LONP1

lon peptidase 1, mitochondrial

Summary

This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

Known Variants777 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1155101919:5,691,933A/G—likely benign
rs205483270719:5,692,044C/T—likely benign
rs15078203619:5,692,046C/G—likely benign
rs102032545719:5,692,048G/A—likely benign
rs77187177019:5,692,054C/T—likely benign
rs77507433819:5,692,055G/A—likely benign
rs76357052719:5,692,061C/G—likely benign
rs205483325219:5,692,063C/A—uncertain significance
rs13975929519:5,692,068G/A—conflicting classifications of pathogenicity
rs37043450819:5,692,070C/G—conflicting classifications of pathogenicity
rs20055127719:5,692,073C/A—conflicting classifications of pathogenicity
rs20077414919:5,692,076G/C—uncertain significance
rs133283181119:5,692,079C/T—likely benign
rs78119199119:5,692,080G/C—uncertain significance
rs135158788119:5,692,081G/A—uncertain significance
rs251237841019:5,692,085G/T—likely benign
rs14206882519:5,692,087C/T—conflicting classifications of pathogenicity
rs75718907619:5,692,088G/C—uncertain significance
rs13863190919:5,692,093C/G—uncertain significance
rs145831782419:5,692,101T/C—uncertain significance
rs55812541619:5,692,104C/T—conflicting classifications of pathogenicity
rs159943959519:5,692,108A/G—likely pathogenic
rs76678322719:5,692,111G/A—conflicting classifications of pathogenicity
rs131354854219:5,692,114C/G—uncertain significance
rs36778080419:5,692,117C/T—uncertain significance
rs205483505619:5,692,126C/T—uncertain significance
rs75274272619:5,692,132G/A—likely benign
rs77900798019:5,692,136C/T—likely benign
rs37739474519:5,692,137T/C—uncertain significance
rs124862575819:5,692,143A/G—uncertain significance
rs6115981419:5,692,144T/C—likely benign
rs147936939819:5,692,156G/A—likely benign
rs13947643019:5,692,159C/T—uncertain significance
rs20186070219:5,692,160G/A—likely benign
rs89058735919:5,692,161T/C—uncertain significance
rs251237869019:5,692,162A/G—uncertain significance
rs14420652619:5,692,166G/A—likely benign
rs251237871419:5,692,167T/G—uncertain significance
rs77125094119:5,692,170T/G—uncertain significance
rs74640442719:5,692,180C/G—uncertain significance
rs37675158519:5,692,181G/A—likely benign
rs128951674619:5,692,182G/T—likely benign
rs251237884919:5,692,185G/A—uncertain significance
rs106237319:5,692,192C/T—likely benign
rs75134402219:5,692,193G/A—likely benign
rs6173743619:5,692,195T/C—uncertain significance
rs143607205119:5,692,197C/T—likely benign
rs78072529019:5,692,199C/A—likely benign
rs138260198119:5,692,200G/A—conflicting classifications of pathogenicity
rs251237896019:5,692,202C/T—likely benign
rs76928583819:5,692,206C/T—uncertain significance
rs77588235519:5,692,207C/A—uncertain significance
rs37738829119:5,692,210C/T—conflicting classifications of pathogenicity
rs37095791619:5,692,211G/A—likely benign
rs11280792019:5,692,212C/T—conflicting classifications of pathogenicity
rs171617038519:5,692,217G/A—likely benign
rs129413518819:5,692,219C/T—uncertain significance
rs77557083519:5,692,222G/A—uncertain significance
rs20056001319:5,692,223G/T—benign
rs76424816619:5,692,228A/G—likely benign
rs36766863119:5,692,229G/A—likely benign
rs120330850019:5,692,230A/T—uncertain significance
rs37133637019:5,692,233C/G—likely benign
rs214557365219:5,692,237G/T—likely benign
rs381881519:5,692,311G/C—benign
rs11169448219:5,692,378C/T—likely benign
rs1042148419:5,693,023T/C—benign
rs11788700019:5,693,099G/A—likely benign
rs7821944719:5,693,217G/C—likely benign
rs76200223519:5,693,289G/C—likely benign
rs37222994519:5,693,292G/C—likely benign
rs36816529919:5,693,305T/C—uncertain significance
rs52736689819:5,693,309C/T—uncertain significance
rs56287808219:5,693,310G/A—uncertain significance
rs119261059719:5,693,338C/T—uncertain significance
rs103244811819:5,693,341G/A—uncertain significance
rs56747535919:5,693,355G/A—likely benign
rs11325137819:5,693,369G/A—likely benign
rs251238257119:5,693,370C/G—uncertain significance
rs18161925119:5,693,383G/A—likely benign
rs205486567119:5,693,385T/C—uncertain significance
rs75934078619:5,693,391C/T—uncertain significance
rs96565815619:5,693,393G/C—likely benign
rs127164403919:5,693,398G/A—uncertain significance
rs76393440119:5,693,406A/G—likely benign
rs214557651519:5,693,408G/A—likely benign
rs15130828519:5,693,414G/A—likely benign
rs74998278619:5,693,422G/A—likely benign
rs122132410219:5,693,425C/A—uncertain significance
rs14177459019:5,693,426C/T—likely benign
rs37548651319:5,693,431C/T—conflicting classifications of pathogenicity
rs75539430419:5,693,446C/T—uncertain significance
rs14694842619:5,693,447G/A—likely benign
rs126959055619:5,693,456G/A—likely benign
rs214557665219:5,693,459C/T—likely benign
rs77007439419:5,693,462G/C—likely benign
rs251238287219:5,693,463G/C—uncertain significance
rs14759143119:5,693,470C/T—conflicting classifications of pathogenicity
rs37620874619:5,693,485T/C—likely benign
rs76841882419:5,693,486G/A—likely benign

Showing 100 of 777 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.