Intramural Research
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Autoimmune Lymphoproliferative Syndrome Database (ALPSbase)
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FAS (TNFRSF6) Mutations (continued)
| 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.
Comments, suggestions and problems to bioinformatics@nhgri.nih.gov
