Mutation status of the IgH, CD95, PAX5, RhoH/TTF, c-MYC, and PIM1 genes
. | . | CD95 . | . | . | . | . | . | . | . | . | . | c-MYC . | . | . | . | . | . | . | . | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | . | 5′ UTR . | . | Exon 8 . | . | Exon 9 . | . | PAX5 . | . | RhoH/TTF . | . | Exon 1 . | . | Intron 1 . | . | Exon 2 . | . | PIM1 . | . | ||||||||||
| Patient . | IGH (%) . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | ||||||||||
| 1 | V3-7 (8.9) | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | ||||||||||
| 2 | V4-34 (16.6) | 0 | - | 0 | - | 0 | - | 19 | 776C>T, 848C>T, 882G>C, 1001C>T, 1017G>C, 1025G>A, 1066C>A, 1070G>A, 1074G>A, 1077C>A, 1194C>G, 1230G>C, 1349G>T, 1354G>A, 1435G>C, 1446G>A, 1449C>G, Δ(1467-1501), 1536G>T | 7 | 413G>T, 494T>C, 539C>T, 694G>C, 838C>T, 839C>G, 885C>T | 2 | 3020G>T, 3461G>C | 2 | 3627C>A, 3741G>A | 0 | - | 5 | 1909G>A: Ala→Thr, 1932G>A: Val→Val, 1969C>T: Leu→Phe, 2172C>A, 2227G>A | ||||||||||
| 3 | V3-74 (14.1) | 0 | - | 0 | - | 1 | 941T>G: Val→Val | 8 | 848C>T, 943G>A, 1046C>T, 1048C>T, 1082C>T, 1117G>A, 1382C>T, 1384C>T | 2 | 694G>A, 1098G>A | 3 | 3266G>A, 3481C>T, 3516G>A | 0 | - | 0 | - | 0 | - | ||||||||||
| 4 | - | 0 | - | 0 | - | 0 | - | 0 | - | 1 | 486T>G | 1 | 2506C>G: Ser→Cys | 0 | - | 0 | - | 0 | - | ||||||||||
| 5 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 1 | 3052C>G | 0 | - | 0 | - | 1 | 2486G>A | ||||||||||
| 6 | V1-2 (23.3) | 0 | - | 0 | - | 4 | 862A>G: Asn→Ser, 880T>A: Leu→STOP, 888T>C + 890T>C: Tyr→His | 3 | 1113C>T, 1209T>C, 1295C>T | 1 | 420T>G | 1 | 2397G>A: Glu→Lys | 0 | - | 0 | - | 0 | - | ||||||||||
| 7 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 2 | 1862T>C: Asp→Asp, 1875C>A: Phe→Leu | ||||||||||
| 8 | V3-7 (12.6) | 0 | - | 0 | - | 0 | - | 2 | 743C>A, 1017G>A | 2 | 987T>G, 1057C>T | 0 | - | 2 | 4151T>A, 4224C>T | 0 | - | 3 | 2022G>C: Glu→Asp, 2029C>G: Leu→Val, 2734G>C | ||||||||||
| 9 | V4-34 (12.2) | 0 | - | 0 | - | 0 | - | 4 | 910G>C, 1071C>T, 1193G>A, 1334C>A | 5 | 470G>C, 479G>A, 649C>T, 900G>A, 959G>A | 0 | - | 1 | 4099C>T | 0 | - | 0 | - | ||||||||||
| 10 | V3-7 (16.0) | 0 | - | 0 | - | 0 | - | 29 | 736G>A, 745G>A, Δ(846-1083), 1099G>A, 1100C>T, 1178G>A: Met*→Ile, 1182A>G: Ile→Val, 1185C>T: His→Tyr, 1189G>A, 1193G>T, 1200C>T, 1214G>T, 1259G>A, 1265G>A, 1283G>A, 1333G>C, 1334C>G, 1338C>G, 1347G>C, 1349G>A, 1353G>C, Δ(1383-1543), 1549A>C, 1558G>A, 1559G>C, 1561G>A, 1572G>A, 1573A>T, 1584G>A | 7 | 533T>G, 539G>T, 743G>A, 759C>T, 962G>A, 1056G>A, 1092G>A | 2 | 2588G>A: Trp→STOP, 2821C>A: Ser→Tyr | 1 | 3757C>A | 0 | - | 8 | 1882G>C: Glu→Gln, 1920C>G: Phe→Leu, 2023C>T: Leu→Phe, 2168C>G, 2322G>C, 2554A>C, 2636G>A, 2719C>T | ||||||||||
