SMPD3 mutations within human leukemia
| Histology . | Nucleotide change . | Amino acid change . | Frequency in controls . |
|---|---|---|---|
| AML primary | |||
| AML1 | c.580G>A | Asp194Asn | 0/166 |
| AMLB5 | c.580G>A | Asp194Asn | 0/166 |
| AMLB6 | c.580G>A | Asp194Asn | 0/166 |
| LEUK139 | c.580G>A | Asp194Asn | 0/166 |
| LEUK7 | c.1519G>A | Val507Ile | 0/172 |
| ALL primary, ALL. 88-89 | c.580G>A | Asp194Asn | 0/166 |
| ALL cell line | |||
| KE37 | c.127T>C | Tyr43His | 0/171 |
| c.1073A>G | Asp358Gly | 0/176 | |
| Mk-B1 | c.284A>T | Tyr95Phe | 0/171 |
| c.1073A>G | Asp358Gly | 0/176 | |
| c.1495G>C | Glu499Gly | 0/174 | |
| JMJURKAT | c.151G>A | Asp51Asn | 0/171 |
| c.742G>A | Gly248Ser | 0/166 | |
| SUPT1 | c.584G>A | Gly195Glu | 0/166 |
| MOLT-4 | c.736C>T | Arg246Cys | 0/166 |
| SUPT11 | c.1006C>T | Arg336Cys | 0/166 |
| CCRF-CEM | c.1073A>G | Asp358Gly | 0/176 |
| Polymorphisms | |||
| Ovarian cancer | |||
| MDAH2774 | c.1850G>T | Cys617Tyr | 3/43 |
| Renal cancer | |||
| 786-O | c.1850G>T | Cys617Tyr | 3/43 |
| Myeloma | |||
| RPMI8226 | c.391C>G | Val131Leu | 0/171 |
| Histology . | Nucleotide change . | Amino acid change . | Frequency in controls . |
|---|---|---|---|
| AML primary | |||
| AML1 | c.580G>A | Asp194Asn | 0/166 |
| AMLB5 | c.580G>A | Asp194Asn | 0/166 |
| AMLB6 | c.580G>A | Asp194Asn | 0/166 |
| LEUK139 | c.580G>A | Asp194Asn | 0/166 |
| LEUK7 | c.1519G>A | Val507Ile | 0/172 |
| ALL primary, ALL. 88-89 | c.580G>A | Asp194Asn | 0/166 |
| ALL cell line | |||
| KE37 | c.127T>C | Tyr43His | 0/171 |
| c.1073A>G | Asp358Gly | 0/176 | |
| Mk-B1 | c.284A>T | Tyr95Phe | 0/171 |
| c.1073A>G | Asp358Gly | 0/176 | |
| c.1495G>C | Glu499Gly | 0/174 | |
| JMJURKAT | c.151G>A | Asp51Asn | 0/171 |
| c.742G>A | Gly248Ser | 0/166 | |
| SUPT1 | c.584G>A | Gly195Glu | 0/166 |
| MOLT-4 | c.736C>T | Arg246Cys | 0/166 |
| SUPT11 | c.1006C>T | Arg336Cys | 0/166 |
| CCRF-CEM | c.1073A>G | Asp358Gly | 0/176 |
| Polymorphisms | |||
| Ovarian cancer | |||
| MDAH2774 | c.1850G>T | Cys617Tyr | 3/43 |
| Renal cancer | |||
| 786-O | c.1850G>T | Cys617Tyr | 3/43 |
| Myeloma | |||
| RPMI8226 | c.391C>G | Val131Leu | 0/171 |