PMID: 32023956

Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International journal of molecular sciences
J Lukas, C Cimmaruta, L Liguori, S Pantoom, K Iwanov, J Petters, C Hund, M Bunschkowski, A Hermann, MV Cubellis, A Rolfs
2020-01-31

229 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
X-100653467-G-C GLA c.890C>G p.Ser297Cys Missense 6/7 -
X-100652900-A-T GLA c.1187T>A p.Phe396Tyr Missense 7/7 -
X-100658833-C-T GLA c.335G>A p.Arg112His Missense 2/7 -
X-100653374-C-G GLA c.983G>C p.Gly328Ala Missense 6/7 -
X-100656652-C-T GLA c.515G>A p.Cys172Tyr Missense 3/7 -
X-100656653-A-C GLA c.514T>G p.Cys172Gly Missense 3/7 -
X-100653552-C-T GLA c.805G>A p.Val269Met Missense 6/7 -
15-74369643-T-C GOLGA6A c.376A>G p.Thr126Ala Missense 6/18 -
X-100662768-T-C GLA c.124A>G p.Met42Val Missense 1/7 -
15-74367801-C-A GOLGA6A c.790G>T p.Asp264Tyr Missense 10/18 -
X-100653552-C-G GLA c.805G>C p.Val269Leu Missense 6/7 -
X-100653537-C-T GLA c.820G>A p.Gly274Ser Missense 6/7 -
X-100656674-C-G GLA c.493G>C p.Asp165His Missense 3/7 -
X-100656775-A-G GLA c.392T>C p.Leu131Pro Missense 3/7 -
X-100655721-A-G GLA c.572T>C p.Leu191Pro Missense 4/7 -
X-100662739-C-T GLA c.153G>A p.Met51Ile Missense 1/7 -
X-100653542-T-C GLA c.815A>G p.Asn272Ser Missense 6/7 -
X-100652843-A-G GLA c.1244T>C p.Leu415Pro Missense 7/7 -
15-74369615-G-A GOLGA6A c.404C>T p.Ala135Val Missense 6/18 -
X-100656781-A-G GLA c.386T>C p.Leu129Pro Missense 3/7 -
X-100662740-A-T GLA c.152T>A p.Met51Lys Missense 1/7 -
X-100652999-C-T GLA c.1088G>A p.Arg363His Missense 7/7 -
15-74368112-T-C GOLGA6A c.671A>G p.Gln224Arg Missense 9/18 -
15-74368054-C-G GOLGA6A c.729G>C p.Trp243Cys Missense 9/18 -
X-100653420-C-A GLA c.937G>T p.Asp313Tyr Missense 6/7 -
X-100653891-T-C GLA c.683A>G p.Asn228Ser Missense 5/7 -
X-100662830-A-G GLA c.62T>C p.Leu21Pro Missense 1/7 -
X-100655670-A-T GLA c.623T>A p.Met208Lys Missense 4/7 -
15-74367253-C-A GOLGA6A c.937G>T p.Gly313Cys Missense 11/18 -
X-100662845-A-C GLA c.47T>G p.Leu16Arg Missense 1/7 -
15-74369437-C-G GOLGA6A c.486G>C p.Leu162Leu Synonymous 7/18 -
X-100653456-G-C GLA c.901C>G p.Arg301Gly Missense 6/7 -
X-100652934-T-C GLA c.1153A>G p.Thr385Ala Missense 7/7 -
X-100656674-C-A GLA c.493G>T p.Asp165Tyr Missense 3/7 -
15-74367169-C-T GOLGA6A c.1021G>A p.Glu341Lys Missense 11/18 -
X-100656751-T-C GLA c.416A>G p.Asn139Ser Missense 3/7 -
X-100653486-C-T GLA c.871G>A p.Ala291Thr Missense 6/7 -
X-100653546-C-A GLA c.811G>T p.Gly271Cys Missense 6/7 -
X-100655732-C-T GLA c.561G>A p.Met187Ile Missense 4/7 -
X-100662755-T-G GLA c.137A>C p.His46Pro Missense 1/7 -
X-100656681-C-G GLA c.486G>C p.Trp162Cys Missense 3/7 -
