### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERPINA3) # 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}}" "SERPINA3" "serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3" "14" "q32.1" "unknown" "NG_012879.1" "UD_132084519489" "" "https://www.LOVD.nl/SERPINA3" "" "1" "16" "12" "107280" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SERPINA3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-10-04 15:55:24" "00000" "2025-05-05 21:14:00" ## 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}}" "00018700" "SERPINA3" "serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3" "001" "NM_001085.4" "" "NP_001076.2" "" "" "" "-79" "1511" "1272" "95078714" "95090390" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "02618" "COPD" "pulmonary disease, obstructive, chronic, susceptibility to (COPD)" "" "606963" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "06970" "AACT" "alpha-1-antichymotrypsin deficiency" "" "" "" "" "" "00006" "2022-10-04 15:58:49" "" "" "06971" "OCD" "cerebrovascular disease, occlusive" "" "" "" "" "" "00006" "2022-10-04 15:59:48" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SERPINA3" "06970" "SERPINA3" "06971" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00418692" "" "" "" "26" "" "03256" "{PMID:Koivuluoma 2021:33279852}, {DOI:Koivuluoma 2021:10.1016/j.ejca.2020.10.033}" "" "" "" "Finland" "" "0" "" "" "" "" "00418763" "" "" "" "3" "" "03256" "{PMID:Poller 1993:8244391}, {DOI:Poller 1993:10.1006/geno.1993.1396}" "A German family presenting with 3 affected individuals in 3 generations (F, 2M)" "F;M" "" "Germany" "" "0" "" "" "" "family" "00418770" "" "" "" "1" "" "03256" "{DOI:Faber 1993:10.1016/S0168-8278(05)80275-2}" "" "" "" "Germany" "" "0" "" "" "" "" "00419321" "" "" "" "1" "" "03256" "{DOI:Wood 2006:10.1186/1465-9921-7-130} {DOI:Wood 2009:10.1186/gm112}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00418692" "00318" "00418763" "02618" "00418770" "02618" "00419321" "02618" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00318, 02618, 06970, 06971 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000309991" "00318" "00418692" "03256" "Unknown" "" "Susceptibility to beast cancer" "" "" "" "" "" "" "" "" "" "" "0000310059" "02618" "00418763" "03256" "Familial" "" "Proband presenting with severe COPD" "" "" "" "" "" "" "" "" "" "" "0000310066" "02618" "00418770" "03256" "Unknown" "" "Proband presenting with asthma, progression to emphysema, and chronic HCV positive liver disease with selective accumulation of α1-antichymotrypsin in hepatocytes" "" "" "" "" "" "" "" "" "" "" "0000310607" "02618" "00419321" "03256" "Unknown" "" "Probands presenting with chronic obstructive pulmonary disease" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000419987" "00418692" "1" "03256" "03256" "2022-10-04 15:09:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000420061" "00418763" "1" "03256" "03256" "2022-10-06 10:37:25" "" "" "SEQ" "DNA" "blood" "" "0000420068" "00418770" "1" "03256" "03256" "2022-10-06 12:06:07" "" "" "SEQ" "DNA" "blood" "" "0000420624" "00419321" "1" "03256" "03256" "2022-10-19 17:44:40" "" "" "?" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000419987" "SERPINA3" "0000420061" "SERPINA3" "0000420068" "SERPINA3" "0000420624" "SERPINA3" ## 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 = 6 "{{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}}" "0000724927" "0" "30" "14" "95085642" "95085642" "subst" "0.00283865" "01943" "SERPINA3_000001" "g.95085642C>G" "" "" "" "SERPINA3(NM_001085.4):c.754C>G (p.P252A), SERPINA3(NM_001085.5):c.754C>G (p.(Pro252Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880219" "0" "50" "14" "95088677" "95088677" "subst" "0.000337034" "03256" "SERPINA3_000002" "g.95088677G>C" "C=0.000335" "{PMID:Koivuluoma 2021:33279852}, {DOI:Koivuluoma 2021:10.1016/j.ejca.2020.10.033}" "" "" "In silico tools (BDGP Splice Site Prediction; https://www.fruitfly.org/seq_tools/splice.html) and NetGene2; http://www.cbs.dtu.dk/services/NetGene2/ predict deleterious consequences of the splice acceptor variant c.918-1G>C" "Germline" "" "rs199710314" "0" "" "" "g.94622340G>C" "" "likely pathogenic" "" "0000880315" "0" "90" "14" "95081011" "95081011" "subst" "0" "03256" "SERPINA3_000003" "g.95081011T>C" "0.00006" "{PMID:Poller 1993:8244391}, {DOI:Poller 1993:10.1006/geno.1993.1396}" "" "" "c.233T>C variant with a Leu55-to-Pro substitution causing a defective antichymotrypsin allele has been identified as Bochum-1.\r\nLeu55-to-Pro conformational change promotes aggregation and retention in hepatocytes culminating in reduced circulating levels of the inhibitor, a similar observation to that of AAT deficiency." "Germline" "yes" "rs1800463" "0" "" "" "g.94614674T>C" "{CV:VCV000018049.1}" "pathogenic (dominant)" "" "0000880333" "0" "30" "14" "95085642" "95085642" "subst" "0.00283865" "03256" "SERPINA3_000001" "g.95085642C>G" "0.00120" "{DOI:Faber 1993:10.1016/S0168-8278(05)80275-2}" "" "229Pro-Ala substitution" "c.754C>G variant identified as Bonn-1 and characterized as pathogenic on the basis of three reports (1993) and as likely benign thereafter (2022)\r\np.(Pro252Ala) mutant protein expression is reduced; mutation located at the head of the molecule in the segment connecting beta-strands s3C and slB; a Pro is a suitable residue for initiating such chain bends, but most homologous serpins displays other amino acids at this position." "Germline" "" "rs17473" "" "" "" "g.94619305C>G" "{CV:VCV000018050.4}" "likely benign (!)" "" "0000880984" "0" "30" "14" "95080803" "95080803" "subst" "0.446631" "03256" "SERPINA3_000004" "g.95080803G>A" "0.39936" "{DOI:Wood 2006:10.1186/1465-9921-7-130} {DOI:Wood 2009:10.1186/gm112}" "" "" "c.25G>A variant affects the signal peptide, with subsequent alteration of protein expression and reduced control of neutrophil elastase and cathepsin G activities" "Germline" "" "rs4934" "" "" "" "g.94614466G>A" "{CV:VCV000018051.3}" "benign" "" "0001040177" "0" "30" "14" "95085642" "95085642" "subst" "0.00283865" "01804" "SERPINA3_000001" "g.95085642C>G" "" "" "" "SERPINA3(NM_001085.4):c.754C>G (p.P252A), SERPINA3(NM_001085.5):c.754C>G (p.(Pro252Ala))" "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 SERPINA3 ## Count = 6 "{{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}}" "0000724927" "00018700" "30" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "" "0000880219" "00018700" "50" "918" "-1" "918" "-1" "c.918-1G>C" "r.spl" "p.?" "3i" "0000880315" "00018700" "90" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Leu78Pro)" "2" "0000880333" "00018700" "30" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "3" "0000880984" "00018700" "30" "25" "0" "25" "0" "c.25G>A" "r.(?)" "p.(Ala9Thr)" "2" "0001040177" "00018700" "30" "754" "0" "754" "0" "c.754C>G" "r.(?)" "p.(Pro252Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000419987" "0000880219" "0000420061" "0000880315" "0000420068" "0000880333" "0000420624" "0000880984"