Mutation data of the TNFRSF6/APT1/FAS gene

Mutation type*1 Mutation position Length of affected nucleotides Nucleotide sequence after mutation Mutation name Case # Consequence Disease Onset Age Gender Lymphoproliferation Autoimmunity Excess CD4-/CD8-Tcells Apoptosis Impairment/Ab:Fas Reference Compound Heterozygote
N 219 1 A C57X 1 TGC-TGA at ntd 219 -> Cys-Stop at codon 57 Autoimmune lymphoproliferative syndrome 3y Female lymphadenopathy, hepatosplenomegaly Guillain-Barre syndrome CD3+CD4-8-TCRa/b+=15 21 Sneller,M.C. et al. Blood 89,1341(1997) -
M 244 1 C C66R 1 TGC-CGC at ntd 244 -> Cys-Arg at codon 66 Canale-Smith syndrome 2.5y Female lymphadenopathy, hepatosplenomegaly Hemolytic anemia, membranous nephropathy increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
M 361 1 T R105W 1 CGG-TGG at ntd 361 -> Arg-Trp at codon 105 Autoimmune lymphoproliferative syndrome 1m Male splenomegaly, lymphadenopathy hypergammaglobulinemia CD4-8-TCRa/b+=41 7 Bettinardi,A. et al. Blood 89,902(1997) patient 1
M 361 1 T R105W 1 CGG-TGG at ntd 361 -> Arg-Trp at codon 105 Autoimmune lymphoproliferative syndrome 1y6m Male splenomegaly, lymphadenopathy Autoimmune hemolytic anemia, thrombocytopenia CD4-8-TCRa/b+=45 7 Bettinardi,A. et al. Blood 89,902(1997) patient 2
M 361 1 T R105W 1 CGG-TGG at ntd 361 -> Arg-Trp at codon 105 Autoimmune lymphoproliferative syndrome 1y Male splenomegaly, lymphadenopathy ND*2 CD4-8-TCRa/b+=37 7 Bettinardi,A. et al. Blood 89,902(1997) patient 3
M 695 1 G Y216C 1 TAT-TGT at ntd 695 -> Tyr-Cys at codon 216 Autoimmune lymphoproliferative syndrome 1m Male splenomegaly, lymphadenopathy hypergammaglobulinemia CD4-8-TCRa/b+=41 7 Bettinardi,A. et al. Blood 89,902(1997) patient 1
M 695 1 G Y216C 1 TAT-TGT at ntd 695 -> Tyr-Cys at codon 216 Autoimmune lymphoproliferative syndrome 1y6m Male splenomegaly, lymphadenopathy Autoimmune hemolytic anemia, thrombocytopenia CD4-8-TCRa/b+=45 7 Bettinardi,A. et al. Blood 89,902(1997) patient 2
M 695 1 G Y216C 1 TAT-TGT at ntd 695 -> Tyr-Cys at codon 216 Autoimmune lymphoproliferative syndrome 1y Male splenomegaly, lymphadenopathy ND CD4-8-TCRa/b+=37 7 Bettinardi,A. et al. Blood 89,902(1997) patient 3
M 722 1 A T225K 1 ACA-AAA at ntd 722 -> Thr-Lys at codon 225 Autoimmune lymphoproliferative syndrome 5y ND lymphadenopathy, hepatosplenomegaly ND CD3+CD4-8-TCRa/b+=8_18 0 Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) -
M 721 1 C T225P 1 ACA-CCA at ntd 721 -> Thr-Pro at codon 225 Autoimmune lymphoproliferative syndrome 5y Male adenopathy, spleen enlargement hemolytic anemia, urticarial rash, neutropenia, thrombocytopenia CD3+CD4-8-=15 10 Fisher,G.H. et al. Cell 81,935(1995) -
M 749 1 A R234Q 1 CGA-CAA at ntd 749 -> Arg-Gln at codon 234 Autoimmune lymphoproliferative syndrome 2y ND lymphadenopathy, hepatosplenomegaly ND CD3+CD4-8-TCRa/b+=2 0 Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) -
