Families
|
Mutations Detected
|
Variant effect
|
Functional Consequence
|
Position
|
Genotype
|
Reference
|
---|
IR-APECED-1
|
c.1095+2T>A
|
Splice donor loss
|
Splice donor variant
|
IVS9
|
Hom
|
Seifi-Alan
|
IR-APECED-2
|
c.1496delC
|
p.P499LfsX22
|
Stop gained
|
Exon 12
|
Compound heterozygote
|
This study
|
c.232T>C
|
p.Y78R
|
Missense
|
Exon 2
| |
Cihakova [12]
|
IR-APECED-3
|
c.967_979delCTGTCCCCTCCGC
|
p.L323SfsX51
|
Frameshift variant
|
Exon 8
|
Hom
|
Nagamine [5]
|
IR-APECED-4
|
c.308-1G>C
|
Splice acceptor loss
|
Splice acceptor variant
|
IVS2
|
Hom
|
This study
|
IR-APECED-5
|
c.415C>T
|
p.R139X
|
Stop gained
|
Exon 3
|
Homo
|
Rosatelli [13]
|
IR-APECED-6
|
c.415C>T
|
p.R139X
|
Stop gained
|
Exon 3
|
Compound heterozygote
|
Rosatelli [13]
|
c.62C>T
|
p.A21V
|
Missense
|
Exon 1
| |
Halonen [30]
|
- Novel variants identified in this study are shown in bold