15-74368251-G-A GOLGA6A c.640C>T p.His214Tyr Missense 8/18 -
X-100656743-A-G GLA c.424T>C p.Cys142Arg Missense 3/7 -
X-100653798-G-C GLA c.776C>G p.Pro259Arg Missense 5/7 -
X-100662827-A-G GLA c.65T>C p.Val22Ala Missense 1/7 -
X-100652858-G-A GLA c.1229C>T p.Thr410Ile Missense 7/7 -
15-74370958-C-A GOLGA6A c.277G>T p.Glu93* Nonsense 3/18 -
X-100658887-C-T GLA c.281G>A p.Cys94Tyr Missense 2/7 -
X-100656659-C-G GLA c.508G>C p.Asp170His Missense 3/7 -
X-100653503-G-T GLA c.854C>A p.Ala285Asp Missense 6/7 -
X-100653918-A-G GLA c.656T>C p.Ile219Thr Missense 5/7 -
X-100653473-A-C GLA c.884T>G p.Phe295Cys Missense 6/7 -
15-74367776-T-C GOLGA6A c.815A>G p.Glu272Gly Missense 10/18 -
X-100656673-T-A GLA c.494A>T p.Asp165Val Missense 3/7 -
X-100653512-G-A GLA c.845C>T p.Thr282Ile Missense 6/7 -
15-74367244-C-T GOLGA6A c.946G>A p.Gly316Arg Missense 11/18 -
X-100653056-A-G GLA c.1031T>C p.Leu344Pro Missense 7/7 -
X-100656700-G-A GLA c.467C>T p.Ala156Val Missense 3/7 -
X-100656700-G-T GLA c.467C>A p.Ala156Asp Missense 3/7 -
15-74369761-G-C GOLGA6A c.358C>G p.Gln120Glu Missense 5/18 -
X-100653401-A-G GLA c.956T>C p.Ile319Thr Missense 6/7 -
X-100653900-T-C GLA c.674A>G p.His225Arg Missense 5/7 -
X-100658863-G-A GLA c.305C>T p.Ser102Leu Missense 2/7 -
X-100653429-G-A GLA c.928C>T p.Leu310Phe Missense 6/7 -
X-100653020-C-T GLA c.1067G>A p.Arg356Gln Missense 7/7 -
X-100662758-A-G GLA c.134T>C p.Leu45Pro Missense 1/7 -
X-100655714-C-G GLA c.579G>C p.Arg193Ser Missense 4/7 -
X-100653845-C-G GLA c.729G>C p.Leu243Phe Missense 5/7 -
X-100653927-T-C GLA c.647A>G p.Tyr216Cys Missense 5/7 -
X-100662767-A-G GLA c.125T>C p.Met42Thr Missense 1/7 -
X-100655700-A-G GLA c.593T>C p.Ile198Thr Missense 4/7 -
X-100653883-C-T GLA c.691G>A p.Asp231Asn Missense 5/7 -
X-100662774-G-A GLA c.118C>T p.Pro40Ser Missense 1/7 -
X-100656676-A-C GLA c.491T>G p.Val164Gly Missense 3/7 -
X-100653901-G-C GLA c.673C>G p.His225Asp Missense 5/7 -
X-100653786-T-C GLA c.788A>G p.Asn263Ser Missense 5/7 -
X-100653933-G-A GLA c.641C>T p.Pro214Leu Missense 5/7 -
X-100653894-C-T GLA c.680G>A p.Arg227Gln Missense 5/7 -
X-100653894-C-G GLA c.680G>C p.Arg227Pro Missense 5/7 -
X-100662713-G-A GLA c.179C>T p.Pro60Leu Missense 1/7 -
X-100656772-C-T GLA c.395G>A p.Gly132Glu Missense 3/7 -
15-74367118-C-T GOLGA6A c.1072G>A p.Glu358Lys Missense 11/18 -
15-74368100-T-C GOLGA6A c.683A>G p.Glu228Gly Missense 9/18 -
X-100656759-A-T GLA c.408T>A p.Asp136Glu Missense 3/7 -
X-100662785-A-C GLA c.107T>G p.Leu36Trp Missense 1/7 -
X-100656755-C-T GLA c.412G>A p.Gly138Arg Missense 3/7 -
X-100662818-T-A GLA c.74A>T p.Asp25Val Missense 1/7 -
X-100653399-T-A GLA c.958A>T p.Asn320Tyr Missense 6/7 -
