PMID: 28676128

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis.

Orphanet journal of rare diseases
L Ou, MJ Przybilla, CB Whitley
2017-07-04

200 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
4-995803-GGAG-G IDUA c.826_828delGAG p.Glu276delGlu InFrameDeletion 7/14 -
4-996238-C-G IDUA c.1154C>G p.Pro385Arg Missense 8/14 -
4-981704-G-A IDUA c.266G>A p.Arg89Gln Missense 2/14 -
4-981601-C-G IDUA c.163C>G p.Pro55Ala Missense 2/14 -
4-981024-G-A IDUA c.152G>A p.Gly51Asp Missense 1/14 -
4-998240-A-C IDUA c.*59A>C - 3-UTRSNV 14/14 -
4-996113-C-A IDUA c.1029C>A p.Tyr343* Nonsense 8/14 -
4-997201-GG-G IDUA c.1593delG p.Leu532Cysfs*28 Frameshift 11/14 -
4-980994-G-A IDUA c.122G>A p.Trp41* Nonsense 1/14 -
4-996129-CGAC-C IDUA c.1045_1047delGAC p.Asp349delAsp InFrameDeletion 8/14 -
4-995590-T-A IDUA c.713T>A p.Leu238Gln Missense 6/14 -
4-981661-G-C IDUA c.223G>C p.Ala75Pro Missense 2/14 -
4-994407-A-C IDUA c.307A>C p.Thr103Pro Missense 3/14 -
4-996592-T-C IDUA c.1262T>C p.Leu421Pro Missense 9/14 -
4-995298-C-G IDUA c.536C>G p.Thr179Arg Missense 5/14 -
4-994465-G-A IDUA c.365G>A p.Arg122Lys Missense 3/14 -
4-997876-T-A IDUA c.1804T>A p.Phe602Ile Missense 13/14 -
4-995933-C-T IDUA c.956C>T p.Ala319Val Missense 7/14 -
4-997205-C-T IDUA c.1597C>T p.Pro533Ser Missense 11/14 -
4-997205-C-G IDUA c.1597C>G p.Pro533Ala Missense 11/14 -
4-996896-G-C IDUA c.1475G>C p.Arg492Pro Missense 10/14 -
10-89720732-C-CC PTEN c.883_883dupC p.Leu295Profs*3 Frameshift 8/9 -
4-997395-A-G IDUA c.1709A>G p.Asp570Gly Missense 12/14 -
4-995902-C-A IDUA c.925C>A p.Pro309Thr Missense 7/14 -
4-995644-T-C IDUA c.767T>C p.Leu256Pro Missense 6/14 -
4-996519-AG-A IDUA c.1190-1delG - IntronicDeletion - 8/13
4-994449-GT-G IDUA c.349delT p.Tyr117Thrfs*16 Frameshift 3/14 -
4-996540-G-T IDUA c.1210G>T p.Glu404* Nonsense 9/14 -
4-995544-G-A IDUA c.667G>A p.Asp223Asn Missense 6/14 -
4-995654-C-G IDUA c.777C>G p.Ile259Met Missense 6/14 -
4-995293-C-T IDUA c.531C>T p.Phe177Phe Synonymous 5/14 -
4-995293-C-G IDUA c.531C>G p.Phe177Leu Missense 5/14 -
4-993459-G-A IDUA c.300-941G>A - IntronicSNV - 2/13
1-32800688-T-G MARCKSL1 c.98A>C p.His33Pro Missense 2/2 -
4-998096-G-A IDUA c.1877G>A p.Trp626* Nonsense 14/14 -
4-996187-G-A IDUA c.1103G>A p.Arg368His Missense 8/14 -
4-995872-G-T IDUA c.895G>T p.Glu299* Nonsense 7/14 -
4-997822-C-T IDUA c.1750C>T p.Gln584* Nonsense 13/14 -
4-994705-A-T IDUA c.421A>T p.Thr141Ser Missense 4/14 -
4-995825-T-C IDUA c.848T>C p.Ile283Thr Missense 7/14 -
4-994683-G-A IDUA c.399G>A p.Met133Ile Missense 4/14 -
4-994683-G-C IDUA c.399G>C p.Met133Ile Missense 4/14 -
4-996068-G-C IDUA c.984G>C p.Gln328His Missense 8/14 -
4-981700-G-T IDUA c.262G>T p.Val88Phe Missense 2/14 -
4-996129-G-T IDUA c.1045G>T p.Asp349Tyr Missense 8/14 -
4-996129-G-A IDUA c.1045G>A p.Asp349Asn Missense 8/14 -
4-995942-T-A IDUA c.965T>A p.Val322Glu Missense 7/14 -
