PMID: 26503515

Molecular characterisation of phenylketonuria in a Chinese mainland population using next-generation sequencing.

Scientific reports
N Li, H Jia, Z Liu, J Tao, S Chen, X Li, Y Deng, X Jin, J Song, L Zhang, Y Liang, W Wang, J Zhu
2015-10-27

193 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-103246714-G-A PAH c.721C>T p.Arg241Cys Missense 7/13 -
12-103260413-C-T PAH c.470G>A p.Arg157Lys Missense 5/13 -
19-48517541-C-CCTGA ELSPBP1 c.184_185insCTGA p.Gln62Profs*9 Frameshift 3/7 -
12-103246623-T-C PAH c.812A>G p.His271Arg Missense 7/13 -
12-103306579-C-T PAH c.158G>A p.Arg53His Missense 2/13 -
12-103246596-T-C PAH c.839A>G p.Glu280Gly Missense 7/13 -
12-103246719-C-G PAH c.716G>C p.Gly239Ala Missense 7/13 -
12-103234277-T-C PAH c.1216A>G p.Ile406Val Missense 12/13 -
12-103306569-C-A PAH c.168G>T p.Glu56Asp Missense 2/13 -
12-103240677-G-T PAH c.965C>A p.Ala322Asp Missense 9/13 -
19-48511983-A-C ELSPBP1 c.59A>C p.Glu20Ala Missense 2/7 -
12-103288660-G-A PAH c.205C>T p.Pro69Ser Missense 3/13 -
12-103249057-C-T PAH c.563G>A p.Gly188Asp Missense 6/13 -
12-103288641-T-A PAH c.224A>T p.Asp75Val Missense 3/13 -
12-103288641-T-C PAH c.224A>G p.Asp75Gly Missense 3/13 -
19-48523000-A-G ELSPBP1 c.380A>G p.Lys127Arg Missense 5/7 -
12-103237558-C-T PAH c.1066-1G>A - IntronicSNV - 10/12
12-103237558-C-G PAH c.1066-1G>C - IntronicSNV - 10/12
12-103237558-C-A PAH c.1066-1G>T - IntronicSNV - 10/12
12-103238134-A-C PAH c.1045T>G p.Ser349Ala Missense 10/13 -
12-103237553-C-T PAH c.1070G>A p.Cys357Tyr Missense 11/13 -
12-103306610-C-A PAH c.127G>T p.Glu43* Nonsense 2/13 -
12-103238204-G-C PAH c.975C>G p.Tyr325* Nonsense 10/13 -
12-103240678-C-T PAH c.964G>A p.Ala322Thr Missense 9/13 -
12-103249009-T-C PAH c.611A>G p.Tyr204Cys Missense 6/13 -
12-103260401-A-G PAH c.482T>C p.Phe161Ser Missense 5/13 -
12-103237524-G-C PAH c.1099C>G p.Leu367Val Missense 11/13 -
12-103260374-T-C PAH c.509A>G p.His170Arg Missense 5/13 -
12-103260374-T-G PAH c.509A>C p.His170Pro Missense 5/13 -
12-103237547-G-A PAH c.1076C>T p.Ser359Leu Missense 11/13 -
12-103237557-A-C PAH c.1066T>G p.Tyr356Asp Missense 11/13 -
12-103234204-A-G PAH c.1289T>C p.Leu430Pro Missense 12/13 -
12-103238202-C-T PAH c.977G>A p.Trp326* Nonsense 10/13 -
12-103234250-C-T PAH c.1243G>A p.Asp415Asn Missense 12/13 -
12-103246597-C-T PAH c.838G>A p.Glu280Lys Missense 7/13 -
12-103246626-C-T PAH c.809G>A p.Arg270Lys Missense 7/13 -
12-103234250-C-A PAH c.1243G>T p.Asp415Tyr Missense 12/13 -
12-103260417-C-G PAH c.466G>C p.Ala156Pro Missense 5/13 -
12-103249094-G-A PAH c.526C>T p.Arg176* Nonsense 6/13 -
12-103260405-G-A PAH c.478C>T p.Gln160* Nonsense 5/13 -
12-103260440-C-A PAH c.443G>T p.Gly148Val Missense 5/13 -
12-103232998-T-G PAH c.1316-2A>C - IntronicSNV - 12/12
12-103245524-G-A PAH c.853C>T p.His285Tyr Missense 8/13 -
12-103237568-C-T PAH c.1066-11G>A - IntronicSNV - 10/12
12-103237426-T-A PAH c.1197A>T p.Val399Val Synonymous 11/13 -
