Autoimmune Lymphoproliferative Syndrome (ALPS)
FAS (TNFRSF6) Polymorphisms
| Exon / Intron |
cDNA |
AA change |
freq Caucasian |
freq Af Am |
Reference |
| Exon 2 |
240 G or A |
Ala or Thr (-1) |
G(.99) A(.01) |
G(.87) A(.13) |
Jackson et al. 1999 |
| Exon 3 |
416 A or G |
none |
A(.93) G(.07) |
A(.99) G(.01) |
Fiucci & Ruberti, 1994, C. Jackson, unpublished |
| Exon 4 |
559 C or T |
Thr or Ile (106) |
C(1.00) |
C(.98) T(.02) |
Jackson et al. 1999 |
| Intron 5 |
699(+83) g or c |
none |
G(.42) C(.58) |
G(.33) C(.67) |
C. Jackson, unpublished |
| Exon 7 |
836 C or T |
none |
C(.63) T(.37) |
C(.66) T(.34) |
Fiucci & Ruberti, 1994, C. Jackson, unpublished |
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