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Results for the Protein: NP_570849
224831251

dynamin-like 120 kDa protein, mitochondrial isoform 7 [Homo sapiens]

Known Diseases associated with this Protein:
  ATAXIA, AND NEUROPATHY
  ATAXIA, AND NEUROPATHY, INCLUDED
  OPTIC ATROPHY 1
  OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,
10
1
10
1
0
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Default View:

DYNc - smart00053
Dynamin_N - pfam00350


RefSeq Protein: NP_570849
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DYNcsmart000535.2e-09302552

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7624750 Polymorphismp.SER158ASNN/A
OMIM605290.0005 Diseasep.ARG272GLNOPTIC ATROPHY 1
OMIM605290.0011 Diseasep.ARG427HISOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0006 Diseasep.ARG348TEROPTIC ATROPHY 1
OMIM605290.0001 Diseasep.GLY282GLUOPTIC ATROPHY 1
OMIM605290.0016 Diseasep.GLY421VALOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0018 Diseasep.ILE364METOPTIC ATROPHY 1||OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY, INCLUDED
OMIM605290.0014 Diseasep.ILE414VALOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0015 Diseasep.SER527ARGOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0013 Diseasep.TYR564CYSOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0017 Diseasep.VAL892ASPOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY



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