Table 2.
Point mutations identified in MDS sample
| Functional missense database | ||||||||
|---|---|---|---|---|---|---|---|---|
| Name | Chr. | Depth | SIFT | PolyPhen2 | LJB_PhyloP | LJB MutationTaster | LJB_LRT | AA Change |
| EZH2 | 7 | 49 | 0.06 | 0.926 | 0.9839 | 0.9995 | 1.0 | E210K |
| HECW2 | 2 | 61 | 0.06 | 0.002 | 0.03258 | 0.005 | 0.0318 | V701M |
| GATA-1 | X | 21 | 0 | 0.944 | 0.99824 | 0.9999 | 1.0 | R293Q |
Three mutations were not identified in SNP database (dbSNP130 and 1000G_ALL)
Chr chromosome, SIFT sorting intolerant from tolerant, PolyPhen2 polymorphism phenotyping v2, LJB_PhyloP pathogenicity score from dbNSFP, LJB_MutationTaster pathogenicity probability score from dbNSFP, LJB_LRT pathogenicity probability score from dbNSFP, AA amino acid.