PMID: 26387786

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human mutation
RD Machado, L Southgate, CA Eichstaedt, MA Aldred, ED Austin, DH Best, WK Chung, N Benjamin, CG Elliott, M Eyries, C Fischer, S Gräf, K Hinderhofer, M Humbert, SB Keiles, JE Loyd, NW Morrell, JH Newman, F Soubrier, RC Trembath, RR Viales, E Grünig
2015-12

198 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-40270349-G-A EIF2AK4 c.2319+1G>A - IntronicSNV - 13/38
2-203421083-C-T BMPR2 c.2695C>T p.Arg899* Nonsense 12/13 -
2-203332344-G-A BMPR2 c.350G>A p.Cys117Tyr Missense 3/13 -
2-203395591-G-A BMPR2 c.1042G>A p.Val348Ile Missense 8/13 -
12-52309895-A-G ACVRL1 c.1124A>G p.Tyr375Cys Missense 8/10 -
9-130581089-CA-C ENG c.1334delT p.Met445Argfs*46 Frameshift 11/14 -
2-203420017-T-G BMPR2 c.1629T>G p.Tyr543* Nonsense 12/13 -
2-203420017-T-A BMPR2 c.1629T>A p.Tyr543* Nonsense 12/13 -
12-52309054-T-C ACVRL1 c.818T>C p.Leu273Pro Missense 7/10 -
12-52309186-T-C ACVRL1 c.950T>C p.Ile317Thr Missense 7/10 -
2-203332286-G-A BMPR2 c.292G>A p.Glu98Lys Missense 3/13 -
15-40253986-C-T EIF2AK4 c.745C>T p.Arg249* Nonsense 7/39 -
2-203384817-T-A BMPR2 c.860T>A p.Leu287* Nonsense 7/13 -
12-103288589-T-G PAH c.276A>C p.Thr92Thr Synonymous 3/13 -
12-52308229-G-A ACVRL1 c.632G>A p.Gly211Asp Missense 6/10 -
12-52309826-C-A ACVRL1 c.1055C>A p.Ala352Asp Missense 8/10 -
2-203407036-GG-G BMPR2 c.1279delG p.Glu427Asnfs*47 Frameshift 10/13 -
15-40313131-T-TT EIF2AK4 c.4205_4205dupT p.Ser1403Lysfs*45 Frameshift 31/39 -
2-203332290-G-T BMPR2 c.296G>T p.Cys99Phe Missense 3/13 -
2-203420369-G-T BMPR2 c.1981G>T p.Glu661* Nonsense 12/13 -
2-203384829-T-G BMPR2 c.872T>G p.Leu291* Nonsense 7/13 -
15-40289255-C-T EIF2AK4 c.2857C>T p.Gln953* Nonsense 19/39 -
9-130578270-AT-A ENG c.1804delA p.Ile602Serfs*111 Frameshift 14/14 -
12-52307459-C-T ACVRL1 c.430C>T p.Arg144* Nonsense 4/10 -
2-203417502-A-AA BMPR2 c.1477_1477dupA p.Thr493Asnfs*6 Frameshift 11/13 -
9-130587978-GCCGAG-G ENG c.682_686delTCGGC p.Ser228Argfs*104 Frameshift 5/14 -
2-203397308-G-GGA BMPR2 c.1129_1130insGA - SpliceAcceptorInsertion 9/13 -
2-203332274-T-G BMPR2 c.280T>G p.Cys94Gly Missense 3/13 -
4-96046166-G-A BMPR1B c.479G>A p.Ser160Asn Missense 8/13 -
2-203242274-G-T BMPR2 c.76+1G>T - IntronicSNV - 1/12
2-203407154-G-A BMPR2 c.1397G>A p.Trp466* Nonsense 10/13 -
2-203329537-C-T BMPR2 c.82C>T p.Gln28* Nonsense 2/13 -
12-52308250-GG-CC ACVRL1 c.653_654delinsCC p.Arg218Pro Missense 6/10 -
12-52314550-C-G ACVRL1 c.1385C>G p.Ser462* Nonsense 10/10 -
15-40280238-C-T EIF2AK4 c.2458C>T p.Arg820* Nonsense 15/39 -
