Somatic FAS mutations
| Patient . | Nucleotide change . | Location . | Predicted amino acid change . | Effect . |
|---|---|---|---|---|
| 43 | 825G→T | Exon 7 | E195X* | NMD, haploinsuffiency |
| 84 | 846(−9)_847del 11 | Intron 7 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect |
| 135 | 846(−1)g→t | Intron 7 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect† |
| 228 | 972G→A | Exon 9 | D244N* | Diminished FADD binding; dominant negative effect† |
| 235 | 870(+1)g→a | Intron 8 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect† |
| 241 | 862_869del8 | Exon 8 | N207RfsX3* | NMD,‡ haploinsuffiency |
| 108 | 870G→T | Exon 8 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect§ |
| 164 | 851_852delAG | Exon 8 | V204Gfs6* | NMD,‡ haploinsuffiency |
| 256 | 865T→G | Exon 8 | L208X* | NMD,‡ haploinsuffiency |
| 262 | 526A→G | Exon 3 | H95R* | Decreased FasL binding; dominant-negative effect‖ |
| 263 | 846(−1)g→a | Intron 7 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect§ |
| 276 | 876_880del5 | Exon 9 | D212EfsX2* | Premature termination in exon 9; dominant-negative effect |
| Patient . | Nucleotide change . | Location . | Predicted amino acid change . | Effect . |
|---|---|---|---|---|
| 43 | 825G→T | Exon 7 | E195X* | NMD, haploinsuffiency |
| 84 | 846(−9)_847del 11 | Intron 7 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect |
| 135 | 846(−1)g→t | Intron 7 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect† |
| 228 | 972G→A | Exon 9 | D244N* | Diminished FADD binding; dominant negative effect† |
| 235 | 870(+1)g→a | Intron 8 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect† |
| 241 | 862_869del8 | Exon 8 | N207RfsX3* | NMD,‡ haploinsuffiency |
| 108 | 870G→T | Exon 8 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect§ |
| 164 | 851_852delAG | Exon 8 | V204Gfs6* | NMD,‡ haploinsuffiency |
| 256 | 865T→G | Exon 8 | L208X* | NMD,‡ haploinsuffiency |
| 262 | 526A→G | Exon 3 | H95R* | Decreased FasL binding; dominant-negative effect‖ |
| 263 | 846(−1)g→a | Intron 7 | E202MfsX4 (splice mutation)* | Deletion of exon 8 and frameshifting plus premature termination in exon 9; dominant-negative effect§ |
| 276 | 876_880del5 | Exon 9 | D212EfsX2* | Premature termination in exon 9; dominant-negative effect |
Predicted protein based on change in nucleotide sequence.
Protein based on previously observed mutation in germline ALPS and predicted result.
NMD, nonsense-mediated decay.
870G→A and 846(−1)g→t have been in observed in ALPS type Ia.
Previously found to result in decreased FasL binding in patients with ALPS type Ia (A. Hsu, unpublished data, January 2004).