12-103240731-T-C PAH c.913-2A>G - IntronicSNV - 8/12
12-103306582-A-G PAH c.155T>C p.Leu52Ser Missense 2/13 -
12-103245467-G-T PAH c.910C>A p.Gln304Lys Missense 8/13 -
12-103288534-G-A PAH c.331C>T p.Arg111* Nonsense 3/13 -
12-103246713-C-T PAH c.722G>A p.Arg241His Missense 7/13 -
12-103234208-G-T PAH c.1285C>A p.Gln429Lys Missense 12/13 -
12-103238155-C-T PAH c.1024G>A p.Ala342Thr Missense 10/13 -
19-48523129-A-C ELSPBP1 c.509A>C p.Asp170Ala Missense 5/7 -
19-48523129-A-G ELSPBP1 c.509A>G p.Asp170Gly Missense 5/7 -
12-103245506-C-A PAH c.871G>T p.Val291Leu Missense 8/13 -
12-103238146-C-T PAH c.1033G>A p.Ala345Thr Missense 10/13 -
12-103245473-AA-A PAH c.907delT p.Ser303Profs*38 Frameshift 8/13 -
12-103310850-T-G PAH c.59A>C p.Gln20Pro Missense 1/13 -
12-103249108-C-G PAH c.512G>C p.Gly171Ala Missense 6/13 -
12-103245506-C-T PAH c.871G>A p.Val291Met Missense 8/13 -
12-103234231-A-G PAH c.1262T>C p.Ile421Thr Missense 12/13 -
12-103246707-C-T PAH c.728G>A p.Arg243Gln Missense 7/13 -
12-103237424-C-G PAH c.1199G>C p.Arg400Thr Missense 11/13 -
12-103237424-C-T PAH c.1199G>A p.Arg400Lys Missense 11/13 -
12-103288584-GATG-G PAH c.284_286delTCA p.Ile95delIle InFrameDeletion 3/13 -
12-103237464-A-C PAH c.1159T>G p.Tyr387Asp Missense 11/13 -
12-103234271-G-A PAH c.1222C>T p.Arg408Trp Missense 12/13 -
19-48519261-A-G ELSPBP1 c.320A>G p.Asp107Gly Missense 4/7 -
12-103238176-T-C PAH c.1003A>G p.Lys335Glu Missense 10/13 -
12-103271330-T-C PAH c.353-2A>G - IntronicSNV - 3/12
12-103246657-A-T PAH c.778T>A p.Phe260Ile Missense 7/13 -
12-103240713-G-A PAH c.929C>T p.Ser310Phe Missense 9/13 -
12-103271320-A-C PAH c.361T>G p.Phe121Val Missense 4/13 -
12-103240707-C-A PAH c.935G>T p.Gly312Val Missense 9/13 -
12-103260378-G-T PAH c.505C>A p.Arg169Ser Missense 5/13 -
12-103260378-G-A PAH c.505C>T p.Arg169Cys Missense 5/13 -
12-103260378-G-C PAH c.505C>G p.Arg169Gly Missense 5/13 -
12-103248970-C-T PAH c.650G>A p.Cys217Tyr Missense 6/13 -
12-103271241-G-A PAH c.440C>T p.Pro147Leu Missense 4/13 -
12-103249112-T-C PAH c.510-2A>G - IntronicSNV - 5/12
12-103237534-GC-G PAH c.1089delG p.Lys363Asnfs*37 Frameshift 11/13 -
12-103246681-G-A PAH c.754C>T p.Arg252Trp Missense 7/13 -
12-103288657-GAAG-G PAH c.208_210delTCT p.Ser70delSer InFrameDeletion 3/13 -
12-103246671-A-G PAH c.764T>C p.Leu255Ser Missense 7/13 -
12-103240722-C-T PAH c.920G>A p.Gly307Asp Missense 9/13 -
12-103238156-CC-C PAH c.1024delG p.Ala342Hisfs*58 Frameshift 10/13 -
12-103310879-G-GG PAH c.30dupC p.Arg13Glnfs*5 Frameshift 1/13 -
12-103288545-T-C PAH c.320A>G p.His107Arg Missense 3/13 -
12-103246695-C-A PAH c.740G>T p.Gly247Val Missense 7/13 -
12-103238148-C-T PAH c.1031G>A p.Gly344Asp Missense 10/13 -
12-103246708-G-A PAH c.727C>T p.Arg243* Nonsense 7/13 -
12-103271302-C-T PAH c.379G>A p.Glu127Lys Missense 4/13 -
19-48511954-A-AC ELSPBP1 c.30_31insC p.Trp11Leufs*10 Frameshift 2/7 -
12-103249110-A-T PAH c.510T>A p.His170Gln Missense 6/13 -