15-74372973-C-T GOLGA6A c.188G>A p.Cys63Tyr Missense 2/18 -
X-100652874-T-G GLA c.1213A>C p.Ser405Arg Missense 7/7 -
X-100653554-A-G GLA c.803T>C p.Leu268Ser Missense 6/7 -
X-100652972-A-G GLA c.1115T>C p.Leu372Pro Missense 7/7 -
X-100653378-G-C GLA c.979C>G p.Gln327Glu Missense 6/7 -
X-100652834-T-C GLA c.1253A>G p.Glu418Gly Missense 7/7 -
X-100658950-G-A GLA c.218C>T p.Ala73Val Missense 2/7 -
X-100653062-C-T GLA c.1025G>A p.Arg342Gln Missense 7/7 -
X-100653062-C-G GLA c.1025G>C p.Arg342Pro Missense 7/7 -
X-100653062-C-A GLA c.1025G>T p.Arg342Leu Missense 7/7 -
X-100662849-C-G GLA c.43G>C p.Ala15Pro Missense 1/7 -
X-100656793-T-G GLA c.374A>C p.His125Pro Missense 3/7 -
X-100653476-A-G GLA c.881T>C p.Leu294Ser Missense 6/7 -
X-100653378-G-T GLA c.979C>A p.Gln327Lys Missense 6/7 -
X-100652903-C-G GLA c.1184G>C p.Gly395Ala Missense 7/7 -
X-100662884-A-G GLA c.8T>C p.Leu3Pro Missense 1/7 -
15-74369580-C-T GOLGA6A c.439G>A p.Ala147Thr Missense 6/18 -
15-74366937-T-C GOLGA6A c.1253A>G p.Lys418Arg Missense 11/18 -
15-74369595-A-G GOLGA6A c.424T>C p.Tyr142His Missense 6/18 -
X-100653910-A-C GLA c.664T>G p.Tyr222Asp Missense 5/7 -
X-100653911-C-G GLA c.663G>C p.Gln221His Missense 5/7 -
X-100658887-C-G GLA c.281G>C p.Cys94Ser Missense 2/7 -
X-100662747-G-A GLA c.145C>T p.Arg49Cys Missense 1/7 -
X-100662747-G-C GLA c.145C>G p.Arg49Gly Missense 1/7 -
15-74367336-G-T GOLGA6A c.854C>A p.Pro285His Missense 11/18 -
15-74368095-C-T GOLGA6A c.688G>A p.Asp230Asn Missense 9/18 -
X-100658884-C-A GLA c.284G>T p.Trp95Leu Missense 2/7 -
X-100656791-T-C GLA c.376A>G p.Ser126Gly Missense 3/7 -
15-74372982-G-A GOLGA6A c.179C>T p.Ser60Phe Missense 2/18 -
X-100653455-C-T GLA c.902G>A p.Arg301Gln Missense 6/7 -
X-100653455-C-G GLA c.902G>C p.Arg301Pro Missense 6/7 -
X-100653831-A-G GLA c.743T>C p.Phe248Ser Missense 5/7 -
15-74373063-T-C GOLGA6A c.98A>G p.Gln33Arg Missense 2/18 -
X-100653534-G-A GLA c.823C>T p.Leu275Phe Missense 6/7 -
X-100653551-A-G GLA c.806T>C p.Val269Ala Missense 6/7 -
X-100658889-G-C GLA c.279C>G p.Asp93Glu Missense 2/7 -
X-100656740-C-T GLA c.427G>A p.Ala143Thr Missense 3/7 -
X-100653054-A-G GLA c.1033T>C p.Ser345Pro Missense 7/7 -
15-74374808-C-G GOLGA6A c.43G>C p.Glu15Gln Missense 1/18 -
X-100653886-C-T GLA c.688G>A p.Ala230Thr Missense 5/7 -
X-100656620-C-A GLA c.547G>T p.Gly183Cys Missense 3/7 -
15-74367805-C-G GOLGA6A c.786G>C p.Lys262Asn Missense 10/18 -
X-100653384-C-G GLA c.973G>C p.Gly325Arg Missense 6/7 -
X-100653384-C-T GLA c.973G>A p.Gly325Ser Missense 6/7 -
X-100656740-C-G GLA c.427G>C p.Ala143Pro Missense 3/7 -
X-100662717-C-T GLA c.175G>A p.Glu59Lys Missense 1/7 -
X-100652921-G-A GLA c.1166C>T p.Pro389Leu Missense 7/7 -