M 749 1 C R234P 1 CGA-CCA at ntd 749 -> Arg-Pro at codon 234 Canale-Smith syndrome Neonate Female ND Severe Autoimmune hemolytic anemia, rashes(s), neutropenia, thrombocytopenia increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
N 748 1 T R234X 1 CGA-TGA at ntd 748 -> Arg-Stop at codon 234 Autoimmune lymphoproliferative syndrome 4m Male splenomegaly, lymphadenopathy hemolytic anemia, neutropenia, thrombocytopenia, hypergammaglobulinemia CD3+CD4-8-=>20 11 Drappa,J. et al. N.Engl.J.Med. 335,1643(1996) -
M 770 1 A A241D 1 GCC-GAC at ntd 770 -> Ala-Asp at codon 241 Autoimmune lymphoproliferative syndrome 4m Female lymphadenopathy, hepatosplenomegaly hemolytic anemia CD3+CD4-8-TCRa/b+=13 21 Sneller,M.C. et al. Blood 89,1341(1997) -
M 779 1 G D244G 1 GAT-GGT at ntd 779 -> Asp-Gly at codon 244 Canale-Smith syndrome Neonate Male lymphadenopathy, hepatosplenomegaly Autoimmune hemolytic anemia, thrombocytopenia increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
M 779 1 T D244V 1 GAT-GTT at ntd 779 -> Asp-Val at codon 244 Autoimmune lymphoproliferative syndrome Neonate Male hepatosplenomegaly, adenopathy hemolytic anemia CD4-8-TCRa/b+=2.1 1 Infante,A.J. et al. J.Pediatr. 133,629(1998) -
M 778 1 T D244Y 1 GAT-TAT at ntd 778 -> Asp-Tyr at codon 244 Autoimmune lymphoproliferative syndrome 7m Male massive lymphadenopathy Autoimmune hemolytic anemia, thrombocytopenia CD3+CD4-8-=>20 13 Drappa,J. et al. N.Engl.J.Med. 335,1643(1996) -
M 809 1 T T254I 1 ACA-ATA at ntd 809 -> Thr-Ile at codon 254 Canale-Smith syndrome Neonate Female lymphopenia, lymphoadenopathy neutropenia, Autoimmune hemolytic anemia, recurrent painful oral ulceration, premature ovarian failure(s) increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
N 817 1 T Q257X 1 CAG-TAG at ntd 817 -> Gln-Stop at codon 257 Autoimmune lymphoproliferative syndrome 2m Male adenopathy, spleen enlargement hemolytic anemia, urticarial rash, neutropenia, thrombocytopenia CD3+CD4-8-=16 NoDATA Fisher,G.H. et al. Cell 81,935(1995) -
N 826 1 T Q260X 1 CAA-TAA at ntd 826 -> Gln-Stop at codon 260 Autoimmune lymphoproliferative syndrome 11m ND lymphadenopathy, splenomegaly hemolytic anemia CD3+CD4-8-TCRa/b+=6_9 0 Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) -
M 929 1 G I294S 1 ATT-AGT at ntd 929 -> Ile-Ser at codon 294 Autoimmune lymphoproliferative syndrome 4m Female lymphadenopathy, hepatosplenomegaly hemolytic anemia, neutropenia CD3+CD4-8-TCRa/b+=11 18 Sneller,M.C. et al. Blood 89,1341(1997) -
S 334+2 0 T 334+1insT 1 1-bp ins T at ntd 334+1 -> splice doner site change after codon 95; abberant splicing Autoimmune lymphoproliferative syndrome 18m Female adenopathy, spleen enlargement hemolytic anemia, urticarial rash, thrombocytopenia, glomerulitis CD3+CD4-8-=40 40 Fisher,G.H. et al. Cell 81,935(1995) -