9-130587538-A-T ENG c.788T>A p.Ile263Asn Missense 6/14 -
2-203397335-G-C BMPR2 c.1156G>C p.Glu386Gln Missense 9/13 -
12-52314601-G-C ACVRL1 c.1436G>C p.Arg479Pro Missense 10/10 -
12-52307114-A-G ACVRL1 c.293A>G p.Asn98Ser Missense 3/10 -
2-203332260-G-C BMPR2 c.266G>C p.Gly89Ala Missense 3/13 -
2-203332333-C-CAA BMPR2 c.339_340insAA p.Arg114Asnfs*39 Frameshift 3/13 -
15-40246151-AAAGAA-A EIF2AK4 c.560_564delAAGAA p.Lys187Argfs*9 Frameshift 5/39 -
2-203420357-C-T BMPR2 c.1969C>T p.Gln657* Nonsense 12/13 -
2-203420684-A-G BMPR2 c.2296A>G p.Thr766Ala Missense 12/13 -
12-52314601-G-A ACVRL1 c.1436G>A p.Arg479Gln Missense 10/10 -
2-203417478-G-A BMPR2 c.1453G>A p.Asp485Asn Missense 11/13 -
15-40295402-C-T EIF2AK4 c.3244C>T p.Gln1082* Nonsense 23/39 -
2-203395543-C-T BMPR2 c.994C>T p.Arg332* Nonsense 8/13 -
2-203417466-G-T BMPR2 c.1441G>T p.Glu481* Nonsense 11/13 -
2-203332371-A-G BMPR2 c.377A>G p.Asn126Ser Missense 3/13 -
2-203329633-T-C BMPR2 c.178T>C p.Cys60Arg Missense 2/13 -
2-203329633-T-G BMPR2 c.178T>G p.Cys60Gly Missense 2/13 -
2-203384918-AC-A BMPR2 c.961delC p.Arg321Glufs*14 Frameshift 7/13 -
2-203329691-TTG-AAAAGGGGACA BMPR2 c.236_238delinsAAAAGGGGACA p.Leu79Glnfs*5 Frameshift 2/13 -
2-203395675-G-T BMPR2 c.1126G>T p.Glu376* Nonsense 8/13 -
15-40308745-C-T EIF2AK4 c.3802C>T p.Gln1268* Nonsense 28/39 -
12-52309024-A-G ACVRL1 c.788A>G p.Asp263Gly Missense 7/10 -
15-40300397-G-T EIF2AK4 c.3576+1G>T - IntronicSNV - 25/38
15-40246158-G-GG EIF2AK4 c.567_567dupG p.Lys190Glufs*8 Frameshift 5/39 -
15-40257886-G-A EIF2AK4 c.860-1G>A - IntronicSNV - 7/38
2-203242245-G-A BMPR2 c.48G>A p.Trp16* Nonsense 1/13 -
15-40259919-TT-T EIF2AK4 c.1392delT p.Arg465Valfs*38 Frameshift 9/39 -
2-26915766-C-A KCNK3 c.23C>A p.Thr8Lys Missense 1/2 -
2-203242206-C-CC BMPR2 c.9_9dup p.Ser4Leufs*34 Frameshift 1/13 -
2-203395615-A-T BMPR2 c.1066A>T p.Met356Leu Missense 8/13 -
15-40293425-G-A EIF2AK4 c.3159G>A p.Lys1053Lys Synonymous 21/39 -
2-203384858-T-C BMPR2 c.901T>C p.Ser301Pro Missense 7/13 -
12-52309892-G-A ACVRL1 c.1121G>A p.Arg374Gln Missense 8/10 -
12-52312802-A-T ACVRL1 c.1280A>T p.Asp427Val Missense 9/10 -
2-203397447-T-TT BMPR2 c.1268_1268dupT p.Phe424Leufs*24 Frameshift 9/13 -
7-116199277-CC-C CAV1 c.473delC p.Pro158Hisfs*23 Frameshift 3/3 -
12-52309967-G-T ACVRL1 c.1196G>T p.Trp399Leu Missense 8/10 -
12-52309967-G-C ACVRL1 c.1196G>C p.Trp399Ser Missense 8/10 -
12-52309891-C-T ACVRL1 c.1120C>T p.Arg374Trp Missense 8/10 -
2-26950826-A-G KCNK3 c.575A>G p.Tyr192Cys Missense 2/2 -
