### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC3A1) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "SLC3A1" "solute carrier family 3 (amino acid transporter heavy chain), member 1" "2" "p16.3" "unknown" "NC_000002.11" "UD_132118341675" "" "" "" "1" "1" "11025" "6519" "104614" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00001186" "SLC3A1" "solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1" "001" "NM_000341.3" "" "NP_000332.2" "" "" "" "-78" "2243" "2058" "44502597" "44547963" "00001" "2013-11-12 21:57:36" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 8 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000823" "0" "99" "2" "44507966" "44507966" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:14" "SLC3A1_000001" "g.44507966G>A" "" "{PMID:8054986:8054986}" "" "rs121912694" "subst" "0" ";" "0.412" "" "" "" "" "MSCV_0000823" "" "0000000824" "0" "99" "2" "44528215" "44528215" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:44:47" "SLC3A1_000002" "g.44528215G>A" "" "{PMID:11748844:11748844};{PMID:12820697:12820697}" "" "rs121912697" "subst" "0" ";" "4.380" "" "" "" "" "MSCV_0000824" "" "0000000825" "0" "99" "2" "44539792" "44539792" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:44:44" "SLC3A1_000003" "g.44539792T>A" "" "{PMID:11748844:11748844};{PMID:8054986:8054986};{PMID:8792820:8792820};{PMID:12820697:12820697};{PMID:15635077:15635077}" "" "rs121912691" "subst" "0" ";" "5.820" "" "" "" "" "MSCV_0000825" "" "0000000826" "0" "99" "2" "44539792" "44539792" "subst" "35" "0.00207597" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:44:44" "SLC3A1_000004" "g.44539792T>C" "" "{PMID:11748844:11748844};{PMID:8054986:8054986};{PMID:8792820:8792820};{PMID:12820697:12820697};{PMID:15635077:15635077}" "" "rs121912691" "subst" "0" ";" "5.820" "" "" "" "" "MSCV_0000826" "" "0000000827" "0" "99" "2" "44541070" "44541070" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-05-09 01:44:43" "SLC3A1_000005" "g.44541070T>A" "" "" "" "" "subst" "0" ";" "5.520" "" "" "" "" "MSCV_0000827" "" "0000000828" "0" "99" "2" "44547563" "44547563" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:22" "SLC3A1_000006" "g.44547563C>A" "" "{PMID:8054986:8054986}" "" "rs121912696" "subst" "0" ";" "5.990" "" "" "" "" "MSCV_0000828" "" "0000000829" "0" "99" "2" "44547675" "44547675" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:53:23" "SLC3A1_000007" "g.44547675C>G" "" "{PMID:8054986:8054986}" "" "rs121912695" "subst" "0" ";" "0.219" "" "" "" "" "MSCV_0000829" "" "0000000830" "0" "99" "2" "44547753" "44547753" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-09-04 05:17:21" "SLC3A1_000008" "g.44547753T>C" "" "{PMID:8054986:8054986}" "" "rs121912693" "subst" "0" ";" "5.990" "" "" "" "" "MSCV_0000830" "" ## 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. ## Count = 8 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000823" "00001186" "55" "542" "0" "542" "0" "c.542G>A" "2/10" "p.(Arg181Gln)" "r.(?)" "benign(0.037)" "" "missense_variant" "" "" "tolerated(0.41)" "0000000824" "00001186" "55" "1085" "0" "1085" "0" "c.1085G>A" "6/10" "p.(Arg362His)" "r.(?)" "probably_damaging(0.954)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000825" "00001186" "55" "1400" "0" "1400" "0" "c.1400T>A" "8/10" "p.(Met467Lys)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000000826" "00001186" "55" "1400" "0" "1400" "0" "c.1400T>C" "8/10" "p.(Met467Thr)" "r.(?)" "possibly_damaging(0.823)" "" "missense_variant" "" "" "deleterious(0)" "0000000827" "00001186" "55" "1597" "0" "1597" "0" "c.1597T>A" "9/10" "p.(Tyr533Asn)" "r.(?)" "probably_damaging(0.991)" "" "missense_variant" "" "" "deleterious(0)" "0000000828" "00001186" "55" "1843" "0" "1843" "0" "c.1843C>A" "10/10" "p.(Pro615Thr)" "r.(?)" "possibly_damaging(0.703)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000829" "00001186" "55" "1955" "0" "1955" "0" "c.1955C>G" "10/10" "p.(Thr652Arg)" "r.(?)" "benign(0.193)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000830" "00001186" "55" "2033" "0" "2033" "0" "c.2033T>C" "10/10" "p.(Leu678Pro)" "r.(?)" "probably_damaging(0.928)" "" "missense_variant" "" "" "deleterious(0.01)" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0