### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MPDU1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "MPDU1" "mannose-P-dolichol utilization defect 1" "17" "p13.1-p12" "unknown" "NG_009204.1" "UD_132085275916" "" "http://www.LOVD.nl/MPDU1" "Congenital Disorder of Glycosylation pages " "1" "7207" "9526" "604041" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/MPDU1_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2015-03-20 19:28:19" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000076" "MPDU1" "mannose-P-dolichol utilization defect 1, transcript variant 1" "001" "NM_004870.3" "" "NP_004861.2" "" "" "" "-216" "1405" "744" "7486965" "7491530" "00002" "2012-05-11 13:12:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "02830" "CDG1F" "glycosylation, congenital disorder of, type If (CDG-1F)" "AR" "609180" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MPDU1" "00139" "MPDU1" "02830" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00229665" "" "" "" "1" "" "02993" "" "" "?" "" "Israel" "" "0" "" "" "" "" "00229666" "" "" "" "1" "" "02993" "" "" "?" "" "Germany" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00229665" "02830" "00229666" "02830" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 02830 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000230758" "00229665" "1" "02993" "02993" "2012-09-11 10:22:53" "" "" "SEQ" "DNA" "" "" "0000230759" "00229666" "1" "02993" "02993" "2012-09-11 10:22:53" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000230758" "MPDU1" "0000230759" "MPDU1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 26 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000000667" "3" "30" "17" "7491177" "7491177" "subst" "0.714812" "00002" "MPDU1_000003" "g.7491177G>T" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs4227" "0" "" "" "g.7587859G>T" "" "likely benign" "" "0000268785" "0" "50" "17" "7480963" "7480963" "subst" "0" "02329" "EIF4A1_000002" "g.7480963G>A" "" "" "" "EIF4A1(NM_001416.4):c.845G>A (p.R282Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7577645G>A" "" "VUS" "" "0000282572" "0" "10" "17" "7490810" "7490810" "subst" "0.147768" "02325" "MPDU1_000006" "g.7490810G>A" "" "" "" "MPDU1(NM_004870.4):c.685G>A (p.A229T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7587492G>A" "" "benign" "" "0000287997" "0" "30" "17" "7496839" "7496839" "subst" "0.0101664" "01943" "FXR2_000004" "g.7496839G>A" "" "" "" "FXR2(NM_004860.3):c.1212C>T (p.S404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7593521G>A" "" "likely benign" "" "0000287998" "0" "30" "17" "7496411" "7496411" "subst" "0.00782161" "01943" "FXR2_000003" "g.7496411G>A" "" "" "" "FXR2(NM_004860.3):c.1419C>T (p.P473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7593093G>A" "" "likely benign" "" "0000287999" "0" "10" "17" "7495384" "7495385" "del" "0" "01943" "FXR2_000001" "g.7495384_7495385del" "" "" "" "FXR2(NM_004860.3):c.1927-137_1927-136delGA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7592066_7592067del" "" "benign" "" "0000325156" "0" "50" "17" "7481660" "7481660" "subst" "0" "01804" "EIF4A1_000003" "g.7481660A>C" "" "" "" "EIF4A1(NM_001204510.1):c.1015A>C (p.(Asn339His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7578342A>C" "" "VUS" "" "0000325160" "0" "50" "17" "7495858" "7495858" "subst" "1.2184E-5" "01804" "FXR2_000002" "g.7495858G>A" "" "" "" "FXR2(NM_004860.3):c.1789C>T (p.(Arg597Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7592540G>A" "" "VUS" "" "0000472377" "3" "99" "17" "7489312" "7489312" "subst" "1.21817E-5" "02993" "MPDU1_000002" "g.7489312G>A" "" "" "EarI+;HpyAV-" "" "" "Unknown" "" "" "0" "" "" "g.7585994G>A" "" "pathogenic" "" "0000472378" "3" "99" "17" "7489315" "7489315" "subst" "8.1211E-6" "02993" "MPDU1_000001" "g.7489315T>C" "" "" "TaqI+" "" "" "Unknown" "" "" "0" "" "" "g.7585997T>C" "" "pathogenic" "" "0000563157" "0" "50" "17" "7483298" "7483339" "del" "0" "01804" "MPDU1_000007" "g.7483298_7483339del" "" "" "" "CD68(NM_001040059.1):c.136_177del (p.(Pro47_Gly60del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7579980_7580021del" "" "VUS" "" "0000563160" "0" "30" "17" "7489255" "7489255" "subst" "0" "01943" "MPDU1_000010" "g.7489255T>G" "" "" "" "MPDU1(NM_004870.3):c.170-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585937T>G" "" "likely benign" "" "0000563161" "0" "30" "17" "7489351" "7489351" "subst" "0" "01943" "MPDU1_000011" "g.7489351T>C" "" "" "" "MPDU1(NM_004870.3):c.257T>C (p.L86S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7586033T>C" "" "likely benign" "" "0000563162" "0" "10" "17" "7490777" "7490777" "subst" "0.00177972" "01943" "MPDU1_000012" "g.7490777G>T" "" "" "" "MPDU1(NM_004870.3):c.652G>T (p.V218L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7587459G>T" "" "benign" "" "0000563164" "0" "30" "17" "7492619" "7492619" "subst" "0" "01804" "MPDU1_000013" "g.7492619T>C" "" "" "" "SOX15(NM_006942.1):c.376A>G (p.