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Results for the Protein: P12235
113455
291

ADT1_HUMAN RecName: Full=ADP/ATP translocase 1; AltName: Full=ADP,ATP carrier protein 1; AltName: Full=ADP,ATP carrier protein, heart/skeletal muscle isoform T1; AltName: Full=Adenine nucleotide translocator 1; Short=ANT 1; AltName: Full=Solute carrier family 25 member 4

Known Diseases associated with this Protein:
  AUTOSOMAL DOMINANT, 2
  MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,
  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2 (PEOA2)
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Mito_carr - pfam00153


Swiss-Prot Protein: P12235
Identical to: NP_001142
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Mito_carrpfam001536.9e-394103
Mito_carrpfam001536.5e-32109206
Mito_carrpfam001533.1e-18210298

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_038815Polymorphismp.ALA123ASPN/A
Swiss-ProtVAR_038814Diseasep.ALA90ASPProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
Swiss-ProtVAR_012111Diseasep.ALA114PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
Swiss-ProtVAR_022460Diseasep.ASP104GLYProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
Swiss-ProtVAR_022459Diseasep.LEU98PROProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
Swiss-ProtVAR_012112Diseasep.VAL289METProgressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2 (PEOA2)
OMIM103220.0005 Diseasep.ALA123ASPMITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE)
OMIM103220.0001 Diseasep.ALA114PROPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 2
OMIM103220.0004 Diseasep.ASP104GLYPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 2
OMIM103220.0003 Diseasep.LEU98PROPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 2
OMIM103220.0002 Diseasep.VAL289METPROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 2



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