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Results for the Protein: NP_001157284
255304946

twinkle protein, mitochondrial isoform B [Homo sapiens]

Known Diseases associated with this Protein:
  AUTOSOMAL DOMINANT, 3
  DIGENIC
  MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
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Default View:

TOPRIM_primases - cd01029
GP4d_helicase - cd01122




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GP4d_helicasecd011228.7e-94374581

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
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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