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| Gene | FLT3 |
| Variant | M578_E598dup |
| Impact List | duplication |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | FLT3 M578_E598dup indicates the insertion of 21 duplicate amino acids, methionine (M)-578 through glutamic acid (E)-598, in the juxtamembrane domain of the Flt3 protein (PMID: 14759363). M578_E598dup has not been biochemically characterized, but can be predicted to lead to activation of Flt3 based on the effects of other Flt3 internal tandem duplication (ITD) mutations (PMID: 12970773, PMID: 9737679, PMID: 11090077). |
| Associated Drug Resistance | |
| Category Variants Paths |
FLT3 mutant FLT3 act mut FLT3 exon 14 ins FLT3 M578_E598dup FLT3 mutant FLT3 exon14 FLT3 exon 14 ins FLT3 M578_E598dup |
| Transcript | NM_004119.3 |
| gDNA | chr13:g.28034125_28034187 |
| cDNA | c.1732_1794 |
| Protein | p.M578_E598 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_004119.3 | chr13:g.28034125_28034187 | c.1732_1794 | p.M578_E598 | RefSeq | GRCh38/hg38 |
| NM_004119 | chr13:g.28034124_28034125insCTCATACTCCCTAAAGTCTACATAAAAATACTCGTTGTCGCTGCTACCTGTTACTTGTACCAT | c.1794_1795insATGGTACAAGTAACAGGTAGCAGCGACAACGAGTATTTTTATGTAGACTTTAGGGAGTATGAG | p.M578_E598dup | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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