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. Author manuscript; available in PMC: 2018 Jun 1.
Published in final edited form as: Hum Mutat. 2017 May 2;38(6):658–668. doi: 10.1002/humu.23201

Table 1.

Phenotypes of SAMHD1 variants.

SAMHD1 Variant HIV-1 Restrictiona Oligomerizationb RNA Bindingc Vpx Degradationd dNTP Levele Localizationf
WT + +++ + + Low N
p.H123P ND − + − ND N + C
p.R143C ND − + − ND N + C
p.R143H ND − + − ND N + C
p.R145Q ND − + + ND N + C
p.H167Y − − + + High N + C
p.1201 N − ++ + + High N + C
p.G209S + +++ + + Low N
p.F217C − − + + High N + C
p.R226G − + + + High N + C
p.M254V − +++ + − High N + C
p.R290H ND − + + ND N + C
p.D311A − +++ + + High N
p.L369S − ++ + + High N + C
p.M385V − − + − High N + C
p.R442X − + − High N + C
p.I448T − ++ + − High N + C
p.Q548A − +++ + + Low N + C
p.Q548X − − + − High N + C

WT, wild type

ND, Not Determined

N, Nuclear; C, Cytoplasmic

a

Restriction was measured by infecting PMA-treated U937 cells stably expressing the indicated SAMHD1 (NM_015474.3) variants with HIV-1-GFP. After 48 h, the percentage of GFP-positive cells (infected cells) was determined by flow cytometry.

b

SAMHD1-FLAG variants were assayed for their ability to oligomerize, as described in Materials and Methods. “+++” indicates 100% oligomerization, which correspond to the amount of SAMHD1-HA that oligomerizes with wild type SAMHD1-FLAG; “++” indicates ~60% of binding; “+” indicates ~30% oligomerization; “−“ indicates that oligomerization was not detected.

c

SAMHD1-FLAG variants were assayed for their ability to interact with RNA as described in Materials and Methods. “+” is the binding achieved by wild type SAMHD1.

d

Vpx-dependent degradation of each human SAMHD1 polymorphism was determined as described in Materials and Methods. “+” indicates similar Vpx-mediated SAMHD1 degradation to the one observed for wild type SAMHD1; “−“indicates that degradation was not detected.

e

The cellular dNTP levels of U937 cells stably expressing the different SAMHD1 variants were determined as described in Materials and Methods. “High” indicates that SAMHD1 is unable to decrease the levels of dNTPs. ”Low” indicates similar dNTP levels to the ones observed for U937 cells stably expressing wild type SAMHD1.

f

Subcellular localization of SAMHD1 variants was determined as described in Materials and Methods and quantified (Supp. Table S1). “N” indicates nuclear localization; “C” indicates cytoplasmic localization; “N+C” indicates localization throughout the cell.