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Autoimmune Lymphoproliferative Syndrome (ALPS)

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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

Exon/Intron cDNA [unrelated events*] Amino Acid Codon Comments Ref #
Exon 9 885ins 2 S214fs 10 missense codons 17
Exon 9 886ins T S214fs 25 missense codons 5
Exon 9 889A->G Y216C   6
Exon 9 915A->C T225P   3
Exon 9 916C->A T225K   15
Exon 9 921ins 4 L226fs 2 missense codons 17
Exon 9 939G->C V233L   17
Exon 9 942C->T [3] R234X *** 5, **NIH
Exon 9 943G->A R234Q *** 15
Exon 9 943G->C [2] R234P *** 15, 17
Exon 9 951G->A G237S   17
Exon 9 952G->A G237D   17
Exon 9 964C->A A241D   7
Exon 9 970T->G I243R   17
Exon 9 972G->T D244Y   5
Exon 9 973A->T D244V   10
Exon 9 973A->G D244G   14
Exon 9 979T->A I246N   **NIH
Exon 9 997A->C Q252P   11
Exon 9 1001del CA D253fs 24 missense codons 4
Exon 9 1003C->T T254I   14
Exon 9 1003C->A T254K   17
Exon 9 1008G->A E256K   17
Exon 9 1009A->G E256G   16
Exon 9 1011C->T Q257X   3
Exon 9 1020C->T Q260X   15
Exon 9 1024del T L261R   **NIH
Exon 9 1074del T T277fs   15
Exon 9 1078del 7 ins 6 I279fs   **NIH
Exon 9 1082del A K280fs 63 missense codons 17
Exon 9 1110del 289 A285fs undetectable mRNA (11missense codons); homozygous 4
Exon 9 1123T->G [2] I294S   6, **NIH
Exon 9 1126del 22 ins 6 I294fs 1missense codon 17

* = Mutations recurring in unrelated families
**NIH = in press
*** = cDNA 942-943 CG is a hotspot for mutations.

Back to Database of Mutations

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Last Updated May 22, 2009