PMID: 32004414

CYP2C9 and CYP2C19: Deep Mutational Scanning and Functional Characterization of Genomic Missense Variants.

Clinical and translational science
L Zhang, V Sarangi, I Moon, J Yu, D Liu, S Devarajan, JM Reid, KR Kalari, L Wang, R Weinshilboum
2020-01-31

170 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-96534922-G-C CYP2C19 c.276G>C p.Glu92Asp Missense 2/9 -
10-96748751-C-T CYP2C9 c.1439C>T p.Pro480Leu Missense 9/9 -
10-96748682-A-G CYP2C9 c.1370A>G p.Asn457Ser Missense 9/9 -
10-96535188-C-T CYP2C19 c.373C>T p.Arg125Cys Missense 3/9 -
10-96702003-T-C CYP2C9 c.386T>C p.Met129Thr Missense 3/9 -
10-96535188-C-G CYP2C19 c.373C>G p.Arg125Gly Missense 3/9 -
10-96702062-G-A CYP2C9 c.445G>A p.Ala149Thr Missense 3/9 -
10-96709013-T-C CYP2C9 c.791T>C p.Ile264Thr Missense 5/9 -
10-96740964-G-A CYP2C9 c.986G>A p.Arg329His Missense 7/9 -
10-96701988-G-T CYP2C9 c.371G>T p.Arg124Leu Missense 3/9 -
10-96708929-AA-A CYP2C9 c.707delA p.Asn236Thrfs*5 Frameshift 5/9 -
10-96540292-C-A CYP2C19 c.518C>A p.Ala173Asp Missense 4/9 -
10-96540292-C-T CYP2C19 c.518C>T p.Ala173Val Missense 4/9 -
10-96602635-C-T CYP2C19 c.1003C>T p.Arg335Trp Missense 7/9 -
10-96707610-C-T CYP2C9 c.556C>T p.Arg186Cys Missense 4/9 -
10-96707686-C-T CYP2C9 c.632C>T p.Pro211Leu Missense 4/9 -
10-96707569-G-C CYP2C9 c.515G>C p.Cys172Ser Missense 4/9 -
10-96708910-C-G CYP2C9 c.688C>G p.His230Asp Missense 5/9 -
10-96580358-G-A CYP2C19 c.925G>A p.Ala309Thr Missense 6/9 -
10-96745827-A-G CYP2C9 c.1187A>G p.His396Arg Missense 8/9 -
10-96612493-A-T CYP2C19 c.1295A>T p.Lys432Ile Missense 9/9 -
10-96701709-T-C CYP2C9 c.263T>C p.Ile88Thr Missense 2/9 -
10-96701988-G-A CYP2C9 c.371G>A p.Arg124Gln Missense 3/9 -
10-96534863-C-T CYP2C19 c.217C>T p.Arg73Cys Missense 2/9 -
10-96741058-C-G CYP2C9 c.1080C>G p.Asp360Glu Missense 7/9 -
10-96535210-G-A CYP2C19 c.395G>A p.Arg132Gln Missense 3/9 -
10-96580338-C-G CYP2C19 c.905C>G p.Thr302Arg Missense 6/9 -
10-96612523-G-T CYP2C19 c.1325G>T p.Arg442Leu Missense 9/9 -
10-96741058-C-A CYP2C9 c.1080C>A p.Asp360Glu Missense 7/9 -
10-96612571-T-G CYP2C19 c.1373T>G p.Leu458Arg Missense 9/9 -
10-96602645-G-T CYP2C19 c.1013G>T p.Cys338Phe Missense 7/9 -
10-96701664-C-T CYP2C9 c.218C>T p.Pro73Leu Missense 2/9 -
10-96707571-G-A CYP2C9 c.517G>A p.Ala173Thr Missense 4/9 -
10-96522547-C-T CYP2C19 c.85C>T p.Leu29Phe Missense 1/9 -
10-96541716-C-T CYP2C19 c.781C>T p.Arg261Trp Missense 5/9 -
10-96540301-A-G CYP2C19 c.527A>G p.Asn176Ser Missense 4/9 -
10-96698477-G-A CYP2C9 c.38G>A p.Cys13Tyr Missense 1/9 -
10-96602710-G-A CYP2C19 c.1078G>A p.Asp360Asn Missense 7/9 -
