Table 2. In vitro V(D)J recombination... | American Society of Hematology

Table 2.

In vitro V(D)J recombination assay with RAG1mutants causing Omenn syndrome

RAG1	pHRecCJ (coding joints)			pHRecSJ (signal joints)
RAG1	Blue col	Total	R(× 10⁻³)^*	Blue col	Total	R(× 10⁻³)^†
Wild type	39	11 800	9.9	560	53 360	10.5
L732F	0	66 500	< 0.01	0	930 000	< 0.001
R973H	0	66 000	< 0.01	1	17 220	0.06
ΔT631	24	44 320	1.6	42	36 000	1.16
R404W	0	64 000	< 0.01	0	876 000	< 0.001
S875FS³	0	117 000	< 0.008	1	36 960	0.03
R474H	8	78 300	0.30	0	24 400	< 0.04
G720C	0	27 000	< 0.03	0	22 000	< 0.04
R624H	0	117 000	< 0.008	0	7000	< 0.14
K992E	0	31 500	< 0.03	0	15 000	< 0.06
K86FS	0	19 840	< 0.05	0	15 400	< 0.06
Y333X	1	67 800	0.04	0	27 600	< 0.03

RAG1	pHRecCJ (coding joints)			pHRecSJ (signal joints)
RAG1	Blue col	Total	R(× 10⁻³)^*	Blue col	Total	R(× 10⁻³)^†
Wild type	39	11 800	9.9	560	53 360	10.5
L732F	0	66 500	< 0.01	0	930 000	< 0.001
R973H	0	66 000	< 0.01	1	17 220	0.06
ΔT631	24	44 320	1.6	42	36 000	1.16
R404W	0	64 000	< 0.01	0	876 000	< 0.001
S875FS³	0	117 000	< 0.008	1	36 960	0.03
R474H	8	78 300	0.30	0	24 400	< 0.04
G720C	0	27 000	< 0.03	0	22 000	< 0.04
R624H	0	117 000	< 0.008	0	7000	< 0.14
K992E	0	31 500	< 0.03	0	15 000	< 0.06
K86FS	0	19 840	< 0.05	0	15 400	< 0.06
Y333X	1	67 800	0.04	0	27 600	< 0.03

FS indicates frameshift mutation; X, nonsense mutation.

R (coding joints) = 3 × (Blue col)/(Total) × 1000.

R (signal joints) = (Blue col)/(Total) × 1000.