TAFAZZIN (Q16635) variants and mutations

TAFAZZIN (also known as Q16635) is a human protein-coding gene encoding a tafazzin protein. It remodels mitochondrial cardiolipin so the inner mitochondrial membrane can support efficient respiratory-chain organization and energy production. Loss-of-function variants cause Barth syndrome, characterized by cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and abnormal cardiolipin composition. This analysis covers 479 TAFAZZIN variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes Barth syndrome, dilated cardiomyopathy, and Abnormality of the cardiovascular system. Example TAFAZZIN variants include M1I, M1V, and P2H.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Data sources

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

Notable TAFAZZIN variants

Examples include M1I, M1V, P2H, P2T, L3M, L3L, H4Q, H4Y. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.