9-130578354-A-G ENG c.1742-22T>C - IntronicSNV - 13/13
12-52309089-C-T ACVRL1 c.853C>T p.Leu285Phe Missense 7/10 -
15-40268724-T-G EIF2AK4 c.1928T>G p.Leu643Arg Missense 12/39 -
2-203329555-T-C BMPR2 c.100T>C p.Cys34Arg Missense 2/13 -
2-203329651-T-G BMPR2 c.196T>G p.Cys66Gly Missense 2/13 -
2-203407159-G-T BMPR2 c.1402G>T p.Glu468* Nonsense 10/13 -
15-40295502-C-T EIF2AK4 c.3344C>T p.Pro1115Leu Missense 23/39 -
2-26950540-G-A KCNK3 c.289G>A p.Gly97Arg Missense 2/2 -
15-40293423-GAAG-G EIF2AK4 c.3157_3159delAAG p.Lys1053delLys InFrameDeletion 21/39 -
2-203395516-G-T BMPR2 c.968-1G>T - IntronicSNV - 7/12
2-203384850-G-A BMPR2 c.893G>A p.Trp298* Nonsense 7/13 -
2-203384926-T-C BMPR2 c.967+2T>C - IntronicSNV - 7/12
12-5154761-TA-T KCNA5 c.1448delA p.Tyr483Serfs*4 Frameshift 1/1 -
2-203417481-C-T BMPR2 c.1456C>T p.Gln486* Nonsense 11/13 -
2-203417477-G-A BMPR2 c.1452G>A p.Trp484* Nonsense 11/13 -
2-203407042-G-GGGATT BMPR2 c.1285_1286insGGATT p.Val429Glyfs*47 Frameshift 10/13 -
2-203421125-C-T BMPR2 c.2737C>T p.Gln913* Nonsense 12/13 -
12-52307768-A-C ACVRL1 c.536A>C p.Asp179Ala Missense 5/10 -
12-52307020-C-T ACVRL1 c.199C>T p.Arg67Trp Missense 3/10 -
2-203420177-C-T BMPR2 c.1789C>T p.Arg597* Nonsense 12/13 -
2-203419986-A-G BMPR2 c.1598A>G p.His533Arg Missense 12/13 -
2-203395560-GAAATG-G BMPR2 c.1011_1015delAAATG p.Arg337Serfs*6 Frameshift 8/13 -
9-130588023-C-T ENG c.640G>A p.Gly214Ser Missense 5/14 -
10-74916162-G-C ECD c.461C>G p.Ser154Cys Missense 5/14 -
2-203383560-C-T BMPR2 c.637C>T p.Arg213* Nonsense 6/13 -
2-203420138-C-T BMPR2 c.1750C>T p.Arg584* Nonsense 12/13 -
4-96069998-C-G BMPR1B c.1176C>G p.Phe392Leu Missense 11/13 -
4-96069998-C-A BMPR1B c.1176C>A p.Phe392Leu Missense 11/13 -
9-130581016-CC-C ENG c.1410delG p.Gln471Serfs*20 Frameshift 11/14 -
12-52309267-G-A ACVRL1 c.1031G>A p.Cys344Tyr Missense 7/10 -
2-203417476-G-A BMPR2 c.1451G>A p.Trp484* Nonsense 11/13 -
15-40308709-C-T EIF2AK4 c.3766C>T p.Arg1256* Nonsense 28/39 -
2-203420921-G-T BMPR2 c.2533G>T p.Glu845* Nonsense 12/13 -
12-52314600-C-T ACVRL1 c.1435C>T p.Arg479* Nonsense 10/10 -
2-203417511-T-C BMPR2 c.1486T>C p.Cys496Arg Missense 11/13 -
12-52309191-G-C ACVRL1 c.955G>C p.Gly319Arg Missense 7/10 -
2-203378505-T-A BMPR2 c.482T>A p.Leu161* Nonsense 4/13 -
2-203332343-T-C BMPR2 c.349T>C p.Cys117Arg Missense 3/13 -
2-203384808-A-G BMPR2 c.853-2A>G - IntronicSNV - 6/12
2-203241529-G-A BMPR2 c.1-669G>A - 5-UTRSNV 1/13 -
2-203329634-G-A BMPR2 c.179G>A p.Cys60Tyr Missense 2/13 -
2-203332245-G-T BMPR2 c.251G>T p.Cys84Phe Missense 3/13 -