4-981679-C-T IDUA c.241C>T p.Pro81Ser Missense 2/14 -
4-996214-C-T IDUA c.1130C>T p.Pro377Leu Missense 8/14 -
4-995351-G-A IDUA c.589G>A p.Gly197Ser Missense 5/14 -
4-996113-C-G IDUA c.1029C>G p.Tyr343* Nonsense 8/14 -
4-996557-G-GG IDUA c.1225_1225dupG p.Thr410Aspfs*99 Frameshift 9/14 -
4-995294-G-A IDUA c.532G>A p.Glu178Lys Missense 5/14 -
4-996851-A-G IDUA c.1430A>G p.Asp477Gly Missense 10/14 -
4-981688-G-A IDUA c.250G>A p.Gly84Ser Missense 2/14 -
4-981688-G-C IDUA c.250G>C p.Gly84Arg Missense 2/14 -
4-996632-G-C IDUA c.1302G>C p.Trp434Cys Missense 9/14 -
4-980995-G-A IDUA c.123G>A p.Trp41* Nonsense 1/14 -
4-997211-C-T IDUA c.1603C>T p.Leu535Phe Missense 11/14 -
4-995656-C-T IDUA c.779C>T p.Ser260Phe Missense 6/14 -
4-981685-C-T IDUA c.247C>T p.Arg83Cys Missense 2/14 -
4-981630-C-A IDUA c.192C>A p.Tyr64* Nonsense 2/14 -
4-996135-G-A IDUA c.1051G>A p.Ala351Thr Missense 8/14 -
4-994763-C-A IDUA c.479C>A p.Ala160Asp Missense 4/14 -
4-996237-C-T IDUA c.1153C>T p.Pro385Ser Missense 8/14 -
4-995920-G-T IDUA c.943G>T p.Asp315Tyr Missense 7/14 -
4-996636-G-C IDUA c.1306G>C p.Ala436Pro Missense 9/14 -
4-995664-A-T IDUA c.787A>T p.Arg263Trp Missense 6/14 -
4-995490-T-A IDUA c.613T>A p.Cys205Ser Missense 6/14 -
4-996555-G-C IDUA c.1225G>C p.Gly409Arg Missense 9/14 -
4-995306-G-A IDUA c.544G>A p.Glu182Lys Missense 5/14 -
4-996599-C-A IDUA c.1269C>A p.Ser423Arg Missense 9/14 -
4-996599-C-G IDUA c.1269C>G p.Ser423Arg Missense 9/14 -
4-994456-A-C IDUA c.356A>C p.Asp119Ala Missense 3/14 -
4-981665-A-G IDUA c.227A>G p.Tyr76Cys Missense 2/14 -
4-995634-G-T IDUA c.757G>T p.Gly253Cys Missense 6/14 -
4-997815-C-G IDUA c.1743C>G p.Tyr581* Nonsense 13/14 -
4-996204-A-C IDUA c.1120A>C p.Thr374Pro Missense 8/14 -
4-996232-G-A IDUA c.1148G>A p.Arg383His Missense 8/14 -
4-998102-G-C IDUA c.1883G>C p.Arg628Pro Missense 14/14 -
4-996138-T-C IDUA c.1054T>C p.Phe352Leu Missense 8/14 -
4-996223-A-G IDUA c.1139A>G p.Gln380Arg Missense 8/14 -
4-995491-G-A IDUA c.614G>A p.Cys205Tyr Missense 6/14 -
4-995309-C-T IDUA c.547C>T p.Pro183Ser Missense 5/14 -
4-996932-T-C IDUA c.1511T>C p.Met504Thr Missense 10/14 -
4-995882-C-G IDUA c.905C>G p.Pro302Arg Missense 7/14 -
4-995292-T-C IDUA c.530T>C p.Phe177Ser Missense 5/14 -
4-995533-G-A IDUA c.656G>A p.Gly219Glu Missense 6/14 -
4-981703-C-T IDUA c.265C>T p.Arg89Trp Missense 2/14 -
4-995285-T-C IDUA c.523T>C p.Trp175Arg Missense 5/14 -
4-995480-C-A IDUA c.603C>A p.Tyr201* Nonsense 6/14 -
4-995480-C-G IDUA c.603C>G p.Tyr201* Nonsense 6/14 -
4-994706-C-G IDUA c.422C>G p.Thr141Ser Missense 4/14 -
4-996180-A-C IDUA c.1096A>C p.Thr366Pro Missense 8/14 -
15-40477468-GC-G BUB1B c.854delC p.Ala285Glufs*12 Frameshift 7/23 -
4-998074-C-G IDUA c.1855C>G p.Arg619Gly Missense 14/14 -
4-998074-C-T IDUA c.1855C>T p.Arg619* Nonsense 14/14 -
4-996183-G-A IDUA c.1099G>A p.Ala367Thr Missense 8/14 -
