Table 2. Sequences and main features of... | American Society of Hematology

Table 2.

Sequences and main features of NPM1 mutated childhood AML patients

Patient no.	Mutant type^*	NPM1 nucleotide and protein sequences
	Wt†	gat	ctc	tgg	cag		tag	agg	aag	tct	ctt	taa	gaa	aat	ag	F	113 900	5.0	M1	46,XX	Pos	Auto	Alive (+1.9 mo after BMT)
		D	L	W	Q		W	R	K	S	L	stop
22	A	gat	ctc	tgt	ctg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag
		D	L	C	L	A	V	E	E	V	S	L	R	K	stop
83	B	gat	ctc	tgc	atg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag	M	13 240	11.7	M6	46,XY	Neg	Allo	Alive (+1.0 mo after BMT)
		D	L	C	M	A	V	E	E	V	S	L	R	K	stop
39	D	gat	ctc	tgc	ctg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag	M	5 450	11.9	M4	46,XY	Neg	Auto	Dead (BMT related)
		D	L	C	L	A	V	E	E	V	S	L	R	K	stop
5	D	gat	ctc	tgc	ctg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag	F	7 790	17.9	M4	46,XX	Neg	Allo	Dead (BMT related)
		D	L	C	L	A	V	E	E	V	S	L	R	K	stop
82‡	E	gat	ctc	tgg	cag	tcc	ctc	gcc	caa	gtc	tct	tta	aga	aaa	tag	M	38 000	10.0	M4	46,XY	Neg	No	Alive (+1.0 mo after BMT)
		D	L	W	Q	S	L	A	Q	V	S	L	R	K	stop
19	G	gat	ctc	tgg	cag	tgc	ttc	gcc	caa	gtc	tct	tta	aga	aaa	tag	F	16 000	10.1	M2	46,XX	Neg	Allo	Alive (+5.6 mo after BMT)
		D	L	W	Q	C	F	A	Q	V	S	L	R	K	stop
3	H	gat	ctc	tgg	cag	tgt	ttt	tca	aaa	gtc	tct	ta	aga	aaa	tag	F	63 900	8.5	M2	46,XX	Neg	Auto	Alive (+21.6 mo after BMT)
		D	L	W	Q	C	F	S	K	V	S	L	R	K	stop

Patient no.	Mutant type^*	NPM1 nucleotide and protein sequences
	Wt†	gat	ctc	tgg	cag		tag	agg	aag	tct	ctt	taa	gaa	aat	ag	F	113 900	5.0	M1	46,XX	Pos	Auto	Alive (+1.9 mo after BMT)
		D	L	W	Q		W	R	K	S	L	stop
22	A	gat	ctc	tgt	ctg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag
		D	L	C	L	A	V	E	E	V	S	L	R	K	stop
83	B	gat	ctc	tgc	atg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag	M	13 240	11.7	M6	46,XY	Neg	Allo	Alive (+1.0 mo after BMT)
		D	L	C	M	A	V	E	E	V	S	L	R	K	stop
39	D	gat	ctc	tgc	ctg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag	M	5 450	11.9	M4	46,XY	Neg	Auto	Dead (BMT related)
		D	L	C	L	A	V	E	E	V	S	L	R	K	stop
5	D	gat	ctc	tgc	ctg	gca	gtg	gag	gaa	gtc	tct	tta	aga	aaa	tag	F	7 790	17.9	M4	46,XX	Neg	Allo	Dead (BMT related)
		D	L	C	L	A	V	E	E	V	S	L	R	K	stop
82‡	E	gat	ctc	tgg	cag	tcc	ctc	gcc	caa	gtc	tct	tta	aga	aaa	tag	M	38 000	10.0	M4	46,XY	Neg	No	Alive (+1.0 mo after BMT)
		D	L	W	Q	S	L	A	Q	V	S	L	R	K	stop
19	G	gat	ctc	tgg	cag	tgc	ttc	gcc	caa	gtc	tct	tta	aga	aaa	tag	F	16 000	10.1	M2	46,XX	Neg	Allo	Alive (+5.6 mo after BMT)
		D	L	W	Q	C	F	A	Q	V	S	L	R	K	stop
3	H	gat	ctc	tgg	cag	tgt	ttt	tca	aaa	gtc	tct	ta	aga	aaa	tag	F	63 900	8.5	M2	46,XX	Neg	Auto	Alive (+21.6 mo after BMT)
		D	L	W	Q	C	F	S	K	V	S	L	R	K	stop

Underlined lowercase letters indicate nucleotide insertions in the DNA sequence. The predicted protein is also shown; boldfacing indicates the positions of the 2 C-terminal tryptophan (W) residues. Underlined uppercase boldfacing indicates the new amino acid sequence at the C-terminus end of the NPM protein, common to all the mutated proteins.

All patients were CD34⁻ and were neg/neg for t(8;21)/inv(16).

Pos indicates positive; auto, autologous BMT; neg, negative; and allo, allogeneic BMT.

Provisional names are indicated for different mutant types, according to Falini et al.³

†

Wild-type sequence corresponds to nucleotides 952 to 989 of the NM_002520.

‡

Patient 82 showed a protein sequence identical to the mutant type E of Falini et al.³

View Large

This Feature Is Available To Subscribers Only