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Article

Functional impact of A91V mutation of the PRF1 perforin gene.

Human immunology - 1 Jan 2013

Martínez-Pomar Natalia, Lanio Nallibe, Romo Neus, Lopez-Botet Miguel, Matamoros Núria

Abstract excerpt

Perforin (PRF1) gene mutations have been associated with Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2). Substitution p.A91V (c.272C>T) in exon 2 was first described as a neutral polymorphism. Nonetheless, recent clinical evidence and functional assays, suggest a potential pathogenic role for p.A91V, especially in compound heterozygous individuals. Moreover, p.A91V homozygosity has been linked to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23073290
DOI: 10.1016/j.humimm.2012.10.011

Genes

PRF1
FHL2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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