Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case #/Frequency |
Consequence |
Symptom |
Hereditary Pattern*3 |
Onset |
Ethnic Origin |
Haplotype (PB1, D21S171)
|
(JA-I, D21S1912, PFKL)
|
Reference |
M |
247 |
1 |
G |
K83E |
1 |
AAG-GAG at ntd 247 ->Lys-Glu at codon 83 |
1*2 |
AR |
early |
Finnish |
ND |
4 7 5 |
Nagamine,K. et al. Nature Genet 17,393(1997). |
N |
769 |
1 |
T |
R257X |
10 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Finnish |
ND |
4 3 5 |
Nagamine,K. et al. Nature Genet 17,393(1997). |
N |
769 |
1 |
T |
R257X |
2 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Swiss |
ND |
5 4 3 |
Nagamine,K. et al. Nature Genet 17,393(1997). |
N |
769 |
1 |
T |
R257X |
82 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Finnish |
1 2 |
4 3 5 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
N |
769 |
1 |
T |
R257X |
2 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Italian |
4 5 |
4 4 7 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
N |
769 |
1 |
T |
R257X |
2 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
German |
2 5 |
5 4 2 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
N |
769 |
1 |
T |
R257X |
2 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
German |
4 3 |
5 4 5 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
FD |
967 |
13 |
|
967del13 |
4 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
British |
4 5 |
4 5 5 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
FD |
967 |
13 |
|
967del13 |
2 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
Dutch |
4 5 |
4 5 5 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
FD |
967 |
13 |
|
967del13 |
1 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
German |
4 5 |
4 5 5 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
DU |
969 |
0 |
CCTG |
969dupCCTG |
2 |
4-bp dup at ntd 969 -> frameshift at codon 324 |
1 |
AR |
early |
Italian |
3 3 |
5 3 5 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
FI |
1164 |
0 |
A |
1164insA |
2 |
1-bp ins of A at ntd 1164 -> frameshift at codon 389 |
1 |
AR |
early |
Finnish |
2 5 |
5 4 3 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
FD |
1193 |
1 |
|
1193delC |
2 |
1-bp del of C at ntd 1193 -> frameshift at codon 398 |
1 |
AR |
early |
French |
4 5 |
2 10 7 |
The Finnish-German APECED Consortium, Nature Genet.17,399(1997). |
M |
83 |
1 |
C |
L28P |
1 |
CTG-CCG at ntd 83 -> Leu-Pro at codon 28 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
D |
191 |
36 |
|
191del36 |
1 |
36-bp del at ntd 191 -> deletion at codon 64-75 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
FI |
209 |
0 |
CAGG |
209insCAGG |
1 |
4-bp ins of CAGG at ntd 209 -> frameshift at codon 71 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
N |
517 |
1 |
T |
Q173X |
1 |
CAG-TAG at ntd 517 -> Gln-Stop at codon 173 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
FD |
1264 |
1 |
|
1264delC |
1 |
1-bp del at ntd 1264 -> frameshift at codon 422 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
ID |
1296 |
1 |
AC |
1296delGinsAC |
1 |
1-bp del of G and 2-bp ins of AC at ntd 1296 ->frameshift at codon 433 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
S |
1096-1 |
1 |
A |
1096-1G->A |
1 |
G-A at ntd 1096-1 in intron 9 |
1 |
AR |
early |
ND |
ND |
ND |
in press |
P |
63 |
1 |
T |
63C/T |
|
polymorphism at ntd 63 (A/A21) |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
588 |
1 |
T |
588C/T |
|
polymorphism at ntd 588 (S/S196) |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
607 |
1 |
T |
R203X |
1 |
CGA-TGA at ntd 607 -> Arg-Stop at codon 203 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 10 3 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
681 |
1 |
T |
681C/T |
|
polymorphism at ntd 681 (G/G227) |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
6 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 3 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
3 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Finnish |
ND |
ND 3 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
1 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 4 6 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
1 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 4 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
1 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 5 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
1 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 5 3 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
1 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
British |
ND |
ND 2 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
769 |
1 |
T |
R257X |
1 |
CGA-TGA at ntd 769 -> Arg-Stop at codon 257 |
1 |
AR |
early |
New Zealander |
ND |
ND 4 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
834 |
1 |
G |
834C/G |
|
polymorphism at ntd 834 (S/R278) |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
1 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
Finnish |
ND |
ND 5 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
2 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 5 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
2, homozygous |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 5 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
1 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 3 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
1 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
New Zealander |
ND |
ND 4 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
2, homozygous |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
British |
ND |
ND 5 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
FD |
967 |
13 |
|
967del13 |
1 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
British |
ND |
ND 4 3 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
DU |
969 |
0 |
CCTG |
969dupCCTG |
2 |
4-bp dup at ntd 969 -> frameshift at codon 324 |
1 |
AR |
early |
Northern Itarian |
ND |
ND 3 5 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
1197 |
1 |
C |
1197T/C |
|
polymorphism at ntd 1197 (A/A399) |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
1578 |
1 |
T |
1578C/T |
|
polymorphism at ntd 1578 (D/D526) |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
M |
1638 |
1 |
T |
X546C |
2 |
TGA-TGT at ntd 1638 -> Stop-Cys at codon 546 |
1 |
AR |
early |
Finnish |
ND |
ND 5 6 |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
1095+6 |
1 |
A |
1095+6G->A |
|
polymorphism at ntd 1095+6 |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
1095+78 |
0 |
C |
1095+78insC |
|
polymorphism at ntd 1095+78 |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
307+61 |
1 |
T |
307+61C->T |
|
polymorphism at ntd 307+61 |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
539-31 |
1 |
A |
539-31G->A |
|
polymorphism at ntd 539-31 |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
879+156 |
1 |
C |
879+156T->C |
|
polymorphism at ntd 879+156 |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
P |
880-297 |
1 |
A |
880-297G->A |
|
polymorphism at ntd 880-297 |
- |
- |
- |
ND |
ND |
ND |
Scott,H.S. et al. Mol Endocrinol 12,1112(1998). |
N |
415 |
1 |
T |
R139X |
18, homozygous |
CGA-TGA at ntd 415 -> Arg-Stop at codon 139 |
1 |
AR |
early |
Sardinian |
ND |
ND |
Group1, Group2 and Heino,M. et al. Hum Genet 103,428(1998). |
N |
415 |
1 |
T |
R139X |
1 |
CGA-TGA at ntd 415 -> Arg-Stop at codon 139 |
1 |
AR |
early |
Sardinian |
ND |
ND |
Group1, Group2 and Heino,M. et al. Hum Genet 103,428(1998). |
FD |
967 |
13 |
|
967del13 |
1 |
13-bp del at ntd 967 -> frameshift at codon 323 |
1 |
AR |
early |
Sardinian |
ND |
ND |
Group1, Group2 and Heino,M. et al. Hum Genet 103,428(1998). |