4-995308-G-C IDUA c.546G>C p.Glu182Asp Missense 5/14 -
4-995308-G-T IDUA c.546G>T p.Glu182Asp Missense 5/14 -
4-998095-T-A IDUA c.1876T>A p.Trp626Arg Missense 14/14 -
4-998095-T-C IDUA c.1876T>C p.Trp626Arg Missense 14/14 -
4-996171-C-T IDUA c.1087C>T p.Arg363Cys Missense 8/14 -
4-996247-C-G IDUA c.1163C>G p.Thr388Arg Missense 8/14 -
4-996177-C-G IDUA c.1093C>G p.Leu365Val Missense 8/14 -
4-996906-C-A IDUA c.1485C>A p.Phe495Leu Missense 10/14 -
4-995264-G-C IDUA c.502G>C p.Gly168Arg Missense 5/14 -
4-995264-G-A IDUA c.502G>A p.Gly168Arg Missense 5/14 -
4-996063-G-C IDUA c.979G>C p.Ala327Pro Missense 8/14 -
4-996133-A-T IDUA c.1049A>T p.Asn350Ile Missense 8/14 -
4-994713-T-A IDUA c.429T>A p.Phe143Leu Missense 4/14 -
4-981674-C-T IDUA c.236C>T p.Ala79Val Missense 2/14 -
4-998077-G-T IDUA c.1858G>T p.Val620Phe Missense 14/14 -
4-996908-C-T IDUA c.1487C>T p.Pro496Leu Missense 10/14 -
4-996908-C-G IDUA c.1487C>G p.Pro496Arg Missense 10/14 -
4-995792-T-C IDUA c.815T>C p.Ile272Thr Missense 7/14 -
4-995905-C-T IDUA c.928C>T p.Gln310* Nonsense 7/14 -
4-996890-T-C IDUA c.1469T>C p.Leu490Pro Missense 10/14 -
4-994482-C-T IDUA c.382C>T p.Pro128Ser Missense 3/14 -
4-996186-C-T IDUA c.1102C>T p.Arg368Cys Missense 8/14 -
4-995900-T-C IDUA c.923T>C p.Leu308Pro Missense 7/14 -
4-995563-C-T IDUA c.686C>T p.Pro229Leu Missense 6/14 -
4-995875-G-A IDUA c.898G>A p.Ala300Thr Missense 7/14 -
4-995487-G-A IDUA c.610G>A p.Ala204Thr Missense 6/14 -
4-995786-T-G IDUA c.809T>G p.Ile270Ser Missense 7/14 -
4-995297-A-T IDUA c.535A>T p.Thr179Ser Missense 5/14 -
4-996730-CC-C IDUA c.1400delC p.Pro467Argfs*58 Frameshift 9/14 -
4-995530-T-C IDUA c.653T>C p.Leu218Pro Missense 6/14 -
4-997206-C-T IDUA c.1598C>T p.Pro533Leu Missense 11/14 -
4-997206-C-G IDUA c.1598C>G p.Pro533Arg Missense 11/14 -
4-996536-G-A IDUA c.1206G>A p.Trp402* Nonsense 9/14 -
4-981671-G-A IDUA c.233G>A p.Gly78Asp Missense 2/14 -
4-997137-C-G IDUA c.1529C>G p.Pro510Arg Missense 11/14 -
4-997185-T-C IDUA c.1577T>C p.Leu526Pro Missense 11/14 -
4-998137-GGAGGTCCCTG-G IDUA c.1918_1927delGAGGTCCCTG p.Glu640Cysfs*94 Frameshift 14/14 -
4-995783-C-G IDUA c.806C>G p.Ser269Cys Missense 7/14 -
4-995467-G-C IDUA c.590G>C p.Gly197Ala Missense 6/14 -
4-995467-G-A IDUA c.590G>A p.Gly197Asp Missense 6/14 -
4-995638-T-G IDUA c.761T>G p.Val254Gly Missense 6/14 -
4-994467-G-A IDUA c.367G>A p.Glu123Lys Missense 3/14 -
4-995839-C-G IDUA c.862C>G p.Pro288Ala Missense 7/14 -
4-998093-A-G IDUA c.1874A>G p.Tyr625Cys Missense 14/14 -
4-998101-C-T IDUA c.1882C>T p.Arg628* Nonsense 14/14 -
4-995803-G-A IDUA c.826G>A p.Glu276Lys Missense 7/14 -
4-995586-C-T IDUA c.709C>T p.Leu237Phe Missense 6/14 -
4-996669-C-T IDUA c.1339C>T p.Arg447Cys Missense 9/14 -
4-995932-G-A IDUA c.955G>A p.Ala319Thr Missense 7/14 -
4-995263-C-G IDUA c.501C>G p.Tyr167* Nonsense 5/14 -
4-994440-C-G IDUA c.340C>G p.Leu114Val Missense 3/14 -