10-96612637-C-T CYP2C19 c.1439C>T p.Pro480Leu Missense 9/9 -
10-96740958-T-C CYP2C9 c.980T>C p.Ile327Thr Missense 7/9 -
10-96740982-G-A CYP2C9 c.1004G>A p.Arg335Gln Missense 7/9 -
10-96535189-G-A CYP2C19 c.374G>A p.Arg125His Missense 3/9 -
10-96602623-G-A CYP2C19 c.991G>A p.Val331Ile Missense 7/9 -
10-96701717-G-C CYP2C9 c.271G>C p.Gly91Arg Missense 2/9 -
10-96745854-A-T CYP2C9 c.1214A>T p.Glu405Val Missense 8/9 -
10-96748636-G-A CYP2C9 c.1324G>A p.Gly442Ser Missense 9/9 -
10-96702006-C-T CYP2C9 c.389C>T p.Thr130Met Missense 3/9 -
10-96602710-G-C CYP2C19 c.1078G>C p.Asp360His Missense 7/9 -
10-96602710-G-T CYP2C19 c.1078G>T p.Asp360Tyr Missense 7/9 -
10-96740967-T-C CYP2C9 c.989T>C p.Val330Ala Missense 7/9 -
10-96698576-G-A CYP2C9 c.137G>A p.Gly46Asp Missense 1/9 -
10-96541736-C-A CYP2C19 c.801C>A p.Phe267Leu Missense 5/9 -
10-96602653-G-C CYP2C19 c.1021G>C p.Asp341His Missense 7/9 -
10-96745793-A-T CYP2C9 c.1153A>T p.Thr385Ser Missense 8/9 -
10-96745799-A-G CYP2C9 c.1159A>G p.Ile387Val Missense 8/9 -
10-96741062-C-G CYP2C9 c.1084C>G p.Leu362Val Missense 7/9 -
10-96748609-C-T CYP2C9 c.1297C>T p.Arg433Trp Missense 9/9 -
10-96540336-G-A CYP2C19 c.562G>A p.Asp188Asn Missense 4/9 -
10-96540367-T-G CYP2C19 c.593T>G p.Met198Arg Missense 4/9 -
10-96540367-T-C CYP2C19 c.593T>C p.Met198Thr Missense 4/9 -
10-96707678-G-C CYP2C9 c.624G>C p.Leu208Phe Missense 4/9 -
10-96602669-C-T CYP2C19 c.1037C>T p.Pro346Leu Missense 7/9 -
10-96609695-C-G CYP2C19 c.1171C>G p.Leu391Val Missense 8/9 -
10-96707692-T-C CYP2C9 c.638T>C p.Ile213Thr Missense 4/9 -
10-96609740-A-G CYP2C19 c.1216A>G p.Met406Val Missense 8/9 -
10-96541583-C-G CYP2C19 c.648C>G p.Cys216Trp Missense 5/9 -
10-96709023-C-T CYP2C9 c.801C>T p.Phe267Phe Synonymous 5/9 -
10-96534922-G-A CYP2C19 c.276G>A p.Glu92Glu Synonymous 2/9 -
10-96731936-A-G CYP2C9 c.895A>G p.Thr299Ala Missense 6/9 -
10-96535185-C-T CYP2C19 c.370C>T p.Arg124Trp Missense 3/9 -
10-96580283-A-G CYP2C19 c.850A>G p.Ile284Val Missense 6/9 -
10-96534887-G-A CYP2C19 c.241G>A p.Glu81Lys Missense 2/9 -
10-96707672-G-T CYP2C9 c.618G>T p.Lys206Asn Missense 4/9 -
10-96534863-C-A CYP2C19 c.217C>A p.Arg73Ser Missense 2/9 -
10-96534977-G-A CYP2C19 c.331G>A p.Gly111Arg Missense 2/9 -
10-96535296-G-C CYP2C19 c.481G>C p.Ala161Pro Missense 3/9 -
10-96707593-C-T CYP2C9 c.539C>T p.Ser180Phe Missense 4/9 -
10-96541688-C-G CYP2C19 c.753C>G p.His251Gln Missense 5/9 -
10-96535209-C-T CYP2C19 c.394C>T p.Arg132Trp Missense 3/9 -
10-96702011-C-T CYP2C9 c.394C>T p.Arg132Trp Missense 3/9 -
10-96740981-C-T CYP2C9 c.1003C>T p.Arg335Trp Missense 7/9 -
10-96602666-T-A CYP2C19 c.1034T>A p.Met345Lys Missense 7/9 -
