LAT
Chr 16ARlinker for activation of T cells
LAT encodes a transmembrane adaptor protein that serves as a critical docking site for signaling molecules downstream of T-cell antigen receptor activation and is essential for T-cell development and function. Mutations cause autosomal recessive immunodeficiency 52, a primary immunodeficiency affecting T-cell signaling. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.66), consistent with its role in immune system development.
Definitive — sufficient evidence for diagnostic panels
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LAT · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Mapping Disease Pathways for Biliary Atresia
RECRUITINGOptimization of the Time and Dosage of Trametinib in BRAF Negative Juvenile Patients
RECRUITINGTraining Induced Muscle-Adipose EV Communication
NOT YET RECRUITINGFeasibility of ONCOhabitats for Surgical and Treatment Planning in IDH-Wildtype Glioblastoma (SINUE)
RECRUITINGPrehabilitation in Older People Undergoing Total Hip Replacement
NOT YET RECRUITINGLanguage Development Deficits and Early Interactive Music Intervention
ACTIVE NOT RECRUITINGTrial for Local Ablative Treatment (LAT) Optimization in Patients With Advanced Non-Small Cells Lung Cancer (NSCLC) Presenting an Anaplastic Lymphoma Kinase (ALK) Rearrangement Treated by Brigatinib
RECRUITINGNatural History of Autosomal Dominant Hearing Loss
RECRUITINGExternal Resources
Links to major genomics databases and tools