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Results for the Protein: Q96RR1
74752111

PEO1_HUMAN RecName: Full=Twinkle protein, mitochondrial; AltName: Full=Progressive external ophthalmoplegia 1 protein; AltName: Full=T7 gp4-like protein with intramitochondrial nucleoid localization; AltName: Full=T7-like mitochondrial DNA helicase; Flags: Precursor

Known Diseases associated with this Protein:
  AUTOSOMAL DOMINANT, 3
  DIGENIC
  MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (MTDPS7)
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3 (PEOA3)
  SENSORY ATAXIC NEUROPATHY DYSARTHRIA AND OPHTHALMOPARESIS (SANDO)
48
5
14
1
38
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TOPRIM_primases - cd01029
GP4d_helicase - cd01122
KaiC - pfam06745
DnaB_C - cd00984


Swiss-Prot Protein: Q96RR1
Identical to: NP_068602
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GP4d_helicasecd011224.4e-147374632
DnaB_Ccd009844.1e-05396623
KaiCpfam067450.00043396633

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_065116Diseasep.ALA475ASPProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065108Diseasep.ALA362PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065114Diseasep.ALA460PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023662Diseasep.ALA475PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065104Diseasep.ALA318THRMitochondrial DNA depletion syndrome 7 (MTDPS7)
Swiss-ProtVAR_023654Diseasep.ALA359THRProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065102Diseasep.ARG303GLNProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023651Polymorphismp.ARG334GLNN/A
Swiss-ProtVAR_023659Diseasep.ARG374GLNProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065105Diseasep.ARG334PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023653Diseasep.ARG354PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065106Diseasep.ARG357PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023647Diseasep.ARG303TRPProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_062269Polymorphismp.ASN634LYSN/A
Swiss-ProtVAR_065113Diseasep.GLN458HISProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_051267Polymorphismp.GLU427GLYN/A
Swiss-ProtVAR_065118Diseasep.GLU479LYSProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_062268Polymorphismp.GLY348ARGN/A
Swiss-ProtVAR_023655Diseasep.ILE367THRProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065107Diseasep.LEU360GLYMitochondrial DNA depletion syndrome 7 (MTDPS7)
Swiss-ProtVAR_023660Diseasep.LEU381PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_067722Diseasep.LEU456VALMitochondrial DNA depletion syndrome 7 (MTDPS7)
Swiss-ProtVAR_023649Diseasep.LYS319GLUSensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO)
Swiss-ProtVAR_023650Diseasep.LYS319THRProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065110Diseasep.PHE370CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065117Diseasep.PHE478ILEProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065111Diseasep.PHE370LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023652Diseasep.PRO335LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065112Diseasep.SER426ASNProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023657Diseasep.SER369PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023658Diseasep.SER369TYRProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_039045Diseasep.THR457ILEMitochondrial DNA depletion syndrome 7 (MTDPS7)
Swiss-ProtVAR_023661Diseasep.TRP474CYSProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_023648Diseasep.TRP315LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065109Diseasep.TRP363LEUProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065103Diseasep.TRP315SERProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_065115Diseasep.TRP474SERProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3)
Swiss-ProtVAR_043797Diseasep.TYR508CYSMitochondrial DNA depletion syndrome 7 (MTDPS7)
dbSNPrs17113613 Polymorphismp.VAL368ILEN/A
OMIM606075.0002 Diseasep.ALA475PROPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0015 Diseasep.ALA318THRMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
OMIM606075.0003 Diseasep.ALA359THRPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0013 Diseasep.ARG303GLNPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0008 Diseasep.ARG334GLNPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||DIGENIC
OMIM606075.0006 Diseasep.ARG354PROPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0014 Diseasep.ARG374TRPPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0007 Diseasep.LEU381PROPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0010 Diseasep.LYS319GLUPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0009 Diseasep.SER369TYRPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0011 Diseasep.THR457ILEMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
OMIM606075.0004 Diseasep.TRP474CYSPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0005 Diseasep.TRP315LEUPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3
OMIM606075.0012 Diseasep.TYR508CMITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)



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