Many physiologic effects of l-glutamate, the major excitatory neurotransmitter in the
mammalian central nervous system, are mediated via signaling by ionotropic glutamate …

Abstract N-methyl-D-aspartate (NMDA) receptors mediate a slow component of excitatory
synaptic transmission, are widely distributed throughout the central nervous system, and …

Advances in sequencing technology have generated a large amount of genetic data from
patients with neurological conditions. These data have provided diagnosis of many rare …

Quantification of the tolerance of protein sites to genetic variation has become a cornerstone
of variant interpretation. We hypothesize that the constraint on missense variation at …

N-methyl-d-aspartate receptors (NMDARs) are members of the glutamate receptor family
and participate in excitatory postsynaptic transmission throughout the central nervous …

The short pre-M1 helix within the S1–M1 linker (also referred to as the pre-M1 linker)
between the agonist-binding domain (ABD, S1) and the M1 transmembrane helix of the …

N‐methyl‐D‐aspartate receptors (NMDAR), ionotropic glutamate receptors, mediate a slow
component of excitatory synaptic transmission in the central nervous system and play a key …

AMPA receptors are members of the glutamate receptor family and mediate a fast
component of excitatory synaptic transmission at virtually all central synapses. Thus, their …

Protein evolution is constrained by structure and function, creating patterns in residue
conservation that are routinely exploited to predict structure and other features. Similar …

Genetic variants in the genes GRIN1, GRIN2A, GRIN2B, and GRIN2D, which encode
subunits of the N-methyl-D-aspartate receptor (NMDAR), have been associated with severe …