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Results for the Protein: O60313
215274226

OPA1_HUMAN RecName: Full=Dynamin-like 120 kDa protein, mitochondrial; AltName: Full=Optic atrophy protein 1; Contains: RecName: Full=Dynamin-like 120 kDa protein, form S1; Flags: Precursor

Known Diseases associated with this Protein:
  ATAXIA, AND NEUROPATHY
  ATAXIA, AND NEUROPATHY, INCLUDED
  DOMINANT OPTIC ATROPHY PLUS SYNDROME (DOA+)
  OPTIC ATROPHY 1
  OPTIC ATROPHY 1 (OPA1)
  OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,
56
5
10
1
50
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Default View:

DYNc - smart00053
Dynamin_N - pfam00350


Swiss-Prot Protein: O60313
Identical to: NP_056375
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DYNcsmart000535.2e-09265515

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060825Diseasep.ALA8SEROptic atrophy 1 (OPA1)
Swiss-ProtVAR_060836Diseasep.ALA357THROptic atrophy 1 (OPA1)
Swiss-ProtVAR_022926Polymorphismp.ALA192VALN/A
Swiss-ProtVAR_060868Diseasep.ARG932CYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_011483Diseasep.ARG290GLNOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060854Diseasep.ARG590GLNOptic atrophy 1 (OPA1)
Swiss-ProtVAR_015741Diseasep.ARG445HISOptic atrophy 1 (OPA1)
Swiss-ProtVAR_022929Diseasep.ARG571HISOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060865Diseasep.ARG882LEUOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060832Diseasep.ARG290TRPOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060855Diseasep.ARG590TRPOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060861Diseasep.ARG781TRPOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060841Diseasep.ASN430ASPOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060859Diseasep.ASN728LYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060831Diseasep.ASP273ALAOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060849Polymorphismp.ASP550ASNN/A
Swiss-ProtVAR_060846Diseasep.ASP470GLYOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060842Diseasep.ASP438VALOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060851Diseasep.CYS551TYROptic atrophy 1 (OPA1)
Swiss-ProtVAR_060834Diseasep.GLN310ARGOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060862Diseasep.GLN785ARGOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060867Polymorphismp.GLU907GLYN/A
Swiss-ProtVAR_060829Diseasep.GLU270LYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060847Diseasep.GLU487LYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060860Diseasep.GLY768ASPOptic atrophy 1 (OPA1)
Swiss-ProtVAR_011484Diseasep.GLY300GLUOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060837Diseasep.ILE382METOptic atrophy 1 (OPA1)
Swiss-ProtVAR_022927Diseasep.LEU396ARGOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060838Diseasep.LEU384PHEOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060830Diseasep.LEU272PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060839Diseasep.LEU396PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060852Diseasep.LEU574PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060856Diseasep.LEU593PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060866Diseasep.LEU887PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_028370Diseasep.LEU939PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060869Diseasep.LEU949PROOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060848Diseasep.LYS505ASNOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060845Diseasep.LYS468GLUOptic atrophy 1 (OPA1)
Swiss-ProtVAR_067355Diseasep.PRO400ALAOptic atrophy 1 (OPA1)
Swiss-ProtVAR_022925Polymorphismp.PRO167LEUN/A
Swiss-ProtVAR_026533Diseasep.SER545ARGOptic atrophy 1 (OPA1)
dbSNPrs7624750 Polymorphismp.SER158ASNN/A
Swiss-ProtVAR_060857Diseasep.SER646LEUOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060863Diseasep.SER823TYROptic atrophy 1 (OPA1)
Swiss-ProtVAR_060843Diseasep.THR449ARGOptic atrophy 1 (OPA1)
Swiss-ProtVAR_022928Diseasep.THR503LYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060827Diseasep.THR95METOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060828Diseasep.TYR102CYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060853Diseasep.TYR582CYSDominant optic atrophy plus syndrome (DOA+)
Swiss-ProtVAR_060826Diseasep.TYR80CYSOptic atrophy 1 (OPA1)
Swiss-ProtVAR_060864Diseasep.TYR841CYSOptic atrophy 1 (OPA1)
OMIM605290.0005 Diseasep.ARG235GLNOPTIC ATROPHY 1
OMIM605290.0011 Diseasep.ARG390HISOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0006 Diseasep.ARG311TEROPTIC ATROPHY 1
OMIM605290.0001 Diseasep.GLY245GLUOPTIC ATROPHY 1
OMIM605290.0016 Diseasep.GLY384VALOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0018 Diseasep.ILE327METOPTIC ATROPHY 1||OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY, INCLUDED
OMIM605290.0014 Diseasep.ILE377VALOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0015 Diseasep.SER490ARGOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0013 Diseasep.TYR527CYSOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY
OMIM605290.0017 Diseasep.VAL855ASPOPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY



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