A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.

Neda Jabbarpour,Mortaza Bonyadi,Leila Sadeghi

Molecular biology reports（2023）

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摘要

The identification of a novel pathogenic variant, c.1268G > C, revealed that this variant in the zinc-binding domain diminished the affinity of the zinc ion to the mutant protein and consequently led to the loss of its ability to bind to the RSS.

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关键词

RAG2 gene, Severe combined immune deficiencies, Zinc-binding domain, Recombination Signal sequence

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