4-96069996-T-C BMPR1B c.1174T>C p.Phe392Leu Missense 11/13 -
2-203329701-A-AA BMPR2 c.246_246dupA - SpliceDonorInsertion 2/13 -
2-203332362-G-C BMPR2 c.368G>C p.Cys123Ser Missense 3/13 -
12-52309090-T-C ACVRL1 c.854T>C p.Leu285Pro Missense 7/10 -
2-26950859-G-A KCNK3 c.608G>A p.Gly203Asp Missense 2/2 -
15-40309444-G-C EIF2AK4 c.4065+1G>C - IntronicSNV - 29/38
15-40235680-GTG-G EIF2AK4 c.354_355delTG p.Cys118Trpfs*7 Frameshift 3/39 -
12-5153946-G-C KCNA5 c.633G>C p.Glu211Asp Missense 1/1 -
2-203332361-T-C BMPR2 c.367T>C p.Cys123Arg Missense 3/13 -
2-203420696-CC-C BMPR2 c.2308delC p.Arg770Glyfs*2 Frameshift 12/13 -
12-52309966-T-C ACVRL1 c.1195T>C p.Trp399Arg Missense 8/10 -
2-203332347-G-A BMPR2 c.353G>A p.Cys118Tyr Missense 3/13 -
12-52314625-A-C ACVRL1 c.1460A>C p.Lys487Thr Missense 10/10 -
2-203329703-G-A BMPR2 c.247+1G>A - IntronicSNV - 2/12
12-52310002-C-T ACVRL1 c.1231C>T p.Arg411Trp Missense 8/10 -
2-203332348-T-G BMPR2 c.354T>G p.Cys118Trp Missense 3/13 -
2-203378462-C-T BMPR2 c.439C>T p.Arg147* Nonsense 4/13 -
2-203421118-T-A BMPR2 c.2730T>A p.Cys910* Nonsense 12/13 -
2-203242275-T-C BMPR2 c.76+2T>C - IntronicSNV - 1/12
2-203329531-G-A BMPR2 c.77-1G>A - IntronicSNV - 1/12
12-52307834-A-G ACVRL1 c.602A>G p.Gln201Arg Missense 5/10 -
12-52310003-G-A ACVRL1 c.1232G>A p.Arg411Gln Missense 8/10 -
2-203395615-A-C BMPR2 c.1066A>C p.Met356Leu Missense 8/13 -
12-52314598-C-A ACVRL1 c.1433C>A p.Ala478Asp Missense 10/10 -
2-203378458-TT-T BMPR2 c.435delT p.Phe145Leufs*7 Frameshift 4/13 -
2-203332361-T-A BMPR2 c.367T>A p.Cys123Ser Missense 3/13 -
2-203379622-C-T BMPR2 c.541C>T p.Gln181* Nonsense 5/13 -
13-37439686-G-A SMAD9 c.880C>T p.His294Tyr Missense 4/6 -
2-26950912-G-C KCNK3 c.661G>C p.Val221Leu Missense 2/2 -
2-203384809-G-A BMPR2 c.853-1G>A - IntronicSNV - 6/12
13-37446859-G-T SMAD9 c.606C>A p.Cys202* Nonsense 3/6 -
2-203421006-G-A BMPR2 c.2618G>A p.Arg873Gln Missense 12/13 -
12-52312792-C-A ACVRL1 c.1270C>A p.Pro424Thr Missense 9/10 -
4-146435773-T-C SMAD1 c.8T>C p.Val3Ala Missense 2/7 -
13-37453700-T-C SMAD9 c.127A>G p.Lys43Glu Missense 2/6 -
12-52314615-C-G ACVRL1 c.1450C>G p.Arg484Gly Missense 10/10 -
12-52314615-C-T ACVRL1 c.1450C>T p.Arg484Trp Missense 10/10 -
12-5153857-G-A KCNA5 c.544G>A p.Gly182Arg Missense 1/1 -
2-203242213-C-T BMPR2 c.16C>T p.Gln6* Nonsense 1/13 -
2-203397455-G-C BMPR2 c.1276G>C p.Gly426Arg Missense 9/13 -
2-203397455-G-A BMPR2 c.1276G>A p.Gly426Arg Missense 9/13 -
12-52309913-T-C ACVRL1 c.1142T>C p.Leu381Pro Missense 8/10 -
