AlphaFold, the deep learning algorithm developed by DeepMind, recently released the three-dimensional
models of the whole human proteome to the scientific community. Here we …

GH insensitivity (GHI) presents in childhood as growth failure and in its severe form is associated
with dysmorphic and metabolic abnormalities. GHI may be caused by genetic defects in …

Macromolecular interactions are central to most cellular processes. Experimental methods
generate diverse data on these interactions ranging from high throughput protein–protein …

Familial glucocorticoid deficiency (FGD), or hereditary unresponsiveness to adrenocorticotropin
(ACTH; OMIM 202200), is an autosomal recessive disorder resulting from resistance to …

Abstract Knowledge of protein structure can be used to predict the phenotypic consequence
of a missense variant. Since structural coverage of the human proteome can be roughly …

Aldosterone-producing adenomas (APAs) are the commonest curable cause of hypertension.
Most have gain-of-function somatic mutations of ion channels or transporters. Herein we …

Many nonsynonymous single nucleotide polymorphisms (nsSNPs) are disease causing due
to effects at protein‐protein interfaces. We have integrated a database of the three‐…

Early or late pubertal onset affects up to 5% of adolescents and is associated with adverse
health and psychosocial outcomes. Self‐limited delayed puberty ( DP ) segregates …

Missense mutations at protein–protein interaction sites, called interfaces, are important
contributors to human disease. Interfaces are non-uniform surface areas characterized by two …

Background : The human protein transmembrane protease serine type 2 (TMPRSS2) plays
a key role in SARS-CoV-2 infection, as it is required to activate the virus’ spike protein, …