FI 165 0 GGCCAAT 165ins7 1 7-bp ins GGCCAAT at ntd 165 -> frameshift at codon 42 Canale-Smith syndrome 2y Male lymphadenopathy, hepatosplenomegaly urticarial rashes, Autoimmune hemolytic anemia, thrombocytopenia increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
FI 692 0 T 692insT 1 1-bp ins T at ntd 692 -> frameshift at codon 215 Autoimmune lymphoproliferative syndrome 15y? Female lymphadenopathy hypergammaglobulinemia, thrombocytopenia CD3+CD4-8-=>20 3 Drappa,J. et al. N.Engl.J.Med. 335,1643(1996) -
FD 46 2   46delGC 1 2-bp del GC at ntd 46 -> frameshift at codon -2 Canale-Smith syndrome 4y Male lymphadenopathy Guillain-Barre syndrome, Autoimmune hemolytic anemia, thrombocytopenia increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
FD 235 1   235delG 1 1-bp del G at ntd 235 -> frameshift at codon 62 Autoimmune lymphoproliferative syndrome 6m Male adenopathy, spleen enlargement urticarial rash, neutropenia, thrombocytopenia CD3+CD4-8-=30 45 Fisher,G.H. et al. Cell 81,935(1995) -
FD 809 2   809delCA 1 2-bp del CA at ntd 809 -> frameshift at codon 253 Autoimmune lymphoproliferative syndrome 5y Female hepatosplenomegaly neutropenia, thrombocytopenia, hypergammaglobulinemia CD3+CD4-8-=41 20 Rieux-Laucat,F. et al. SCIENCE 268,1347(1995) -
FD 809 2   809delCA 1 2-bp del CA at ntd 809 -> frameshift at codon 253 Autoimmune lymphoproliferative syndrome Neonate Male hepatosplenomegaly hemolytic anemia, autoimmune thrombocytopenia, hypergammaglobulinemia CD3+CD4-8-=38 20 Rieux-Laucat,F. et al. SCIENCE 268,1347(1995) -
FD 880 1   880delT 1 1-bp del T at ntd 880 -> frameshift at codon 277 Autoimmune lymphoproliferative syndrome 1y ND lymphadenopathy, splenomegaly hemolytic anemia, glomerulonephritis, immune-mediated thrombocytopenia purpura, autoimmune neutropenia CD3+CD4-8-TCRa/b+=7_19 5 Jackson,C.E. et al. Am.J.Hum.Genet. 64,1002(1999) -
S 569-2 1 C 549-2A->C 1 ntd 562-2 A-C -> splice acceptor site change after codon 173; abbebant splicing Autoimmune lymphoproliferative syndrome 2y Male adenopathy, spleen enlargement urticarial rash, neutropenia CD3+CD4-8-=18 45 Fisher,G.H. et al. Cell 81,935(1995) -
S 651+2 1 A 651+2T->A 1 ntd 651+2 T-A -> splice doner site change after codon 201; frameshift, termination at position 209 Canale-Smith syndrome Neonate Male lymphadenopathy, hepatosplenomegaly Hemolytic anemia, urticarial rash, thrombocytopenia increase <40% of ctrl Vaishnaw,A.K. et al. J.Clin.Invest. 103,355(1999) -
LD 916 290   916del290 1 Large Deletion in Exon 9 Autoimmune lymphoproliferative syndrome Neonate Female hepatosplenomegaly autoimmune thrombocytopenia, hypergammaglobulinemia CD3+CD4-8-=70 NotDetect Rieux-Laucat,F. et al. SCIENCE 268,1347(1995) -

*1 Abbreviations are as follows: M, Missense; N, Nonsense; FI, Frameshift Insertion; FD, Frameshift Deletion; S, Splicing; LD, Large Deletion.
*2 Abbreviation is as follows: ND, Not Described.






Last updated 19 July 1999