10-96535152-G-A CYP2C19 c.337G>A p.Val113Ile Missense 3/9 -
10-96698453-T-C CYP2C9 c.14T>C p.Val5Ala Missense 1/9 -
10-96612514-G-T CYP2C19 c.1316G>T p.Gly439Val Missense 9/9 -
10-96698528-C-T CYP2C9 c.89C>T p.Pro30Leu Missense 1/9 -
10-96540330-C-T CYP2C19 c.556C>T p.Arg186Cys Missense 4/9 -
10-96702066-G-C CYP2C9 c.449G>C p.Arg150Pro Missense 3/9 -
10-96702066-G-A CYP2C9 c.449G>A p.Arg150His Missense 3/9 -
10-96602708-T-A CYP2C19 c.1076T>A p.Ile359Asn Missense 7/9 -
10-96522517-A-C CYP2C19 c.55A>C p.Ile19Leu Missense 1/9 -
10-96534917-G-C CYP2C19 c.271G>C p.Gly91Arg Missense 2/9 -
10-96580269-A-C CYP2C19 c.836A>C p.Gln279Pro Missense 6/9 -
10-96602680-G-A CYP2C19 c.1048G>A p.Ala350Thr Missense 7/9 -
10-96748674-G-C CYP2C9 c.1362G>C p.Gln454His Missense 9/9 -
10-96541615-C-T CYP2C19 c.680C>T p.Pro227Leu Missense 5/9 -
10-96702066-G-T CYP2C9 c.449G>T p.Arg150Leu Missense 3/9 -
10-96698603-C-T CYP2C9 c.164C>T p.Thr55Ile Missense 1/9 -
10-96580269-A-T CYP2C19 c.836A>T p.Gln279Leu Missense 6/9 -
10-96702012-G-A CYP2C9 c.395G>A p.Arg132Gln Missense 3/9 -
10-96707654-G-T CYP2C9 c.600G>T p.Lys200Asn Missense 4/9 -
10-96580394-G-T CYP2C19 c.961G>T p.Ala321Ser Missense 6/9 -
10-96535263-C-T CYP2C19 c.448C>T p.Arg150Cys Missense 3/9 -
10-96745799-A-C CYP2C9 c.1159A>C p.Ile387Leu Missense 8/9 -
10-96701703-C-A CYP2C9 c.257C>A p.Ala86Asp Missense 2/9 -
10-96540403-C-A CYP2C19 c.629C>A p.Thr210Asn Missense 4/9 -
10-96602617-C-A CYP2C19 c.985C>A p.Arg329Ser Missense 7/9 -
10-96612523-G-A CYP2C19 c.1325G>A p.Arg442His Missense 9/9 -
10-96535255-A-G CYP2C19 c.440A>G p.Glu147Gly Missense 3/9 -
10-96748653-A-C CYP2C9 c.1341A>C p.Leu447Phe Missense 9/9 -
10-96741054-T-C CYP2C9 c.1076T>C p.Ile359Thr Missense 7/9 -
10-96602617-C-T CYP2C19 c.985C>T p.Arg329Cys Missense 7/9 -
10-96602639-G-T CYP2C19 c.1007G>T p.Ser336Ile Missense 7/9 -
10-96602752-G-A CYP2C19 c.1120G>A p.Val374Ile Missense 7/9 -
10-96522626-C-G CYP2C19 c.164C>G p.Thr55Ser Missense 1/9 -
10-96708974-A-G CYP2C9 c.752A>G p.His251Arg Missense 5/9 -
10-96522527-A-G CYP2C19 c.65A>G p.Gln22Arg Missense 1/9 -
10-96522626-C-A CYP2C19 c.164C>A p.Thr55Asn Missense 1/9 -
10-96535173-T-C CYP2C19 c.358T>C p.Trp120Arg Missense 3/9 -
10-96702039-T-C CYP2C9 c.422T>C p.Ile141Thr Missense 3/9 -
10-96741114-A-G CYP2C9 c.1136A>G p.Tyr379Cys Missense 7/9 -
10-96602653-G-A CYP2C19 c.1021G>A p.Asp341Asn Missense 7/9 -
10-96602744-C-G CYP2C19 c.1112C>G p.Thr371Ser Missense 7/9 -
10-96702006-C-A CYP2C9 c.389C>A p.Thr130Lys Missense 3/9 -
17-19317956-G-A RNF112 c.991G>A p.Val331Ile Missense 9/14 -
10-96522487-C-G CYP2C19 c.25C>G p.Leu9Val Missense 1/9 -
