FHL1 (Q13642) variants and mutations

FHL1 (also known as Q13642) is a human protein-coding gene encoding a four and a half LIM domains protein 1 protein. It organizes protein complexes in striated muscle and participates in mechanosensing, sarcomere structure, and transcriptional responses. X-linked pathogenic variants cause a spectrum including reducing-body myopathy, Emery-Dreifuss muscular dystrophy, scapuloperoneal myopathy, and cardiomyopathy. This analysis covers 630 FHL1 variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes X-linked myopathy with postural muscle atrophy, myopathy, reducing body, X-linked, early-onset, severe, and myopathy, reducing body, X-linked, childhood-onset. Example FHL1 variants include M1T, M1K, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable FHL1 variants

Examples include M1T, M1K, A2T, A2V, A2S, A2P, A2A, E3*. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.