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Table 2 Rare predicted deleterious FBLN2 and PDGFD variants* among 4175 PAH cases**

From: Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Case ID Sex Agedx PAH subclass Ancestry Gene *** Exon Nucleotide change Amino acid change Variant type MAF (gnomAD exomes) CADD score Revel
08-018 F 70 IPAH EUR FBLN2 12 c.2639G>T p.(Gly880Val) D-Mis 1.63E−05 27.1 0.94
17-035 F 41 APAH EAS FBLN2 12 c.2666G>A p.(Gly889Asp) D-Mis 27.6 0.94
12-207 F 44 IPAH EUR FBLN2 13 c.2794T>C p.(Phe923Leu) D-Mis 2.11E−05 29.6 0.92
23-001 M 66 IPAH EUR FBLN2 14 c.2944G>T p.(Asp982Tyr) D-Mis 1.88E−05 34.0 0.95
29-031 F 57 IPAH EUR FBLN2 14 c.2944G>T p.(Asp982Tyr) D-Mis 1.88E−05 34.0 0.95
34-005 M 69 IPAH EUR FBLN2 14 c.2944G>T p.(Asp982Tyr) D-Mis 1.88E−05 34.0 0.95
W000210 F 52 IPAH EUR FBLN2 14 c.2944G>T p.(Asp982Tyr) D-Mis 1.88E−05 34.0 0.95
W000073 F 40 IPAH AFR PDGFD 2 c.166G>A p.(Gly56Ser) D-Mis 1.99E−05 22.9 0.64
JM950 F 2 IPAH EUR PDGFD 2 c.250C>T p.(Arg84Trp) D-Mis 1.59E−05 16.4 0.51
E012465 F 55 IPAH EUR PDGFD 3 c.385G>A p.(Glu129Lys) D-Mis 25.2 0.262
E014342 F 40 IPAH EUR PDGFD 3 c.385G>A p.(Glu129Lys) D-Mis 25.2 0.262
E014400 F 43 IPAH EUR PDGFD 3 c.442G>A p.(Asp148Asn) D-Mis 7.97E−06 25.2 0.41
E000844 F 39 IPAH EUR PDGFD 6 c.770T>C p.(Leu257Pro) D-Mis 4.01E−06 31.0 0.62
13-037 M 43 DTOX EUR PDGFD 6 c.883C>T p.(Arg295Cys) D-Mis 4.00E−06 35.0 0.56
23-025 F 41 IPAH EUR PDGFD 6 c.926C>G p.Ser309Cys D-Mis 28.4 0.22
E000820 F 73 IPAH EUR PDGFD 6 c.961T>A p.(Tyr321Asn) D-Mis 1.21E−05 33.0 0.34
E010173 F 74 IPAH EUR PDGFD 6 c.961T>A p.(Tyr321Asn) D-Mis 1.21E−05 33.0 0.34
  1. *Rare, deleterious variants defined as gnomAD_exome_ALL AF ≤ 1.00E−04 and LGD or missense with variable REVEL cut-off (FBLN2 0.92 and PDGFD 0.22)
  2. ** Cases are heterozygous for the indicated variants
  3. ***Transcripts: FBLN2 NM_001998.3 and PDGFD NM_033135.4