Table 3.

Notable SERPINE1 Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein Change 2Comment [Reference]
NM_000602​.4 c.-820_-817G(4_5) 3
(4G/5G)		--Modulator variant
NM_000602​.4
NP_000593​.1 		c.699_700dupTAp.Thr234IlefsTer45Founder variant in Old Order Amish community of eastern & southern Indiana [Fay et al 1997]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

Numbering relative to full-length protein

3.

Not associated with the complete plasminogen activator inhibitor 1 (PAI-1) deficiency phenotype but can affect measured PAI-1 activity levels. A 1-bp guanine deletion/insertion variant in the SERPINE1 promoter region (rs587776796) is associated with higher transcription and activity levels and other phenotypes, including coronary artery disease (OMIM 173360).

From: Complete Plasminogen Activator Inhibitor 1 Deficiency

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