. | . | CD95 . | . | . | . | . | . | . | . | . | . | c-MYC . | . | . | . | . | . | . | . | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | . | 5′ UTR . | . | Exon 8 . | . | Exon 9 . | . | PAX5 . | . | RhoH/TTF . | . | Exon 1 . | . | Intron 1 . | . | Exon 2 . | . | PIM1 . | . | ||||||||||
| Patient . | IGH (%) . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | No. mutations . | Mutation type and position . | ||||||||||
| 1 | V3-7 (8.9) | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | ||||||||||
| 2 | V4-34 (16.6) | 0 | - | 0 | - | 0 | - | 19 | 776C>T, 848C>T, 882G>C, 1001C>T, 1017G>C, 1025G>A, 1066C>A, 1070G>A, 1074G>A, 1077C>A, 1194C>G, 1230G>C, 1349G>T, 1354G>A, 1435G>C, 1446G>A, 1449C>G, Δ(1467-1501), 1536G>T | 7 | 413G>T, 494T>C, 539C>T, 694G>C, 838C>T, 839C>G, 885C>T | 2 | 3020G>T, 3461G>C | 2 | 3627C>A, 3741G>A | 0 | - | 5 | 1909G>A: Ala→Thr, 1932G>A: Val→Val, 1969C>T: Leu→Phe, 2172C>A, 2227G>A | ||||||||||
| 3 | V3-74 (14.1) | 0 | - | 0 | - | 1 | 941T>G: Val→Val | 8 | 848C>T, 943G>A, 1046C>T, 1048C>T, 1082C>T, 1117G>A, 1382C>T, 1384C>T | 2 | 694G>A, 1098G>A | 3 | 3266G>A, 3481C>T, 3516G>A | 0 | - | 0 | - | 0 | - | ||||||||||
| 4 | - | 0 | - | 0 | - | 0 | - | 0 | - | 1 | 486T>G | 1 | 2506C>G: Ser→Cys | 0 | - | 0 | - | 0 | - | ||||||||||
| 5 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 1 | 3052C>G | 0 | - | 0 | - | 1 | 2486G>A | ||||||||||
| 6 | V1-2 (23.3) | 0 | - | 0 | - | 4 | 862A>G: Asn→Ser, 880T>A: Leu→STOP, 888T>C + 890T>C: Tyr→His | 3 | 1113C>T, 1209T>C, 1295C>T | 1 | 420T>G | 1 | 2397G>A: Glu→Lys | 0 | - | 0 | - | 0 | - | ||||||||||
| 7 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 0 | - | 2 | 1862T>C: Asp→Asp, 1875C>A: Phe→Leu | ||||||||||
| 8 | V3-7 (12.6) | 0 | - | 0 | - | 0 | - | 2 | 743C>A, 1017G>A | 2 | 987T>G, 1057C>T | 0 | - | 2 | 4151T>A, 4224C>T | 0 | - | 3 | 2022G>C: Glu→Asp, 2029C>G: Leu→Val, 2734G>C | ||||||||||
| 9 | V4-34 (12.2) | 0 | - | 0 | - | 0 | - | 4 | 910G>C, 1071C>T, 1193G>A, 1334C>A | 5 | 470G>C, 479G>A, 649C>T, 900G>A, 959G>A | 0 | - | 1 | 4099C>T | 0 | - | 0 | - | ||||||||||
| 10 | V3-7 (16.0) | 0 | - | 0 | - | 0 | - | 29 | 736G>A, 745G>A, Δ(846-1083), 1099G>A, 1100C>T, 1178G>A: Met*→Ile, 1182A>G: Ile→Val, 1185C>T: His→Tyr, 1189G>A, 1193G>T, 1200C>T, 1214G>T, 1259G>A, 1265G>A, 1283G>A, 1333G>C, 1334C>G, 1338C>G, 1347G>C, 1349G>A, 1353G>C, Δ(1383-1543), 1549A>C, 1558G>A, 1559G>C, 1561G>A, 1572G>A, 1573A>T, 1584G>A | 7 | 533T>G, 539G>T, 743G>A, 759C>T, 962G>A, 1056G>A, 1092G>A | 2 | 2588G>A: Trp→STOP, 2821C>A: Ser→Tyr | 1 | 3757C>A | 0 | - | 8 | 1882G>C: Glu→Gln, 1920C>G: Phe→Leu, 2023C>T: Leu→Phe, 2168C>G, 2322G>C, 2554A>C, 2636G>A, 2719C>T | ||||||||||
The indicated codon for patient 10 in PAX5 corresponds to the starting point of translation.