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This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity.
Insufficiently evaluated pathogenic
(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)
Summary of published research, and additional commentary
E288V and E366K comprise the PiS and PiZ variants of Alpha 1-antitrypsin. An individual heterozygous or homozygous at these two positions is at increased risk for Alpha-1-antitrypsin deficiency.
Fregonese L, Stolk J. Hereditary alpha-1-antitrypsin deficiency and its
clinical consequences. Orphanet J Rare Dis. 2008 Jun 19;3:16. Review. PubMed
PMID: 18565211; PubMed Central PMCID: PMC2441617.
Edited in this revision:
hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr14:94847262
This individual has the PiSZ genotype, placing him at increased risk for Alpha-1-antitrypsin deficiency. Smoking and alcohol consumption should be limited.