10-96541656-G-A CYP2C19 c.721G>A p.Glu241Lys Missense 5/9 -
10-96745904-A-G CYP2C9 c.1264A>G p.Ser422Gly Missense 8/9 -
10-96602634-C-A CYP2C19 c.1002C>A p.Asn334Lys Missense 7/9 -
10-96741073-C-A CYP2C9 c.1095C>A p.Ser365Arg Missense 7/9 -
10-96702075-T-G CYP2C9 c.458T>G p.Val153Gly Missense 3/9 -
10-96701715-T-C CYP2C9 c.269T>C p.Leu90Pro Missense 2/9 -
10-96701736-G-C CYP2C9 c.290G>C p.Arg97Thr Missense 2/9 -
10-96702075-T-C CYP2C9 c.458T>C p.Val153Ala Missense 3/9 -
10-96602759-T-A CYP2C19 c.1127T>A p.Phe376Tyr Missense 7/9 -
10-96741000-A-G CYP2C9 c.1022A>G p.Asp341Gly Missense 7/9 -
10-96612663-C-T CYP2C19 c.1465C>T p.Pro489Ser Missense 9/9 -
10-96540331-G-T CYP2C19 c.557G>T p.Arg186Leu Missense 4/9 -
10-96535264-G-A CYP2C19 c.449G>A p.Arg150His Missense 3/9 -
10-96609752-C-T CYP2C19 c.1228C>T p.Arg410Cys Missense 8/9 -
10-96731876-C-A CYP2C9 c.835C>A p.Pro279Thr Missense 6/9 -
10-96701675-C-T CYP2C9 c.229C>T p.Leu77Leu Synonymous 2/9 -
10-96702003-T-A CYP2C9 c.386T>A p.Met129Lys Missense 3/9 -
10-96534836-G-A CYP2C19 c.190G>A p.Val64Met Missense 2/9 -
10-96609737-G-C CYP2C19 c.1213G>C p.Glu405Gln Missense 8/9 -
10-96540331-G-C CYP2C19 c.557G>C p.Arg186Pro Missense 4/9 -
10-96708926-A-G CYP2C9 c.704A>G p.Lys235Arg Missense 5/9 -
10-96535246-G-C CYP2C19 c.431G>C p.Arg144Pro Missense 3/9 -
10-96535246-G-A CYP2C19 c.431G>A p.Arg144His Missense 3/9 -
10-96535186-G-A CYP2C19 c.371G>A p.Arg124Gln Missense 3/9 -
10-96701960-A-C CYP2C9 c.343A>C p.Ser115Arg Missense 3/9 -
10-96748777-C-T CYP2C9 c.1465C>T p.Pro489Ser Missense 9/9 -
10-96701991-G-T CYP2C9 c.374G>T p.Arg125Leu Missense 3/9 -
10-96701991-G-A CYP2C9 c.374G>A p.Arg125His Missense 3/9 -
10-96701991-G-C CYP2C9 c.374G>C p.Arg125Pro Missense 3/9 -
10-96612547-C-A CYP2C19 c.1349C>A p.Thr450Asn Missense 9/9 -
10-96580361-C-T CYP2C19 c.928C>T p.Leu310Phe Missense 6/9 -
10-96702065-C-T CYP2C9 c.448C>T p.Arg150Cys Missense 3/9 -
10-96540331-G-A CYP2C19 c.557G>A p.Arg186His Missense 4/9 -
10-96535225-G-A CYP2C19 c.410G>A p.Gly137Glu Missense 3/9 -
10-96741066-C-T CYP2C9 c.1088C>T p.Pro363Leu Missense 7/9 -
10-96602636-G-A CYP2C19 c.1004G>A p.Arg335Gln Missense 7/9 -
10-96707574-C-G CYP2C9 c.520C>G p.Pro174Ala Missense 4/9 -
10-96612522-C-G CYP2C19 c.1324C>G p.Arg442Gly Missense 9/9 -
10-96602668-C-T CYP2C19 c.1036C>T p.Pro346Ser Missense 7/9 -
10-96612522-C-T CYP2C19 c.1324C>T p.Arg442Cys Missense 9/9 -
10-96748733-A-G CYP2C9 c.1421A>G p.Asn474Ser Missense 9/9 -
10-96535180-A-C CYP2C19 c.365A>C p.Glu122Ala Missense 3/9 -
10-96535204-C-T CYP2C19 c.389C>T p.Thr130Met Missense 3/9 -
10-96702048-G-A CYP2C9 c.431G>A p.Arg144His Missense 3/9 -