12-52314616-G-A ACVRL1 c.1451G>A p.Arg484Gln Missense 10/10 -
15-40265886-G-A EIF2AK4 c.1754G>A p.Arg585Gln Missense 11/39 -
9-130580452-C-T ENG c.1633G>A p.Gly545Ser Missense 12/14 -
2-203420691-GAGCCCCG-G BMPR2 c.2303_2309delAGCCCCG p.Glu768Glyfs*2 Frameshift 12/13 -
2-203420872-GG-G BMPR2 c.2484delG p.Thr829Glnfs*10 Frameshift 12/13 -
2-26950795-G-A KCNK3 c.544G>A p.Glu182Lys Missense 2/2 -
15-40235680-T-G EIF2AK4 c.354T>G p.Cys118Trp Missense 3/39 -
2-203383650-G-T BMPR2 c.727G>T p.Glu243* Nonsense 6/13 -
12-103237506-C-G PAH c.1117G>C p.Ala373Pro Missense 11/13 -
15-40259680-G-GG EIF2AK4 c.1153_1153dupG p.Val385Glyfs*30 Frameshift 9/39 -
2-203420154-A-G BMPR2 c.1766A>G p.Tyr589Cys Missense 12/13 -
15-40300268-C-T EIF2AK4 c.3448C>T p.Arg1150* Nonsense 25/39 -
2-203332347-TG-T BMPR2 c.353delG p.Cys118Leufs*34 Frameshift 3/13 -
2-203242235-G-A BMPR2 c.38G>A p.Trp13* Nonsense 1/13 -
12-52309172-C-G ACVRL1 c.936C>G p.His312Gln Missense 7/10 -
2-203420679-A-AA BMPR2 c.2291_2291dupA p.Asn764Lysfs*49 Frameshift 12/13 -
10-74912145-A-C ECD c.818T>G p.Val273Gly Missense 7/14 -
2-203383565-T-G BMPR2 c.642T>G p.Tyr214* Nonsense 6/13 -
2-203397400-T-A BMPR2 c.1221T>A p.Tyr407* Nonsense 9/13 -
2-203397400-T-G BMPR2 c.1221T>G p.Tyr407* Nonsense 9/13 -
2-203407050-AGTACCAGA-A BMPR2 c.1293_1300delGTACCAGA p.Glu431Aspfs*14 Frameshift 10/13 -
2-203332339-TCT-T BMPR2 c.345_346delCT p.Phe115Leufs*4 Frameshift 3/13 -
7-116199278-CA-C CAV1 c.474delA p.Leu159Serfs*22 Frameshift 3/3 -
2-203417496-C-T BMPR2 c.1471C>T p.Arg491Trp Missense 11/13 -
15-40299265-C-T EIF2AK4 c.3406C>T p.Arg1136* Nonsense 24/39 -
2-203395609-AC-A BMPR2 c.1060delC p.Leu354Cysfs*3 Frameshift 8/13 -
15-40259914-C-T EIF2AK4 c.1387C>T p.Arg463* Nonsense 9/39 -
9-130578221-C-A ENG c.1853G>T p.Arg618Leu Missense 14/14 -
12-52312846-G-A ACVRL1 c.1324G>A p.Val442Met Missense 9/10 -
9-130578220-CACG-C ENG c.1852_1854delCGT p.Arg618delArg InFrameDeletion 14/14 -
12-52307825-T-A ACVRL1 c.593T>A p.Val198Glu Missense 5/10 -
2-203407128-AA-A BMPR2 c.1371delA p.Lys457Asnfs*17 Frameshift 10/13 -
12-52314633-C-T ACVRL1 c.1468C>T p.Gln490* Nonsense 10/10 -
2-203397399-A-C BMPR2 c.1220A>C p.Tyr407Ser Missense 9/13 -
2-203397320-A-AA BMPR2 c.1141_1141dupA p.Arg381Lysfs*18 Frameshift 9/13 -
15-40265105-C-A EIF2AK4 c.1554-4C>A - IntronicSNV - 9/38
2-203417451-ACTCAAGGAGACAATCGAAGACTGTT-A BMPR2 c.1426_1450del25 p.Leu476Glyfs*22 Frameshift 11/13 -
18-48573454-A-G SMAD4 c.38A>G p.Asn13Ser Missense 2/12 -
2-203383718-GA-TT BMPR2 c.795_796delinsTT p.Glu265_arg266delinsAsp* MultiAAMissense 6/13 -