Mutation data of the AIRE gene in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

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).

*1 Abbreviations are as follows: M, Missense; N, Nonsense; P, Polymorphism; D, Deletion; FD, Frameshift Deletion; FI, Frameshift Insertion; ID, Insertion and Deletion; DU, Duplication; S, Splicing.
*2 A variable combination of destructive autoimmune phenomena occurs in childhood, but new tissue-specific symptoms may appear anytime throughout life.
*3 Abbreviations are as follows: AR, Autosomal Recessive; ND, Not Described.







Last updated 11 Jan 1999