The FBN1 polymorphisms database

File #
AA Position
Exons number
WT codon
Mutant codon
Mutational Event
CpG
Transition transversion
Structure
Mutation name
WT AA
Mutant AA
Comments
Ref#
26
52
1
GCG
GCT
G->T
No
Tv
NH2 unique region
156G>T
Ala
Ala
 Allele frequency 1/148
10
1
102
3
TGC
TGT
C->T
No
Ts
EGF-like #01
306C>T
Cys
Cys
  
14
44
170
5
TAC
TAT
C->T
Yes
Ts
EGF-like #03
510C>T
Tyr
Tyr
  
12
57
200
6
AGC
AGT
C->T
Yes
Ts
Hybrid motif #01
600C>T
Ser
Ser
  
19
27
246
7
GAT
spl-36
delA
Tv
cb EGF-like #01
IVS6-36delA
Asp
Spl 
 Allele frequency 5/188
10
58
246
7
GAT
spl-37
delT
Tv
cb EGF-like #01
IVS6-37delT
Asp
Spl 
  
19
87
246
7
GAT
spl-26
delT
Tv
cb EGF-like #01
IVS6-26delT
Asp
Spl 
  
21
28
256
7
CTC
CTT
C->T
No
Ts
cb EGF-like #01
768C>T
Leu
Leu
 Allele frequency 5/188
10
59
260
7
GGA
GGC
A->C
No
Tv
cb EGF-like #01
780A>C
Gly
Gly
  
19
60
314
8
AAA
AAG
A->G
No
Ts
cb EGF-like #02
942A>G
Lys
Lys
  
19
61
330
9
GAT
spl-20
A->C
Tv
8-Cys #01
IVS8-20A>C
Asp
Spl 
  
19
62
330
9
GAT
spl-34
insG
Tv
8-Cys #01
IVS8-34insG
Asp
Spl 
  
19
54
408
10
CCC
CCT
C->T
No
Ts
Proline
1224C>T
Pro
Pro
 Allele frequency 1/11
17
42
457
11
CGC
CGG
C->G
No
Tv
EGF-like #04
1371C>G
Arg
Arg
 Allele frequency in MFS patients 2/54 - Allele frequency in controls 13/100
11
63
 
13
 
 
T>C
 
Tv
cb EGF-like #05
IVS13+30T>C
 
 
 
19
29
582
14
TGC
TGT
C->T
No
Ts
cb EGF-like #05
1746C>T
Cys
Cys
 Allele frequency 1/188
10
81
607
14
GAT
GAC
T->C
No
Ts
cb EGF-like #05
1821T>C
Asp
Asp
 Relative frequency 0 01
20
7
625
15
AAT
AAC
T->C
No
Ts
cb EGF-like #06
1875T>C
Asn
Asn
 MFS proband frequency: 0.3 (ref 4), 0.264 (ref3) - Normal control frequency 0.167 (ref4) 0 1 (ref3)
4
55
 
15
 
 
G->A
 
Ts
 
IVS15+30G>A
 
 
Allele frequency 1/10
16
64
658
16
CGG
CGC
G->C
No
Tv
8-Cys #02
1974G>C
Arg
Arg
  
19
3
723
18
GAT
spl-46
A->G
Ts
cb EGF-like #07
IVS17-46A>G
Asp
Spl 
 MFS proband frequency 0.38 - Normal control frequency 0.35 - heterozygosity 0.43 (ref 9)
4
30
725
18
AAT
AAC
T->C
No
Ts
cb EGF-like #07
2175T>C
Asn
Asn
 Allele frequency 1/188
10
66
910
23
GAT
spl-35
C->T
Ts
cb EGF-like #10
IVS22-35C>T
Asp
Spl 
  
19
65
965
24
GAG
GAA
G->A
No
Ts
8-Cys #03
2895G>A
Glu
Glu
  
19
82
989
24
GGT
AGT
G->A
No
Ts
8-Cys #03
2965G>A
Gly
Ser
 Relative frequency 0.02/0 01 (controls)
20
83
1023
24
AAG
AAA
G->A
No
Ts
 
3069G>A
Lys
Lys
 Relative frequency 0.01
20
20
 
24
 
 
delT
Tv
cb EGF-like #11
IVS24+7delT
 
 
 
8
67
1070
26
GAC
spl-15
G->C
Tv
cb EGF-like #12
IVS25-15G>C
Asp
Spl 
  
19
68
 
26
 
 
G->A
Ts
cb EGF-like #13
IVS26+11G>A
 
 
 
