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Table 3 Analysis of the Unclassified BMPR2 Sequence Variants by use of computer prediction programs

From: Hemodynamic and clinical onset in patients with hereditary pulmonary arterial hypertension and BMPR2 mutations

Unclassified variant

Localization

MutationTaster prediction

Conservation across different species

ESEfinder prediction

Clinical classification according to family history

p.A154G

Transmembrane domain

Disease causing

conserved

Not affected

IPAH

p.E386G

Serine/threonine kinase domain

Disease causing

conserved

SF2/ASF-& SRp40-site affected

IPAH

p.D487V

Serine/threonine kinase domain

Disease causing

conserved

Not affected

PAH with familial history