X-100653411-C-T GLA c.946G>A p.Val316Ile Missense 6/7 -
X-100653530-C-T GLA c.827G>A p.Ser276Asn Missense 6/7 -
X-100656642-G-C GLA c.525C>G p.Asp175Glu Missense 3/7 -
15-74368271-T-C GOLGA6A c.620A>G p.Glu207Gly Missense 8/18 -
X-100653825-T-G GLA c.749A>C p.Gln250Pro Missense 5/7 -
X-100653021-G-A GLA c.1066C>T p.Arg356Trp Missense 7/7 -
X-100652955-A-G GLA c.1132T>C p.Cys378Arg Missense 7/7 -
15-74369409-A-C GOLGA6A c.514T>G p.Leu172Val Missense 7/18 -
15-74373005-G-C GOLGA6A c.156C>G p.Asp52Glu Missense 2/18 -
X-100652972-A-C GLA c.1115T>G p.Leu372Arg Missense 7/7 -
X-100656745-G-A GLA c.422C>T p.Thr141Ile Missense 3/7 -
X-100653898-A-T GLA c.676T>A p.Trp226Arg Missense 5/7 -
X-100656659-C-T GLA c.508G>A p.Asp170Asn Missense 3/7 -
X-100655655-T-A GLA c.638A>T p.Lys213Met Missense 4/7 -
15-74368070-C-T GOLGA6A c.713G>A p.Gly238Glu Missense 9/18 -
X-100652936-A-T GLA c.1151T>A p.Ile384Asn Missense 7/7 -
X-100658921-C-T GLA c.247G>A p.Asp83Asn Missense 2/7 -
15-74367800-T-G GOLGA6A c.791A>C p.Asp264Ala Missense 10/18 -
X-100656672-A-C GLA c.495T>G p.Asp165Glu Missense 3/7 -
15-74367800-T-A GOLGA6A c.791A>T p.Asp264Val Missense 10/18 -
X-100653788-C-G GLA c.786G>C p.Trp262Cys Missense 5/7 -
X-100653861-C-T GLA c.713G>A p.Ser238Asn Missense 5/7 -
X-100658834-G-A GLA c.334C>T p.Arg112Cys Missense 2/7 -
X-100658807-C-T GLA c.361G>A p.Ala121Thr Missense 2/7 -
X-100658816-G-A GLA c.352C>T p.Arg118Cys Missense 2/7 -
X-100653903-T-C GLA c.671A>G p.Asn224Ser Missense 5/7 -
15-74367289-G-C GOLGA6A c.901C>G p.Gln301Glu Missense 11/18 -
X-100658966-G-A GLA c.202C>T p.Leu68Phe Missense 2/7 -
X-100658912-A-C GLA c.256T>G p.Tyr86Asp Missense 2/7 -
X-100658912-A-G GLA c.256T>C p.Tyr86His Missense 2/7 -
X-100653809-A-T GLA c.765T>A p.Asp255Glu Missense 5/7 -
X-100655733-A-C GLA c.560T>G p.Met187Arg Missense 4/7 -
X-100662725-C-T GLA c.167G>A p.Cys56Tyr Missense 1/7 -
X-100655673-T-C GLA c.620A>G p.Tyr207Cys Missense 4/7 -
X-100653934-G-C GLA c.640C>G p.Pro214Ala Missense 5/7 -
X-100653545-C-G GLA c.812G>C p.Gly271Ala Missense 6/7 -
X-100658896-A-G GLA c.272T>C p.Ile91Thr Missense 2/7 -
X-100653426-G-C GLA c.931C>G p.Leu311Val Missense 6/7 -
X-100653545-C-T GLA c.812G>A p.Gly271Asp Missense 6/7 -
15-74368092-C-T GOLGA6A c.691G>A p.Glu231Lys Missense 9/18 -
X-100652844-G-A GLA c.1243C>T p.Leu415Phe Missense 7/7 -
X-100652985-C-T GLA c.1102G>A p.Ala368Thr Missense 7/7 -
X-100655669-C-T GLA c.624G>A p.Met208Ile Missense 4/7 -
15-74367033-T-G GOLGA6A c.1157A>C p.Gln386Pro Missense 11/18 -
15-74370988-C-T GOLGA6A c.247G>A p.Val83Met Missense 3/18 -
X-100653009-C-A GLA c.1078G>T p.Gly360Cys Missense 7/7 -
X-100653509-T-G GLA c.848A>C p.Gln283Pro Missense 6/7 -
