Table 2. Summary of functional assays... | American Society of Hematology

Table 2.

Summary of functional assays for FANCB missense variants

FANCB variant	Transcript stability/aberrant splicing in cells from affected individuals	Expression in null cells		Expression in insect cells		In vitro Ub
FANCB variant		Ratio of Ub/non-Ub FANCD2 after MMC	Mean cell survival at 50 nM of MMC (relative to WT)	Copurification with FANCL and FAAP100	Copurification with FANCA, FANCC, and FANCE, %	K for FANCD2 mono-Ub, % min⁻¹	K for FANCI mono-Ub, % min⁻¹
WT	Normal	1.4-2.1	1	Normal	Normal	18.47	1.1
L43S	Normal	0.2	0.2	Normal	∼30-50 of WT	6.09	0.09
F118S	*	0.6	0.6	Normal	∼20-40 of WT	6.1	0.1
L329P	Normal	0.4	0.6	Normal	Normal	11.51	0.09
W479G	Exon7 skipped in 86.5%	0.9	0.9	—	—	—	—
L676P	Normal	1.0	0.8	Normal	Normal	21.28	0.15
G750V	Unstable transcript	0.3	0.5	Normal	Normal	21.18	0.86
L717*	*	0.3	0.2	Normal	Normal	0.93	0

FANCB variant	Transcript stability/aberrant splicing in cells from affected individuals	Expression in null cells		Expression in insect cells		In vitro Ub
FANCB variant		Ratio of Ub/non-Ub FANCD2 after MMC	Mean cell survival at 50 nM of MMC (relative to WT)	Copurification with FANCL and FAAP100	Copurification with FANCA, FANCC, and FANCE, %	K for FANCD2 mono-Ub, % min⁻¹	K for FANCI mono-Ub, % min⁻¹
WT	Normal	1.4-2.1	1	Normal	Normal	18.47	1.1
L43S	Normal	0.2	0.2	Normal	∼30-50 of WT	6.09	0.09
F118S	*	0.6	0.6	Normal	∼20-40 of WT	6.1	0.1
L329P	Normal	0.4	0.6	Normal	Normal	11.51	0.09
W479G	Exon7 skipped in 86.5%	0.9	0.9	—	—	—	—
L676P	Normal	1.0	0.8	Normal	Normal	21.28	0.15
G750V	Unstable transcript	0.3	0.5	Normal	Normal	21.18	0.86
L717*	*	0.3	0.2	Normal	Normal	0.93	0

K, rate constant; MMC, mitomycin C; Ub, ubiquitination.

Cell line not available.