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Table 2 Pathogenic and likely pathogenic mutations in PAH-related genes except for EIF2AK4

From: Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

Patient Gene Transcript Exon/Intron Nucleotide change Protein change De novo Pathogenicity Ref PMID MAF
PAH1 BMPR2 NM_001204 exon5 c.551dupA p.His184fs NA P NA NA
PAH10 BMPR2 NM_001204 exon6 c.793_796del p.Glu265fs NA P NA NA
PAH17 BMPR2 NM_001204 exon6 c.631C > T p.Arg211Term NA P NA NA
PAH25 ACVRL1 NM_001077401 exon6 c.994A > T p.Lys332Term NA P NA NA
PAH27 BMPR2 NM_001204 exon3 c.338dupA p.Tyr113_Arg114delinsTerm NA P NA NA
PAH31 BMPR2 NM_001204 exon4 c.439C > T p.Arg147Term NA P 11,115,378 8.96 × 10−6
PAH34 BMPR2 NM_001204 exon6 c.705delA p.Asn236fs NA P NA NA
PAH39 NOTCH3 NM_000435 exon11 c.1493–2- > C   NA P NA 9.78 × 10−5
PAH42 BMPR2 NM_001204 exon7 c.893delG p.Val299Term NA P NA NA
PAH43 BMPR2 NM_001204 exon1 c.71_76del p.24_26del NA LP NA NA
PAH46 BMPR2 NM_001204 exon6 c.631C > T p.Arg211Term De novo P 11,115,378 NA
PAH47 BMPR2 NM_001204 exon12 c.2567delC p.Thr856fs NA P NA NA
PAH51 BMPR2 NM_001204 exon10 c.1372C > T p.Gln458Term NA P 21,737,554 NA
PAH67 BMPR2 NM_001204 exon7 c.944 T > C p.Leu315P De novo LP NA NA
PAH75 BMPR2 NM_001204 exon8 c.1089delG p.Val364fs Inherited P NA NA
PAH76 BMPR2 NM_001204 exon1 c.47G > A p.Trp16Term NA P 15,687,131 NA
PAH86 ACVRL1 NM_001077401 exon9 c.1450C > T p.Arg484Trp De novo P 11,484,689 NA
PAH95 ENG NM_000118 exon3 c.247C > T p.Gln83Term NA P 15,517,393 NA
PAH98 BMPR2 NM_001204 exon6 c.631C > T p.Arg211Term NA P 11,015,450 NA
PAH102 BMPR2 NM_001204 exon12 c.1730 T > A p.Leu577Term NA LP NA NA
PAH110 BMPR2 NM_001204 exon11 c.1471C > T p.Arg491Trp NA LP NA NA
PAH117 BMPR2 NM_001204 exon2 c.178 T > C p.Cys60Arg NA LP NA NA
PAH123 BMPR2 NM_001204 intron3 c.418 + 4A > G   NA LP NA NA
PAH137 ACVRL1 NM_001077401 exon9 c.1450C > T p.Arg484Trp NA P 11,484,689 NA
PAH138 BMPR2 NM_001204 exon9 c.1249insAT p.Phe417fs NA P NA NA
PAH143 BMPR2 NM_001204 exon12 c.1789C > T p.Arg597Term NA P NA NA
PAH150 BMPR2 NM_001204 exon8 c.994C > T p.Arg332Term NA P 11,015,450 NA
PAH153 BMPR2 NM_001204 exon12 c.2617C > T p.Arg873Term NA P 10,903,931 NA
PAH155 BMPR2 NM_001204 exon12 c.1789C > T p.Arg597Term NA P NA NA
PAH159 BMPR2 NM_001204 exon12 c.2470C > T p.Gln824Term Inherited LP NA NA
PAH163 BMPR2 NM_001204 exon12 c.2522 delA p.His841fs NA P 18,356,561 NA
PAH166 BMPR2 NM_001204 exon12 c.2710_2831dup p.Ala945fs NA P NA NA
PAH168 ENG NM_000118 exon12 c.1503_1504insG p.Gly501fs NA P NA NA
PAH176 BMPR2 NM_001204 exon6 c.631C > T p.Arg211Term NA P 11,015,450 NA
PAH177 BMPR2 NM_001204 exon6 c.631C > T p.Arg211Term NA P 11,015,450 NA
PAH178 BMPR2 NM_001204 exon6 c.713_714del p.238_238del Inherited LP NA NA
PAH182 ACVRL1 NM_001077401 exon7 c.1232G > A p.Arg411Gln Inherited LP 8,640,225 6.55 × 10−5
PAH183 BMPR2 NM_001204 intron6 IVS6 + 3A > C   NA LP NA NA
PAH184 BMPR2 NM_001204 exon4 c.439C > T p.Arg147Term NA LP 11,115,378 8.96 × 10−6
PAH187 BMPR2 NM_001204 exon8 c.1089delG p.Leu363fs NA P NA NA
PAH188 ACVRL1 NM_001077401 exon7 c.1121G > A p.Arg374Gln NA LP 12,700,602 4.49 × 10− 5
PAH189 ACVRL1 NM_001077401 exon3 c.372delC p.Gly124fs De novo P NA NA
PAH192 BMPR2 NM_001204 exon12 c.2268_2269insA p.Thr756fs NA P NA NA
PAH194 BMPR2 NM_001204 exon9 c.1243G > A p.Glu415Lys NA LP NA NA
PAH195 BMPR2 NM_001204 exon9 c.1161delG p.Val387fs De novo P NA NA
PAH207 BMPR2 NM_001204 exon7 c.901 T > C p.Ser301Pro De novo LP 16,429,395 NA
  1. fs frame shift, NA not available, LP likely pathogenic, P pathogenic, ref. PMID reference PubMed unique identifier, MAF minor allele frequency in the Genome Aggregation Database (gnomAD)