g.687G>A
CDS: c.169G>A
AnimoAcid: p.Ala57Thr		 Substitutions Direct sequencing Xia J et al., 2009
102 Deletion Genomic: g.3287_3289delCCA
CDS: c.380_382delCCA
AnimoAcid: p.Thr128del		 Deletion Direct sequencing Xia J et al., 2009
103 Substitutions Genomic: g.1055G>C
CDS: c.308G>C
AnimoAcid: p.Arg103Pro		 Substitutions Direct sequencing Xia J et al., 2009
104 Substitutions Genomic: g.1055G>T
CDS: c.308G>T
AnimoAcid: p.Arg103Leu		 Substitutions Direct sequencing Xia J et al., 2009
105 Substitutions Genomic: g.3359G>A
CDS: c.452G>A
AnimoAcid: p.Cys151Tyr		 Substitutions Direct sequencing Xia J et al., 2009
106 Deletion Genomic: g.3757delC
CDS: c.687delC
AnimoAcid: p.Asp230MetfsX10		 Deletion Direct sequencing Xia J et al., 2009
107 Substitutions Genomic: g.715T>G
CDS: c.197T>G
AnimoAcid: p.Met66Arg		 Substitutions Direct sequencing Xia J et al., 2009
108 Substitutions Genomic: g.698T>G
CDS: c.180T>G
AnimoAcid: p.Ile60Met		 Substitutions Direct sequencing Xia J et al., 2009
109 Substitutions Genomic: g.700C>G
CDS: c.182C>G
AnimoAcid: p.Ala61Gly		 Substitutions Direct sequencing Xia J et al., 2009
110 Substitutions Genomic: g.643C>T
CDS: c.125C>T
AnimoAcid: p.Pro42Leu		 Substitutions Direct sequencing Shiohara M et al., 2009
111 Substitutions Genomic: g.989G>C
CDS: c.242G>C
AnimoAcid: p.Arg81Pro		 Substitutions Direct sequencing Shiohara M et al., 2009
112 Substitutions Genomic: g.1048G>A
CDS: c.301G>A
AnimoAcid: p.Val101Met		 Substitutions Direct sequencing Shiohara M et al., 2009
113 Substitutions Genomic: g.3284C>T
CDS: c.377C>T
AnimoAcid: p.Ser126Leu		 Substitutions Direct sequencing Shiohara M et al., 2009
114 Substitutions Genomic: g.3323C>T
CDS: c.416C>T
AnimoAcid: p.Pro139Leu		 Substitutions Direct sequencing Shiohara M et al., 2009
115 Substitutions Genomic: g.3793T>A
CDS: c.723T>A
AnimoAcid: p.Trp241X		 Substitutions Direct sequencing Shiohara M et al., 2009
116 Substitutions Genomic: g.687G>T
CDS: c.169G>T
AnimoAcid: p.Ala57Ser		 Substitutions Direct sequencing van de Vosse E et al., 2011
117 Substitutions Genomic: g.3677G>C
CDS: c.607G>C
AnimoAcid: p.Gly203Arg		 Substitutions Direct sequencing Shim YJ et al., 2011
118 Substitutions Genomic: g.3739C>A
CDS: c.669C>A
AnimoAcid: p.Cys223X		 Substitutions Direct sequencing Lee WI et al., 2012
119 Substitutions Genomic: g.3416A>C
CDS: c.509A>C
AnimoAcid: p.Gln170Pro		 Substitutions Direct sequencing Lee WI et al., 2012
120 Substitutions Genomic: g.3283T>C
CDS: c.376T>C
AnimoAcid: p.Ser126Pro		 Substitutions Direct sequencing Lee WI et al., 2012