FAS (TNFRSF6) Mutations
| Exon/Intron |
cDNA [unrelated events*] |
Amino Acid Codon |
Comments |
Ref # |
| |
|
|
|
|
| Intron 1 |
224(+1)g->a |
|
|
**NIH |
| |
|
|
|
|
| Exon 2 |
240del GC [2] |
A(-1)X |
|
14, **NIH |
| Exon 2 |
247T->G |
L2X |
|
**NIH |
| Exon 2 |
276A->G |
T12A |
(other allele also mutated) |
8 |
| Exon 2 |
366ins 7 (duplication) |
Q41fs |
5 missense codons |
14 |
| Exon 2 |
383T->A |
C47X |
|
**NIH |
| |
|
|
|
|
| Exon 3 |
413C->A |
C57X |
|
7 |
| Exon 3 |
429del G |
D62fs |
34 missense codons |
3 |
| Exon 3 |
429G->T |
E63X |
|
17 |
| Exon 3 |
438T->C |
C66R |
|
14 |
| Exon 3 |
526A->G |
H95R |
|
**NIH |
| Intron 3 |
528(+1or 2) |
P49 |
skip exon 3; in-frame del 46 codons |
12 |
| Intron 3 |
528(+2)ins t |
P49del46 |
skip exon 3 or 3 &4; in-frame del 46 codons |
3 |
| Intron 3 |
529(-2)a->g |
H95fs |
skip exon 4; 38 missense codons |
9 |
| |
|
|
|
|
| Exon 4 |
555C->T |
R105W |
|
6 |
| Exon 4 |
591delTT ins A |
F117fs |
|
**NIH |
| Intron 4 |
638(-1)g->c |
T131fs |
cryptic splice 638del 22; 32 missense codons |
15 |
| |
|
|
|
|
| Exon 5 |
669del 15 ins A |
|
|
**NIH |
| |
|
|
|
|
| Exon 6 |
762G->A |
V172M |
|
**NIH |
| Intron 6 |
763(-2)a->c |
V174fs |
cryptic splice; ins 72 codons |
3 |
| |
|
|
|
|
| Exon 7 |
779del 11 |
K181fs |
9 missense codons |
15 |
| Exon 7 |
801A->T |
R187X |
|
**NIH |
| Intron 7 |
845(+2)t->a |
P201fs |
|
14 |
| Intron 7 |
845(+2)t->c, ins 4 |
P201fs |
9 missense codons |
9 |
| Intron 7 |
846(-1)g->t |
P201fs |
skip exon 8; 3 missense (other allele also mutated) |
13 |
| |
|
|
|
|
| Exon 8 |
870G->A |
P201fs |
skip exon 8; 3 missense codons |
15 |
| Intron 8 |
870(+1)g->a [2] |
P201fs |
skip exon 8; 3 missense codons |
17, **NIH |
| Intron 8 |
870(+2)t->c [2] |
P201fs |
skip exon 8; 3 missense codons |
17, **NIH |
| Intron 8 |
871(-7)t->g |
P209fs |
cryptic splice; 4 missense codons |
14 |
| Exon/Intron |
cDNA [unrelated events*] |
Amino Acid Codon |
Comments |
Ref # |
| Exon 9 |
885ins 2 |
S214fs |
10 missense codons |
17 |
| Exon 9 |
886ins T |
S214fs |
25 missense codons |
5 |
| Exon 9 |
889A->G |
Y216C |
|
6 |
| Exon 9 |
915A->C |
T225P |
|
3 |
| Exon 9 |
916C->A |
T225K |
|
15 |
| Exon 9 |
921ins 4 |
L226fs |
2 missense codons |
17 |
| Exon 9 |
939G->C |
V233L |
|
17 |
| Exon 9 |
942C->T [3] |
R234X |
*** |
5, **NIH |
| Exon 9 |
943G->A |
R234Q |
*** |
15 |
| Exon 9 |
943G->C [2] |
R234P |
*** |
15, 17 |
| Exon 9 |
951G->A |
G237S |
|
17 |
| Exon 9 |
952G->A |
G237D |
|
17 |
| Exon 9 |
964C->A |
A241D |
|
7 |
| Exon 9 |
970T->G |
I243R |
|
17 |
| Exon 9 |
972G->T |
D244Y |
|
5 |
| Exon 9 |
973A->T |
D244V |
|
10 |
| Exon 9 |
973A->G |
D244G |
|
14 |
| Exon 9 |
979T->A |
I246N |
|
**NIH |
| Exon 9 |
997A->C |
Q252P |
|
11 |
| Exon 9 |
1001del CA |
D253fs |
24 missense codons |
4 |
| Exon 9 |
1003C->T |
T254I |
|
14 |
| Exon 9 |
1003C->A |
T254K |
|
17 |
| Exon 9 |
1008G->A |
E256K |
|
17 |
| Exon 9 |
1009A->G |
E256G |
|
16 |
| Exon 9 |
1011C->T |
Q257X |
|
3 |
| Exon 9 |
1020C->T |
Q260X |
|
15 |
| Exon 9 |
1024del T |
L261R |
|
**NIH |
| Exon 9 |
1074del T |
T277fs |
|
15 |
| Exon 9 |
1078del 7 ins 6 |
I279fs |
|
**NIH |
| Exon 9 |
1082del A |
K280fs |
63 missense codons |
17 |
| Exon 9 |
1110del 289 |
A285fs |
undetectable mRNA (11missense codons); homozygous |
4 |
| Exon 9 |
1123T->G [2] |
I294S |
|
6, **NIH |
| Exon 9 |
1126del 22 ins 6 |
I294fs |
1missense codon |
17 |
* = Mutations recurring in unrelated families
**NIH = in press
*** = cDNA 942-943 CG is a hotspot for mutations.
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