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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Exon 3 416 A or G none A(.93) G(.07) A(.99) G(.01) Fiucci & Ruberti, 1994, C. Jackson, unpublished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Intron 5 699(+83) g or c none G(.42) C(.58) G(.33) C(.67) C. Jackson, unpublished
Exon 7 836 C or T none C(.63) T(.37) C(.66) T(.34) Fiucci & Ruberti, 1994, C. Jackson, unpublished

Back to Database of Mutations

Last Updated December 30, 2009