12-103306622-AAGA-A PAH c.116_118delTCT p.Phe39delPhe InFrameDeletion 2/13 -
12-103246653-C-T PAH c.782G>A p.Arg261Gln Missense 7/13 -
12-103237570-AA-A PAH c.1066-12delT - IntronicDeletion - 10/12
12-103246602-GG-G PAH c.837delC p.Glu280Asnfs*61 Frameshift 7/13 -
12-103260419-C-T PAH c.464G>A p.Arg155His Missense 5/13 -
12-103234237-T-C PAH c.1256A>G p.Gln419Arg Missense 12/13 -
12-103238208-A-T PAH c.971T>A p.Ile324Asn Missense 10/13 -
12-103246711-G-A PAH c.724C>T p.Leu242Phe Missense 7/13 -
12-103245532-T-C PAH c.845A>G p.Asp282Gly Missense 8/13 -
12-103248926-G-A PAH c.694C>T p.Gln232* Nonsense 6/13 -
12-103237509-T-A PAH c.1114A>T p.Thr372Ser Missense 11/13 -
12-103288573-A-C PAH c.292T>G p.Leu98Val Missense 3/13 -
12-103306597-G-T PAH c.140C>A p.Ala47Glu Missense 2/13 -
12-103306594-A-G PAH c.143T>C p.Leu48Ser Missense 2/13 -
12-103234255-C-G PAH c.1238G>C p.Arg413Pro Missense 12/13 -
12-103288564-C-T PAH c.301G>A p.Asp101Asn Missense 3/13 -
12-103260441-C-G PAH c.442G>C p.Gly148Arg Missense 5/13 -
12-103246636-G-A PAH c.799C>T p.Gln267* Nonsense 7/13 -
12-103260442-C-T PAH c.442-1G>A - IntronicSNV - 4/12
12-103246665-C-A PAH c.770G>T p.Gly257Val Missense 7/13 -
12-103288632-T-A PAH c.233A>T p.Glu78Val Missense 3/13 -
12-103248932-C-T PAH c.688G>A p.Val230Ile Missense 6/13 -
12-103237508-G-C PAH c.1115C>G p.Thr372Arg Missense 11/13 -
12-103237461-C-T PAH c.1162G>A p.Val388Met Missense 11/13 -
12-103246672-A-C PAH c.763T>G p.Leu255Val Missense 7/13 -
12-103240702-G-T PAH c.940C>A p.Pro314Thr Missense 9/13 -
12-103240720-G-A PAH c.922C>T p.Leu308Phe Missense 9/13 -
19-48523063-G-T ELSPBP1 c.443G>T p.Ser148Ile Missense 5/7 -
12-103246719-C-T PAH c.716G>A p.Gly239Asp Missense 7/13 -
12-103249104-C-A PAH c.516G>T p.Gln172His Missense 6/13 -
12-103237538-G-A PAH c.1085C>T p.Pro362Leu Missense 11/13 -
12-103240736-T-C PAH c.913-7A>G - IntronicSNV - 8/12
12-103237454-T-C PAH c.1169A>G p.Glu390Gly Missense 11/13 -
12-103246593-G-A PAH c.842C>T p.Pro281Leu Missense 7/13 -
12-103310849-C-G PAH c.60G>C p.Gln20His Missense 1/13 -
12-103288672-T-C PAH c.193A>G p.Ile65Val Missense 3/13 -
12-103249097-G-A PAH c.523C>T p.Pro175Ser Missense 6/13 -
12-103248952-T-A PAH c.668A>T p.Asn223Ile Missense 6/13 -
12-103249002-G-T PAH c.618C>A p.Tyr206* Nonsense 6/13 -
12-103234270-C-T PAH c.1223G>A p.Arg408Gln Missense 12/13 -
12-103310865-GAG-G PAH c.47_48delCT p.Ser16*fs*1 Frameshift 1/13 -
12-103238150-A-T PAH c.1029T>A p.Tyr343* Nonsense 10/13 -
12-103249003-T-C PAH c.617A>G p.Tyr206Cys Missense 6/13 -
12-103246680-C-T PAH c.755G>A p.Arg252Gln Missense 7/13 -
12-103246660-C-T PAH c.775G>A p.Ala259Thr Missense 7/13 -
12-103234285-G-A PAH c.1208C>T p.Ala403Val Missense 12/13 -
12-103248940-A-T PAH c.680T>A p.Leu227Gln Missense 6/13 -
12-103245503-G-A PAH c.874C>T p.Pro292Ser Missense 8/13 -
12-103246635-T-A PAH c.800A>T p.Gln267Leu Missense 7/13 -