X-100653816-A-G GLA c.758T>C p.Ile253Thr Missense 5/7 -
X-100653816-A-C GLA c.758T>G p.Ile253Ser Missense 5/7 -
X-100656728-C-T GLA c.439G>A p.Gly147Arg Missense 3/7 -
X-100658810-G-C GLA c.358C>G p.Leu120Val Missense 2/7 -
15-74369633-A-G GOLGA6A c.386T>C p.Ile129Thr Missense 6/18 -
15-74373034-C-T GOLGA6A c.127G>A p.Gly43Arg Missense 2/18 -
X-100656683-A-C GLA c.484T>G p.Trp162Gly Missense 3/7 -
X-100653398-T-A GLA c.959A>T p.Asn320Ile Missense 6/7 -
X-100653410-A-C GLA c.947T>G p.Val316Gly Missense 6/7 -
X-100653934-G-A GLA c.640C>T p.Pro214Ser Missense 5/7 -
X-100662736-G-C GLA c.156C>G p.Cys52Trp Missense 1/7 -
X-100656655-C-A GLA c.512G>T p.Gly171Val Missense 3/7 -
X-100655731-A-C GLA c.562T>G p.Ser188Ala Missense 4/7 -
X-100652969-C-T GLA c.1118G>A p.Gly373Asp Missense 7/7 -
X-100653849-A-T GLA c.725T>A p.Ile242Asn Missense 5/7 -
X-100653930-T-C GLA c.644A>G p.Asn215Ser Missense 5/7 -
X-100656667-A-T GLA c.500T>A p.Leu167Gln Missense 3/7 -
X-100656736-C-A GLA c.431G>T p.Gly144Val Missense 3/7 -
X-100653879-A-G GLA c.695T>C p.Ile232Thr Missense 5/7 -
X-100653835-A-G GLA c.739T>C p.Ser247Pro Missense 5/7 -
X-100655686-C-T GLA c.607G>A p.Glu203Lys Missense 4/7 -
X-100662794-T-C GLA c.98A>G p.Asp33Gly Missense 1/7 -
15-74367227-C-G GOLGA6A c.963G>C p.Gln321His Missense 11/18 -
X-100662834-C-G GLA c.58G>C p.Ala20Pro Missense 1/7 -
X-100658869-C-G GLA c.299G>C p.Arg100Thr Missense 2/7 -
X-100653819-C-G GLA c.755G>C p.Arg252Thr Missense 5/7 -
X-100653827-G-T GLA c.747C>A p.Asn249Lys Missense 5/7 -
15-74369745-T-G GOLGA6A c.374A>C p.Glu125Ala Missense 5/18 -
X-100653064-T-G GLA c.1023A>C p.Glu341Asp Missense 7/7 -
X-100653792-C-A GLA c.782G>T p.Gly261Val Missense 5/7 -
X-100653858-A-G GLA c.716T>C p.Ile239Thr Missense 5/7 -
X-100656662-A-G GLA c.505T>C p.Phe169Leu Missense 3/7 -
X-100656773-C-T GLA c.394G>A p.Gly132Arg Missense 3/7 -
X-100658891-C-A GLA c.277G>T p.Asp93Tyr Missense 2/7 -
X-100655688-C-T GLA c.605G>A p.Cys202Tyr Missense 4/7 -
X-100662783-C-T GLA c.109G>A p.Ala37Thr Missense 1/7 -
X-100658972-C-T GLA c.196G>A p.Glu66Lys Missense 2/7 -
X-100653781-G-A GLA c.793C>T p.Pro265Ser Missense 5/7 -
X-100655745-C-A GLA c.548G>T p.Gly183Val Missense 4/7 -
X-100655680-G-T GLA c.613C>A p.Pro205Thr Missense 4/7 -
X-100655745-C-G GLA c.548G>C p.Gly183Ala Missense 4/7 -
X-100653407-A-C GLA c.950T>G p.Ile317Ser Missense 6/7 -
X-100653531-T-C GLA c.826A>G p.Ser276Gly Missense 6/7 -
X-100655734-T-C GLA c.559A>G p.Met187Val Missense 4/7 -
X-100653507-T-C GLA c.850A>G p.Met284Val Missense 6/7 -
X-100662833-G-T GLA c.59C>A p.Ala20Asp Missense 1/7 -
X-100653774-A-G GLA c.800T>C p.Met267Thr Missense 5/7 -