### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PMPCA) # 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}}" "PMPCA" "peptidase (mitochondrial processing) alpha" "9" "q34.3" "unknown" "NC_000009.11" "UD_138455375230" "" "" "" "1" "1" "18667" "23203" "613036" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-15 16:06:56" "" "" "00001" "2018-06-26 14:02:57" "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 = 3 "{{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}}" "00002648" "PMPCA" "transcript variant X2" "001" "XM_005266060.1" "" "XP_005266117.1" "" "" "" "-309" "1682" "1185" "139305110" "139318213" "00001" "2013-11-15 16:16:03" "" "" "" "9" "00002649" "PMPCA" "transcript variant X1" "002" "XM_005266059.1" "" "XP_005266116.1" "" "" "" "-11" "2510" "1692" "139305110" "139317530" "00001" "2013-11-15 16:16:03" "" "" "" "9" "00002650" "PMPCA" "peptidase (mitochondrial processing) alpha" "003" "NM_015160.1" "" "NP_055975.1" "" "" "" "-5" "2075" "1578" "139305116" "139318213" "00001" "2013-11-15 16:16:03" "" "" "" "9" ## 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 = 2 "{{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}}" "0000005461" "11" "77" "9" "139313299" "139313299" "subst" "0" "0" "00001" "9" "00001" "2017-10-13 08:19:52" "00001" "2018-06-26 14:02:57" "PMPCA_000002" "g.139313299G>A" "0" "unpublished /publication/ etc" "" "" "Substitution" "0" "MSeqDR User" "5.070" "9:g.139313299G>A" "MSCV_0000002" "Germline (inherited)" "yes" "MSCV_0000002" "" "0000023569" "11" "99" "9" "139313082" "139313082" "subst" "0" "0" "00001" "9" "00001" "2018-06-26 13:46:04" "00001" "2018-06-26 13:59:50" "PMPCA_000001" "g.139313082G>A" "" "27148589" "" "" "Substitution" "0" "" "5.230" "9:g.139313082G>A" "MSeqDR User pankaj agrawal Publication \r\nJoshi M, Anselm I, Shi J, Bale T, Towne M, Schmitz-Abe K, Crowley L, Giani F, Kazerounian S, Markianos K, Lidov H, Folkerth R, Sankaran V, Agrawal PB. 2016. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-alpha protein (PMPCA) cause a severe mitochondrial disease. CSH Mol Case Stud doi: 10.1101/mcs.a000786" "Germline (inherited)" "yes" "MSCV_0000001" "" ## 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 = 4 "{{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}}" "0000005461" "00002648" "00" "736" "0" "736" "0" "c.736G>A" "9" "p.(Ala246Thr)" "" "possiblyDamaging" "" "missense" "" "Exon" "-" "0000005461" "00002649" "00" "1129" "0" "1129" "0" "c.1129G>A" "9" "p.(Ala377Thr)" "" "possiblyDamaging" "" "missense" "" "Exon" "-" "0000005461" "00002650" "00" "1129" "0" "1129" "0" "c.1129G>A" "10" "p.(Ala377Thr)" "" "possiblyDamaging" "" "missense" "" "Exon" "-" "0000023569" "00002650" "99" "1066" "0" "1066" "0" "c.1066G>A" "9" "p.(Gly356Ser)" "" "possiblyDamaging" "" "missense" "" "Exon" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0