19-48511984-G-C ELSPBP1 c.60G>C p.Glu20Asp Missense 2/7 -
12-103248929-A-G PAH c.691T>C p.Ser231Pro Missense 6/13 -
19-48517515-G-A ELSPBP1 c.158G>A p.Cys53Tyr Missense 3/7 -
12-103306616-G-A PAH c.121C>T p.Leu41Phe Missense 2/13 -
12-103246608-A-T PAH c.827T>A p.Met276Lys Missense 7/13 -
12-103237449-A-T PAH c.1174T>A p.Phe392Ile Missense 11/13 -
12-103246608-A-C PAH c.827T>G p.Met276Arg Missense 7/13 -
12-103306679-A-G PAH c.61-3T>C - IntronicSNV - 1/12
12-103288633-C-G PAH c.232G>C p.Glu78Gln Missense 3/13 -
12-103260423-A-G PAH c.460T>C p.Tyr154His Missense 5/13 -
12-103271330-T-A PAH c.353-2A>T - IntronicSNV - 3/12
12-103246623-T-A PAH c.812A>T p.His271Leu Missense 7/13 -
12-103234241-T-G PAH c.1252A>C p.Thr418Pro Missense 12/13 -
12-103237560-G-A PAH c.1066-3C>T - IntronicSNV - 10/12
12-103288653-C-T PAH c.212G>A p.Arg71His Missense 3/13 -
12-103288671-A-C PAH c.194T>G p.Ile65Ser Missense 3/13 -
12-103288671-A-G PAH c.194T>C p.Ile65Thr Missense 3/13 -
12-103234192-G-T PAH c.1301C>A p.Ala434Asp Missense 12/13 -
12-103246640-G-T PAH c.795C>A p.Cys265* Nonsense 7/13 -
12-103246723-T-C PAH c.712A>G p.Thr238Ala Missense 7/13 -
12-103237500-G-C PAH c.1123C>G p.Gln375Glu Missense 11/13 -
12-103237555-G-T PAH c.1068C>A p.Tyr356* Nonsense 11/13 -
12-103248961-T-G PAH c.659A>C p.His220Pro Missense 6/13 -
12-103288557-C-T PAH c.308G>A p.Gly103Asp Missense 3/13 -
12-103260410-C-T PAH c.473G>A p.Arg158Gln Missense 5/13 -
12-103271301-T-C PAH c.380A>G p.Glu127Gly Missense 4/13 -
12-103246602-G-A PAH c.833C>T p.Thr278Ile Missense 7/13 -
12-103248921-G-C PAH c.699C>G p.Phe233Leu Missense 6/13 -
12-103246654-G-A PAH c.781C>T p.Arg261* Nonsense 7/13 -
12-103238187-A-G PAH c.992T>C p.Phe331Ser Missense 10/13 -
12-103240726-T-C PAH c.916A>G p.Ile306Val Missense 9/13 -
12-103260389-G-T PAH c.494C>A p.Ala165Asp Missense 5/13 -
12-103238149-C-T PAH c.1030G>A p.Gly344Ser Missense 10/13 -
12-103238196-G-T PAH c.983C>A p.Thr328Asn Missense 10/13 -
12-103246696-C-G PAH c.739G>C p.Gly247Arg Missense 7/13 -
12-103246729-C-T PAH c.707-1G>A - IntronicSNV - 6/12
12-103245491-C-G PAH c.886G>C p.Asp296His Missense 8/13 -
12-103234252-T-C PAH c.1241A>G p.Tyr414Cys Missense 12/13 -
12-103234276-TATTGT-T PAH c.1215_1219delAATAC p.Ile406Serfs*15 Frameshift 12/13 -
12-103238130-G-T PAH c.1049C>A p.Ser350Tyr Missense 10/13 -
12-103260385-G-C PAH c.498C>G p.Tyr166* Nonsense 5/13 -
12-103260411-G-A PAH c.472C>T p.Arg158Trp Missense 5/13 -
12-103288695-CTC-C PAH c.171_172delGA - SpliceAcceptorDeletion 3/13 -
12-103234294-C-G PAH c.1200-1G>C - IntronicSNV - 11/12
12-103245502-G-A PAH c.875C>T p.Pro292Leu Missense 8/13 -
12-103249088-C-T PAH c.532G>A p.Glu178Lys Missense 6/13 -
12-103246713-GC-G PAH c.722delG p.Arg241Profs*100 Frameshift 7/13 -
12-103245479-C-A PAH c.898G>T p.Ala300Ser Missense 8/13 -
12-103246603-T-C PAH c.832A>G p.Thr278Ala Missense 7/13 -
12-103310897-CC-C PAH c.13delG p.Val5Serfs*33 Frameshift 1/13 -