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. 2023 Nov 7;33(4):355–373. doi: 10.1093/hmg/ddad188

Table 2.

Screen for constitutive activity of GRID1 and GRID2 human variants.

Constitutive activity
(NMDG+− Baseline)
nA (n)
d-Serine effecta
(Baseline −10 mM d-Serine)
nA (n)
Pentamidine effecta
(Baseline −100 μM Pentamidine)
nA (n)
GluD1-WT 200 ± 60 (13) 2.3 ± 2.9 (13) 37 ± 11 (14)
GluD1-R341Q 230 ± 130 (6) 7.2 ± 1.8 (6) 64 ± 15 (6)
GluD1-S647F 190 ± 100 (10) 14 ± 3.8 (10) −47 ± 11 (10)
GluD1-T649I 140 ± 76 (9) 8.9 ± 1.2 (9) −45 ± 9.5 (9)
GluD1-A650T 2220 ± 410 (12)* 810 ± 130 (12)* −1090 ± 200 (12)*
GluD1-N651S 100 ± 43 (10) 7.6 ± 1.6 (10) 38 ± 8.3 (10)
GluD2-WT 18 ± 1.6 (14) −3.6 ± 1.0 (14) 3.6 ± 4.8 (14)
GluD2-D535E 56 ± 23 (12) −5.8 ± 2.4 (12) −0.67 ± 1.1 (12)
GluD2-S646P 28 ± 23 (11) 5.2 ± 6.0 (11) 6.5 ± 5.4 (11)
GluD2-T649A 113 ± 14 (13) −35 ± 5.6 (14) −18 ± 4.8 (14)
GluD2-T649M b 37 ± 11 (16) −0.31 ± 2.8 (16) 5.8 ± 7.0 (16)
GluD2-A654D 740 ± 110 (12)* −29 ± 10 (14) −700 ± 160 (14)
GluD2-A654T c 1300 ± 160 (14)* −1000 ± 130 (14)* −930 ± 130 (14)*
GluD2-L656V 1040 ± 140 (12)* −460 ± 53 (12)* −640 ± 190 (12)*
GluD2-R710W 27.7 ± 2.3 (11) −2.3 ± 0.60 (11) 0.82 ± 1.9 (11)

Data are mean ± SEM (n).

*Indicates P < 0.05, One way ANOVA, Dunnett’s multiple comparisons test.

aPositive values indicate an increase of activity and negative values indicate a decrease of activity.

bThis was found in gnomAD.

cThis is the constitutively active lurcher mutation.