Sequence analysis of TNFAIP3 from primary PMBLs and cell line Karpas-1106P
| Sample | Nucleotide changea | Amino acid changeb | Both alleles mutated |
| Cell line | |||
| Karpas-1106P | Δ TCATC 1,037–1,041c | Frameshift aa 324 | + |
| Biopsies | |||
| 1 | Δ AG 1,294–1,295c | Frameshift aa 410 | + |
| 2 | C635M/Δ CAGAGAAAACAAA 1,959–1,971 + 8 bp (splice donor site)d | S190STOP/frameshift aa 631 | + |
| 3 | Ins A389/T2382K/A2409W/T2437Y/A2439R | Frameshift aa 108/N772K/E781D/STOP>Q/STOP>Q | n.e.e |
| 4 | T1070Y | L335STOP | − |
| 5 | − | − | − |
| 6 | − | − | − |
| 7 | − | − | − |
| 8 | − | − | − |
| 9 | − | − | − |
| 10 | − | − | − |
| 11 | − | − | − |
| 12 | − | − | − |
| 13 | − | − | − |
| Sample | Nucleotide changea | Amino acid changeb | Both alleles mutated |
| Cell line | |||
| Karpas-1106P | Δ TCATC 1,037–1,041c | Frameshift aa 324 | + |
| Biopsies | |||
| 1 | Δ AG 1,294–1,295c | Frameshift aa 410 | + |
| 2 | C635M/Δ CAGAGAAAACAAA 1,959–1,971 + 8 bp (splice donor site)d | S190STOP/frameshift aa 631 | + |
| 3 | Ins A389/T2382K/A2409W/T2437Y/A2439R | Frameshift aa 108/N772K/E781D/STOP>Q/STOP>Q | n.e.e |
| 4 | T1070Y | L335STOP | − |
| 5 | − | − | − |
| 6 | − | − | − |
| 7 | − | − | − |
| 8 | − | − | − |
| 9 | − | − | − |
| 10 | − | − | − |
| 11 | − | − | − |
| 12 | − | − | − |
| 13 | − | − | − |
Analysis was performed on whole-tissue section DNA. Δ, deletion; Ins, insertion.
Corresponding to GenBank/EMBL/DDBJ accession no. NM_006290.2.
LOH as indicated by sequence analysis; in Karpas-1106P and one mutated primary PMBL (case 1), allelic losses were identified by the detection of only the mutated alleles (Fig. S2 C).
Mutations on separate alleles as indicated by cloning of PCR product spanning both sites of mutations.
Four missense mutations (at positions 2,382–2,438) located on one allele, as indicated by cloning. Because of the long distance between the insertion (position 389) and missense mutations (positions 2,382–2,438) on genomic DNA, allelic distribution of insertion and missense mutations could not be determined.