CLPB

ClpB family mitochondrial disaggregase

Summary

This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

Known Variants590 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7512810611:72,004,156G/T—likely benign
rs7945854211:72,004,238C/G—likely benign
rs7557016211:72,004,346T/C—likely benign
rs194948480611:72,004,412T/C—uncertain significance
rs213548326611:72,004,417G/A—likely benign
rs11252409711:72,004,419T/C—likely benign
rs76706213511:72,004,421T/C—likely benign
rs37209680911:72,004,424C/A—uncertain significance
rs89431938711:72,004,450C/A—likely benign
rs37453824811:72,004,451C/T—uncertain significance
rs14138330311:72,004,452G/A—likely benign
rs194948598511:72,004,455T/G—uncertain significance
rs213548345211:72,004,464T/C—uncertain significance
rs75861379911:72,004,466C/T—conflicting classifications of pathogenicity
rs14096371311:72,004,467G/A—uncertain significance
rs148388138511:72,004,469G/C—uncertain significance
rs253931277511:72,004,473T/C—uncertain significance
rs125452142011:72,004,476T/A—uncertain significance
rs75721750111:72,004,477G/A—likely benign
rs78135506611:72,004,485C/T—uncertain significance
rs20047124311:72,004,486G/C—uncertain significance
rs14477783911:72,004,487A/G—uncertain significance
rs88604112011:72,004,490A/Tmissense variantuncertain significance
rs78056325411:72,004,499C/T—uncertain significance
rs74973125011:72,004,500G/A—uncertain significance
rs130080680711:72,004,505T/C—uncertain significance
rs20166812311:72,004,508G/C—uncertain significance
rs13871733211:72,004,510G/A—likely benign
rs97400069111:72,004,514C/T—uncertain significance
rs74786917411:72,004,515G/A—uncertain significance
rs74990503911:72,004,525C/G—uncertain significance
rs76049596011:72,004,535G/C—uncertain significance
rs253931332011:72,004,536G/A—uncertain significance
rs213548365411:72,004,537C/T—likely benign
rs77639554411:72,004,543T/G—likely benign
rs76501939411:72,004,555T/C—likely benign
rs194948950311:72,004,575C/G—uncertain significance
rs14028160011:72,004,579C/T—likely benign
rs54448936511:72,004,580G/A—conflicting classifications of pathogenicity
rs75535775411:72,004,584T/C—uncertain significance
rs3540193911:72,004,585G/A—benign
rs13788264511:72,004,586C/A—uncertain significance
rs77714018311:72,004,587G/A—uncertain significance
rs75950086011:72,004,598C/Amissense variantpathogenic
rs124733235511:72,004,601C/A—uncertain significance
rs133149345711:72,004,605G/C—uncertain significance
rs253931411011:72,004,609C/A—likely benign
rs253931413011:72,004,610A/C—uncertain significance
rs76783949311:72,004,613T/A—uncertain significance
rs37593485611:72,004,620C/Tmissense variantnot provided
rs92462823211:72,004,622T/C—uncertain significance
rs76077325011:72,004,628G/A—uncertain significance
rs76660080111:72,004,642C/T—conflicting classifications of pathogenicity
rs75435126311:72,004,646A/G—uncertain significance
rs14946305311:72,004,649C/T—likely benign
rs36922788311:72,004,650G/A—uncertain significance
rs15034395911:72,004,653G/Amissense variantpathogenic
rs37212613311:72,004,662G/A—uncertain significance
rs75671599011:72,004,664C/T—likely benign
rs19138991811:72,004,665G/A—likely benign
rs68066011:72,004,714T/C—benign
rs13800063511:72,004,765G/A—likely benign
rs1279352411:72,004,835G/A—benign
rs159075214811:72,005,053C/T—likely benign
rs144639412411:72,005,058G/A—likely benign
rs74544256111:72,005,059T/C—likely benign
rs156541808711:72,005,070T/C—uncertain significance
rs144238030711:72,005,071G/A—uncertain significance
rs77997685311:72,005,074T/G—uncertain significance
rs213548482111:72,005,083G/A—uncertain significance
rs194950058111:72,005,086C/T—uncertain significance
rs74921756811:72,005,087G/A—likely benign
rs78620513811:72,005,091T/Cmissense variantpathogenic
rs213548483611:72,005,093G/C—uncertain significance
rs253931625211:72,005,101T/C—uncertain significance
rs74719865811:72,005,107C/T—uncertain significance
rs14729663011:72,005,108G/A—likely benign
rs77683511611:72,005,110C/T—likely benign
rs75962830611:72,005,111G/A—likely benign
rs76523441611:72,005,124G/C—uncertain significance
rs56278205811:72,005,131C/T—uncertain significance
rs76524556611:72,005,133C/T—uncertain significance
rs18698980611:72,005,134G/A—uncertain significance
rs14095854311:72,005,141G/A—likely benign
rs14145850811:72,005,147C/T—likely benign
rs75561397211:72,005,148G/A—uncertain significance
rs19996522011:72,005,153G/A—likely benign
rs77876175111:72,005,159C/A—uncertain significance
rs74801026211:72,005,169G/Amissense variantpathogenic
rs253931675311:72,005,171C/T—likely pathogenic
rs37427949711:72,005,173G/A—uncertain significance
rs74612282811:72,005,184G/A—likely benign
rs253931682611:72,005,187A/G—likely benign
rs14947485511:72,005,347C/T—likely benign
rs253931775011:72,005,360C/T—likely benign
rs105752447011:72,005,362C/T—likely benign
rs194950945711:72,005,363T/G—uncertain significance
rs213548563811:72,005,372C/A—uncertain significance
rs78016979611:72,005,377C/T—uncertain significance
rs194950994711:72,005,383A/T—uncertain significance

Showing 100 of 590 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.