Supplementary Table 1. List of TREX1 variants associated with AGS, FCL, SLE / SS and RVCL
Clinical
phenotype
Inheritance
Genomic
location
cDNA change
Protein change
Short protein
nomenclature
ExAc
frequency
Reference(s)
AGS
Recessive
48,508,093
c.38C>A
p.Thr13Asn
T13N
0/122703
#
FCL
Dominant ?SNP¶
48,508,103
c.50T>C
p.Phe17Ser
F17S
7/122734
(1)
AGS + FCL
Dominant or de novo
48,508,106
c.52G>A
p.Asp18Asn
D18N
0/122751
(2, 3)
AGS
ND
48,508,106
c.52G>C
p.Asp18His
D18H
0/122751
#
AGS
Recessive
48,508,149
c.95C>G
p.Thr32Arg
T32R
0/122691
#
AGS
Recessive
48,508,251
c.197A>G
p.Lys66Arg
K66R
6/122660
(4)
AGS
Recessive
48,508,329
c.275T>A
p.Leu92Gln
L92Q
0/122600
#
AGS + SLE
Recessive / possibly
dominant in SLE
48,508,344
c.290G>A
p.Arg97His
R97H
5/122598
(5, 6)
AGS + SLE
Recessive / possibly
dominant in SLE
48,508,395
c.341G>A
p.Arg114His
R114H
19/120730
(7-10)
AGS
Recessive
48,508,419
c.365T>C
p.Val122Ala
V122A
0/122629
(11)
SLE
Possibly dominant
48,508,437
c.383G>A
p.Arg128His
R128H
1/122596
(12)
FCL
Dominant
48,508,448
c.394C>G
p.Pro132Ala
P132A
2/121062
(13)
SLE
Possibly dominant
48,508,527
c.473C>T
p.Ala158Val
A158V
3/122526
(8)
AGS
Recessive
48,508,539
c.485T>C
p.Leu162Pro
L162P
0/122517
(4)
AGS
Recessive
48,508,607
c.553C>T
p.Arg185Cys
R185C
2/122616
#
AGS
Dominant or de novo
48,508,637
c.583C>T
p.His195Tyr
H195Y
0/122587
(14)
FCL
Dominant
48,508,639
c.585C>G
p.His195Gln
H195Q
0/122587
(15)
AGS + SS
Recessive / possibly
dominant in SS
48,508,646
c.592G>A
p.Glu198Lys
E198K
0/122621
(16, 17)
AGS
Dominant or de novo
48,508,652
c.598G>A
p.Asp200Asn
D200N
0/122617
(1)
AGS
Dominant or de novo
48,508,652
c.598G>C
p.Asp200His
D200H
0/122617
(16)
AGS
Recessive
48,508,656
c.602T>A
p.Val201Asp
V201N
0/122617
(7)
AGS
Recessive
48,508,713
c.659A>G
p.Asp220Gly
D220G
0/122678
#
AGS
Recessive
48,508,721
c.667G>A
p.Ala223Thr
A223T
2/122676
(14)
SLE
Possibly dominant
48,508,733
c.679G>A
p.Gly227Ser
G227S
18/122700
(8)
SLE
Possibly dominant
48,508,774
c.720G>C
p.Arg240Ser
R240S
26/122778
(8, 9)
SLE
Possibly dominant
48,508,793
c.739G>C
p.Ala247Pro
A247P
16/122794
(8, 9)
SLE
Possibly dominant
48,508,923
c.869C>T
p.Pro290Leu
P290L
6/121912
(8, 10)
AGS
Recessive
48,508,961
c.907A>C
p.Thr303Pro
T303P
2/120998
(11)
SLE
Possibly dominant
48,508,968
c.914A>G
p.Tyr305Cys
Y305C
17/120566
(8, 9)
SS
Possibly dominant
48,508,971
c.917G>C
p.Gly306Ala
G306A
1/120268
(8)
AGS
Recessive
48,508,544
c.490C>T
p.Arg164*§
R164*
0/122513
(7)
AGS
Recessive
48,508,113
c.58dup
p.Glu20Glyfs*82
E20Gfs*82
0/122751
(7)
AGS
Recessive
48,508,199
c.144dupC
p.Thr49Hisfs*50
T49Hfs*50
0/122617
#
AGS
Recessive
48,508,204
c.150_151del
p.Gln51Glyfs*50
Q51Gfs*50
0/122603
(16)
AGS
Recessive
48,508,206
c.152_153del
p.Gln51Argfs*50
