Table 1 ELANE translational start-site... | American Society of Hematology

Table 1

ELANE translational start-site mutations

cDNA (NM_001972.2)	No. of probands	Phenotype	Kozak Sequence						References
cDNA (NM_001972.2)	No. of probands	Phenotype	a	c	c	A	T	G	References
c.-3A>T	1	Cyclic neutropenia	t						This report
c.1A>G	4	SCN				g			9, 27, 28; This report
c.2T>G	2	SCN					g		9; This report
c.3G>C	1	SCN						c	9
c.3G>A	1	SCN						a	This report

cDNA (NM_001972.2)	No. of probands	Phenotype	Kozak Sequence						References
cDNA (NM_001972.2)	No. of probands	Phenotype	a	c	c	A	T	G	References
c.-3A>T	1	Cyclic neutropenia	t						This report
c.1A>G	4	SCN				g			9, 27, 28; This report
c.2T>G	2	SCN					g		9; This report
c.3G>C	1	SCN						c	9
c.3G>A	1	SCN						a	This report