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Logo of nihpaAbout Author manuscriptsSubmit a manuscriptHHS Public Access; Author Manuscript; Accepted for publication in peer reviewed journal;
 
From:
Leukemia. Author manuscript; available in PMC 2014 January 2.
Published in final edited form as:
Leukemia. 2011 January; 25(1): 10.1038/leu.2010.247.
Published online 2010 October 29. doi: 10.1038/leu.2010.247

Table 1

Characteristics of 10 primary AML samples showing PHF6 inactivation

IDSexAge (yr)FABCytogeneticsPHF6 lesion
Cooperative gene mutations
Type of alterationPredicted proteinIDH1IDH2TET2ASXL1FLT3NPM1CEBPAWT1KRASNRAS
1M60M0normalMissenseH329LWTWTWTWTTKDWTWTWTWTWT
2M45M1normalNonsenseR274XWTWTWTWTWTWTWTWTWTWT
3M722ndtri(8)FrameshiftR335fsWTWTWTA637fsWTWTWTNANANA
4M66M2tri(8)NonsenseR342XWTR140QWTWTWTWTWTNANANA
5M652ndnormalMissenseH302YWTWTWTWTWTWTWTNANANA
6M41M2tri(8)FrameshiftC20fsWTWTWTWTITDWTWTNANANA
7M742nddel(5q),-7,-20MissenseA40GWTWTWTWTITDWTH195fsNANANA
8MNAM0NAFrameshiftP200fsWTWTWTE1192XWTWTWTWTWTWT
9FNAM0*NAFrameshiftN171fsWTWTWTWTWTWTWTWTWTG12V
10MNAM0NANonsenseR319XWTR172KWTE558XWTWTP39HWTWTWT

2nd, secondary AML; TKD, tyrosine kinase domain mutation; ITD, internal tandem duplication

*Biphenotypic T-myeloid leukemia