(Ser126Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7589301T>C" "" "likely benign" "" "0000563166" "0" "30" "17" "7495219" "7495219" "subst" "0.00245722" "01804" "MPDU1_000014" "g.7495219T>C" "" "" "" "FXR2(NM_004860.3):c.1951A>G (p.(Lys651Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7591901T>C" "" "likely benign" "" "0000658255" "0" "30" "17" "7489067" "7489067" "subst" "0.000475096" "01943" "MPDU1_000009" "g.7489067C>G" "" "" "" "MPDU1(NM_004870.3):c.121C>G (p.L41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7585749C>G" "" "likely benign" "" "0000855115" "0" "30" "17" "7490221" "7490221" "subst" "0.000767768" "01943" "MPDU1_000015" "g.7490221C>T" "" "" "" "MPDU1(NM_004870.3):c.393C>T (p.V131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969236" "0" "30" "17" "7490231" "7490231" "subst" "0.00418566" "01804" "MPDU1_000016" "g.7490231G>C" "" "" "" "MPDU1(NM_004870.3):c.403G>C (p.(Ala135Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982815" "0" "50" "17" "7489336" "7489336" "subst" "0" "01804" "MPDU1_000017" "g.7489336T>C" "" "" "" "MPDU1(NM_004870.4):c.242T>C (p.(Leu81Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003710" "0" "70" "17" "7495635" "7495636" "del" "0" "01804" "MPDU1_000018" "g.7495635_7495636del" "" "" "" "FXR2(NM_004860.3):c.1864_1865delAG (p.(Ser622fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042201" "0" "50" "17" "7487199" "7487199" "subst" "4.06372E-6" "01804" "MPDU1_000019" "g.7487199G>T" "" "" "" "MPDU1(NM_004870.4):c.19G>T (p.(Gly7*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042202" "0" "50" "17" "7490531" "7490531" "subst" "0.000438839" "01804" "MPDU1_000020" "g.7490531C>T" "" "" "" "MPDU1(NM_004870.4):c.560C>T (p.(Ala187Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055807" "0" "50" "17" "7487236" "7487236" "subst" "3.6583E-5" "01804" "MPDU1_000021" "g.7487236C>T" "" "" "" "MPDU1(NM_004870.4):c.56C>T (p.(Pro19Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055808" "0" "50" "17" "7490332" "7490332" "subst" "0" "01804" "MPDU1_000022" "g.7490332G>T" "" "" "" "MPDU1(NM_004870.4):c.504G>T (p.(Gly168=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055809" "0" "30" "17" "7490761" "7490761" "subst" "7.7205E-5" "01804" "MPDU1_000023" "g.7490761G>C" "" "" "" "MPDU1(NM_001330073.1):c.578G>C (p.(*193Serext*57))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MPDU1 ## Count = 26 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000000667" "00000076" "30" "1052" "0" "1052" "0" "c.*308G>T" "r.(=)" "p.(=)" "7" "0000268785" "00000076" "50" "-6218" "0" "-6218" "0" "c.-6218G>A" "r.(?)" "p.(=)" "" "0000282572" "00000076" "10" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Ala229Thr)" "" "0000287997" "00000076" "30" "6714" "0" "6714" "0" "c.*5970G>A" "r.(=)" "p.(=)" "" "0000287998" "00000076" "30" "6286" "0" "6286" "0" "c.*5542G>A" "r.(=)" "p.(=)" "" "0000287999" "00000076" "10" "5259" "0" "5260" "0" "c.*4515_*4516del" "r.(=)" "p.(=)" "" "0000325156" "00000076" "50" "-5521" "0" "-5521" "0" "c.-5521A>C" "r.(?)" "p.(=)" "" "0000325160" "00000076" "50" "5733" "0" "5733" "0" "c.*4989G>A" "r.(=)" "p.(=)" "" "0000472377" "00000076" "99" "218" "0" "218" "0" "c.218G>A" "r.(?)" "p.(Gly73Glu)" "3" "0000472378" "00000076" "99" "221" "0" "221" "0" "c.221T>C" "r.(?)" "p.(Leu74Ser)" "3" "0000563157" "00000076" "50" "-3883" "0" "-3842" "0" "c.-3883_-3842del" "r.(?)" "p.(=)" "" "0000563160" "00000076" "30" "170" "-9" "170" "-9" "c.170-9T>G" "r.(=)" "p.(=)" "" "0000563161" "00000076" "30" "257" "0" "257" "0" "c.257T>C" "r.(?)" "p.(Leu86Ser)" "" "0000563162" "00000076" "10" "652" "0" "652" "0" "c.652G>T" "r.(?)" "p.(Val218Leu)" "" "0000563164" "00000076" "30" "2494" "0" "2494" "0" "c.*1750T>C" "r.(=)" "p.(=)" "" "0000563166" "00000076" "30" "5094" "0" "5094" "0" "c.*4350T>C" "r.(=)" "p.(=)" "" "0000658255" "00000076" "30" "121" "0" "121" "0" "c.121C>G" "r.(?)" "p.(Leu41Val)" "" "0000855115" "00000076" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Val131=)" "" "0000969236" "00000076" "30" "403" "0" "403" "0" "c.403G>C" "r.(?)" "p.(Ala135Pro)" "" "0000982815" "00000076" "50" "242" "0" "242" "0" "c.242T>C" "r.(?)" "p.(Leu81Pro)" "" "0001003710" "00000076" "70" "5510" "0" "5511" "0" "c.*4766_*4767del" "r.(=)" "p.(=)" "" "0001042201" "00000076" "50" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Gly7*)" "" "0001042202" "00000076" "50" "560" "0" "560" "0" "c.560C>T" "r.(?)" "p.(Ala187Val)" "" "0001055807" "00000076" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Pro19Leu)" "" "0001055808" "00000076" "50" "504" "0" "504" "0" "c.504G>T" "r.(?)" "p.(=)" "" "0001055809" "00000076" "30" "636" "0" "636" "0" "c.636G>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000667" "0000230758" "0000472377" "0000230759" "0000472378"