19
8
1141
27
CCG
CCA
G->A
Yes
Ts
cb EGF-like #13
3423G>A
Pro
Pro
 MFS proband frequency 0.014 - Normal control frequency 0
3
4
1148
27
CCC
GCC
C->G
No
Tv
cb EGF-like #13
3442C>G
Pro
Ala
 heterozygosity 0.04
7
5
1155
28
GAC
spl-5
G->A
Ts
cb EGF-like #14
IVS27-5G>A
Asp
Spl 
 Heterozygosity 0.26
1
69
1155
28
GAC
spl-5
G->A
Ts
cb EGF-like #14
IVS27-5G>A
Asp
Spl 
  
19
15
 
28
 
 
del5
Tv
cb EGF-like #15
IVS28+15del5
 
 
MFS proband frequency 0.25 - Normal control frequency 0.3
8
70
 
28
 
 
C->T
Ts
cb EGF-like #15
IVS28+36C>T
 
 
 
19
71
 
28
 
 
T>C
Tv
cb EGF-like #15
IVS28+41T>C
 
 
 
19
72
 
28
 
 
G->T
 
Tv
cb EGF-like #15
IVS28+47G>T
 
 
 
19
73
1197
29
GAC
spl-29
G->C
 
Tv
cb EGF-like #15
IVS28-29G>C
Asp
Spl 
  
19
86
1197
29
GAC
spl-5
G->A
 
Ts
cb EGF-like #15
IVS28-5G>A
Asp
Spl 
 Relative frequency 0.01
7
9
1225
29
CCG
CCA
G->A
Yes
Ts
cb EGF-like #15
3675G>A
Pro
Pro
 MFS proband frequency 0.014 - Normal control frequency 0.08
3
45
1321
31
ACA
ACG
A->G
No
Ts
cb EGF-like #17
3963A>G
Thr
Thr
  
12
47
1355
32
ATT
ATC
T->C
No
Ts
cb EGF-like #18
4065T>C
Ile
Ile
  
13
12
1482
35
GGC
GGT
C->T
Yes
Ts
cb EGF-like #21
4446C>T
Gly
Gly
 MFS proband frequency 0.016 - Normal control frequency 0
4
74
1625
39
ACC
ACT
C->T
No
Ts
cb EGF-like #23
4875C>T
Thr
Thr
  
19
31
1635
39
ACC
ACG
C->G
No
Tv
cb EGF-like #23
4905C>G
Thr
Thr
 Allele frequency 1/188
10
75
1642
39
GAT
GAC
T->C
No
Ts
cb EGF-like #23
4926T>C
Asp
Asp
  
19
16
1689
41
GAT
spl-14
insT
 
Tv
8-Cys #05
IVS40-14insT
Asp
Spl 
 MFS proband frequency 0.118 - Normal control frequency 0.083
8
32
1689
41
GAT
spl-35
C->T
 
Ts
8-Cys #05
IVS40-35C>T
Asp
Spl 
 Allele frequency 11/162
10
84
1742
42
GAT
spl-13
insA
 
Tv
8-Cys #05
IVS41-13insA
Asp
Spl 
 Relative frequency 0.01
20
50
1781
43
GTG
GTA
G->A
No
Ts
cb EGF-like #25
5343G>A
Val
Val
 Allele frequency 2/252
15
22
 
45
 
 
insT
 
Tv
cb EGF-like #28
IVS45+22insT
 
 
 
8
33
1891
46
GAC
spl-31
T->A
 
Tv
cb EGF-like #28
IVS45-31T>A
Asp
Spl 
 Allele frequency 5/188
10
48
1891
46
GAC
spl-62
G->T
 
Tv
cb EGF-like #28
IVS45-62G>T
Asp
Spl 
  
13
34
1973
48
GAT
spl-13
C->T
 
Ts
cb EGF-like #30
IVS47-13C>T
Asp
Spl 
 Allele frequency 3/188
10
35
2013
49
GAT
spl-31
T->G
 
Tv
cb EGF-like #31
IVS48-31T>G
Asp
Spl 
 Allele frequency 4/188
10
43
2035
49
AGC
AGT
C->T
No
Ts
cb EGF-like #31
6105C>T
Ser
Ser
 Allele frequency in MFS patients 1/54 - Allele frequency in controls 1/100
11
51
2101
50
ACG
ACT
G->T
No
Tv
8-Cys #06
6303G>T
Thr
Thr
 Allele frequency 1/252
15
18
2105
51
GAG
spl-64
A->G
 