4-994440-C-A IDUA c.340C>A p.Leu114Met Missense 3/14 -
4-996231-C-G IDUA c.1147C>G p.Arg383Gly Missense 8/14 -
4-996172-G-A IDUA c.1088G>A p.Arg363His Missense 8/14 -
4-994441-T-G IDUA c.341T>G p.Leu114Arg Missense 3/14 -
4-995342-A-C IDUA c.580A>C p.Thr194Pro Missense 5/14 -
4-996597-A-C IDUA c.1267A>C p.Ser423Arg Missense 9/14 -
4-995587-T-A IDUA c.710T>A p.Leu237His Missense 6/14 -
4-995587-T-G IDUA c.710T>G p.Leu237Arg Missense 6/14 -
4-994762-G-A IDUA c.478G>A p.Ala160Thr Missense 4/14 -
4-995770-G-C IDUA c.793G>C p.Gly265Arg Missense 7/14 -
4-996130-A-G IDUA c.1046A>G p.Asp349Gly Missense 8/14 -
4-995259-G-C IDUA c.497G>C p.Arg166Thr Missense 5/14 -
4-995608-G-A IDUA c.731G>A p.Gly244Asp Missense 6/14 -
4-995874-G-T IDUA c.897G>T p.Glu299Asp Missense 7/14 -
4-981598-C-T IDUA c.160C>T p.Pro54Ser Missense 2/14 -
4-996128-C-G IDUA c.1044C>G p.Asn348Lys Missense 8/14 -
4-997805-T-A IDUA c.1733T>A p.Leu578Gln Missense 13/14 -
4-981661-G-A IDUA c.223G>A p.Ala75Thr Missense 2/14 -
4-998080-C-T IDUA c.1861C>T p.Arg621* Nonsense 14/14 -
4-996121-T-G IDUA c.1037T>G p.Leu346Arg Missense 8/14 -
4-995500-G-A IDUA c.623G>A p.Gly208Asp Missense 6/14 -
4-996535-G-A IDUA c.1205G>A p.Trp402* Nonsense 9/14 -
4-981597-C-A IDUA c.159C>A p.Cys53* Nonsense 2/14 -
4-997367-C-T IDUA c.1681C>T p.Gln561* Nonsense 12/14 -
4-996887-G-C IDUA c.1466G>C p.Arg489Pro Missense 10/14 -
4-996899-C-G IDUA c.1478C>G p.Pro493Arg Missense 10/14 -
4-981683-A-C IDUA c.245A>C p.His82Pro Missense 2/14 -
4-995797-G-T IDUA c.820G>T p.Glu274* Nonsense 7/14 -
4-995571-C-A IDUA c.694C>A p.Pro232Thr Missense 6/14 -
4-995640-C-T IDUA c.763C>T p.Arg255Trp Missense 6/14 -
4-996220-T-G IDUA c.1136T>G p.Val379Gly Missense 8/14 -
4-995837-T-G IDUA c.860T>G p.Phe287Cys Missense 7/14 -
4-981646-C-T IDUA c.208C>T p.Gln70* Nonsense 2/14 -
4-995310-C-G IDUA c.548C>G p.Pro183Arg Missense 5/14 -
4-981616-C-T IDUA c.178C>T p.Gln60* Nonsense 2/14 -
4-995336-CT-C IDUA c.574delT p.Ser192Profs*2 Frameshift 5/14 -
4-994455-G-A IDUA c.355G>A p.Asp119Asn Missense 3/14 -
4-994455-G-T IDUA c.355G>T p.Asp119Tyr Missense 3/14 -
4-995524-T-C IDUA c.647T>C p.Leu216Pro Missense 6/14 -
4-995590-T-G IDUA c.713T>G p.Leu238Arg Missense 6/14 -
4-995596-A-G IDUA c.719A>G p.His240Arg Missense 6/14 -
4-995618-C-A IDUA c.741C>A p.Phe247Leu Missense 6/14 -
4-996271-T-C IDUA c.1187T>C p.Leu396Pro Missense 8/14 -
4-981625-C-T IDUA c.187C>T p.Gln63* Nonsense 2/14 -
4-996132-A-G IDUA c.1048A>G p.Asn350Asp Missense 8/14 -
4-997816-G-A IDUA c.1744G>A p.Glu582Lys Missense 13/14 -
4-995499-G-A IDUA c.622G>A p.Gly208Ser Missense 6/14 -
10-89624256-GCAG-G PTEN c.30_32delCAG p.Ser10delSer InFrameDeletion 1/9 -
10-89717632-G-GG PTEN c.657_657dupG p.Leu220Alafs*23 Frameshift 7/9 -
4-995484-G-A IDUA c.607G>A p.Asp203Asn Missense 6/14 -
4-995263-C-A IDUA c.501C>A p.Tyr167* Nonsense 5/14 -