Q51Rfs*50
1/122602
(4)
AGS
Recessive
48,508,267
c.212_213dup
p.Ala72Trpfs*17
A72Wfs*17
0/122632
(11)
AGS
Recessive
48,508,294
c.240dup
p.Ala81Serfs*21
A81Sfs*21
0/122619
#
AGS
Recessive
48,508,291
c.236_243dup
p.Ser82Leufs*9
S82Lfs*9
0/122619
#
AGS
Recessive
48,508,316
c.262_263insA
G
p.Ser88Lysfs*23
S88Kfs*23
0/122615
(5)
AGS
Recessive
48,508,348
c.294dup
p.Cys99Metfs*3
C99Mfs*3
0/122613
(18)
AGS
Recessive
48,508,422
c.366_368dup
p.Ala123dup
A123dup
0/122629
(11)
FCL
Dominant
48,508,429
c.375dup
p.Gly126Trpfs*2
G126fWs*2
0/122629
(1)
AGS
Recessive
48,508,451
c.397delC
p.Leu133Cysfs*27
L133Cfs*27
0/122611
(11)
AGS
Recessive
48,508,462
c.393_408dup
p.Glu137Profs*24
Q137Pfs*24
0/122611
(11)
AGS
Recessive
48,508,469
c.415_416delG
C
p.Ala139Tyrfs*16
A139Yfs*16
0/122569
#
AGS
Recessive
48,508,521
c.467delT
p.Ile156Thrfs*4
I156Tfs*4
0/122531
#
AGS
Recessive
48,508,524
c.470del
p.Thr157Metfs*3
T157Mfs*3
0/122531
#
AGS
Recessive
48,508,554
c.500del
p.Ser167Thrfs*13
S167Tfs*13
0/122537
(11)
AGS
Recessive
48,508,654
c.598_600dup
p.Asp200dup
D200dup
0/122617
(7)
AGS
Recessive
48,508,663
c.609_662dup
p.Leu204_Ala221du L204_A221du
p
p
0/122659
(11)
AGS
Recessive
48,508,682
c.625_628dup
p.Trp210Serfs*32
W210Sfs*32
0/122659
(11)
AGS + SLE
Recessive / possibly
dominant in SLE
48,508,689
c.635delC
p.Pro212Hisfs*65
P212Hfs*65
1/122648
(8, 16)
AGS
Recessive
48,508,747
c.693dupC
p.Met232Hisfs*9
M232Hfs*9
0/122723
#
RVCL
Dominant
48,508,757
c.703dup
p.Val235Glyfs*6
V235Gfs*6
0/122739
(19-21)
RVCL
Dominant
48,508,760
c.706dup
p.Thr236Asnfs*5
T236Nfs*5
0/122739
(19)
RVCL
Dominant
48,508,799
c.742_745dup
p.Thr249Serfs*14
T249Sfs*14
0/122787
(19, 22)
RVCL
Dominant
48,508,861
c.807_808insG
p.Thr270Aspfs*55
T270Nfs*55
0/122701
(21)
SLE
Possibly dominant
48,508,866
c.812_813insA
A
p.Asp272Argfs*6
D272Rfs*6
0/122673
(8)
RVCL
Dominant
48,508,876
c.822delT
p.Pro275Glnfs*2
P275Qfs*2
0/122673
(23)
AGS
Recessive
48,508,893
c.839delG
p.Gly280Glufs*18
G280Efs*18
0/122473
(14)
RVCL
Dominant
48,508,904
c.850dup
p.Arg284Lysfs*41
R284Kfs*41
0/122245
(19)
RVCL
Dominant
48,508,912
c.858dup
p.Leu287Alafs*38
L287Afs*38
0/122245
(19)
AGS
Recessive
48,508,912
c.858delG
p.Leu287Cysfs*11
L287Cfs*11
0/122245
#
AGS
Recessive
48,508,922
c.868_885del
p.Pro290_Ala295de
l
P290_Ala295
del
0/122245
(11, 16)
TREX1 transcript NM_033629.2. § Cree Indian founder mutation. ¶ Variant reported in association with the c.375dup mutation in a
family with FCL, but may be a rare SNP. SS = Sjörgen’s syndrome. # Mutation reported on LOVD TREX1 database
(http://chromium.liacs.nl/LOVD2/home.php?select_db=TREX1). ExAc frequencies from
http://exac.broadinstitute.org/gene/ENSG00000213689.
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