Ts
8-Cys #06
IVS50-64A>G
Glu
Spl 
  
5
17
2118
51
ATC
ATT
C->T
Yes
Ts
8-Cys #06
6354C>T
Ile
Ile
  
6
23
2127
52
GAT
spl-85
T->A
 
Tv
cb EGF-like #32
IVS51-85T>A
Asp
Spl 
  
8
56
 
52
 
 
G->A
 
Ts
cb EGF-like #33
IVS52+128G>A
 
 
Allele frequency 3/14
18
80
 
52
 
 
C->T
 
Ts
cb EGF-like #33
IVS52+50C>T
 
 
 
19
36
2198
53
CCC
CCT
C->T
Yes
Ts
cb EGF-like #33
6594C>T
Pro
Pro
 Allele frequency1/162
10
37
2206
54
GAT
spl-21
T->A
 
Tv
cb EGF-like #34
IVS53-21T>A
Asp
Spl 
 Allele frequency1/188
10
10
2227
54
TCA
TCC
A->C
No
Tv
cb EGF-like #34
6681A>C
Ser
Ser
 MFS proband frequency 0.014 - Normal control frequency 0
3
76
2278
55
CCC
CCT
C->T
Yes
Ts
cb EGF-like #35
6834C>T
Pro
Pro
  
19
13
2283
55
AGA
AGG
A->G
No
Ts
cb EGF-like #35
6849A>G
Arg
Arg
 MFS proband frequency 0.033 - Normal control frequency 0.083
4
14
2285
55
GAT
GAC
T->C
No
Ts
cb EGF-like #35
6855T>C
Asp
Asp
 MFS proband frequency 0.066 - Normal control frequency 0.133 - Heterozygosity 0.014 (ref 7)
4
6
2296
56
CAG
CAA
G->A
No
Ts
cb EGF-like #36
6888G>A
Gln
Gln
 heterozygosity 0.016 - MFS proband frequency 0.323 (ref3), 0.05 (ref 4) - Normal control frequency 0.17 (ref3), 0.118 (ref4)
2
38
2329
56
GAC
GAG
C->G
No
Tv
cb EGF-like #36
6987C>G
Asp
Glu
 Allele frequency 2/188
10
24
 
56
 
 
G->C
 
Tv
8-Cys #07
IVS56+17G>C
 
 
 
8
77
2366
57
GAC
GAT
C->T
Yes
Ts
8-Cys #07
7098C>T
Asp
Asp
  
19
52
 
57
 
 
C->G
 
Tv
cb EGF-like #37
IVS57+7C>G
 
 
Allele frequency 1/252
15
39
 
60
 
 
G->A
 
Ts
cb EGF-like #40
IVS60+9G>A
 
 
Allele frequency 1/188
10
40
2524
61
GAT
spl-113
T->G
 
Tv
cb EGF-like #40
IVS60-113T>G
Asp
Spl 
 Allele frequency 13/148
10
25
2607
63
GAT
spl-21
C->T
 
Ts
cb EGF-like #42
IVS62-21C>T
Asp
Spl 
  
8
41
 
62
 
 
A->C
 
Tv
cb EGF-like #42
IVS62+98A>C
 
 
Allele frequency 4/162
10
46
 
62
 
 
A->C
 
Tv
cb EGF-like #42
IVS62+8A>C
 
 
 
13
53
 
62
 
 
A->C
 
Tv
cb EGF-like #42
IVS62+7A>C
 
 
Allele frequency 1/252
15
88
 
62
 
 
A->C
 
Tv
cb EGF-like #42
IVS62+8A>C
 
 
 
21
78
2668
63
GGC
GGT
C->T
Yes
Ts
cb EGF-like #43
8004C>T
Gly
Gly
  
19
19
2734
64
AAC
AAT
C->T
Yes
Ts
COOH unique reg 
8202C>T
Asn
Asn
  
8
85
2743
65
GAT
spl-23
T->C
 
Tv
COOH unique reg 
IVS64-23T>C
Asp
Spl 
 Relative frequency 0.01
20
79
2834
65
ACT
ACC
T->C
No
Ts
COOH unique reg 
8502T>C
Thr
Thr
  
19