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Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)
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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 |
* = Mutations recurring in unrelated families
**NIH = in press
*** = cDNA 942-943 CG is a hotspot for mutations.
Comments, suggestions and problems to bioinformatics@nhgri.nih.gov
