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Results for the Protein: NP_853629
74024917

atlastin-1 isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  NEUROPATHY, HEREDITARY SENSORY, TYPE ID
  SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
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11
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Default View:

GBP - pfam02263
GBP - cd01851


RefSeq Protein: NP_853629
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GBPcd018514e-9261307
GBPpfam022631.5e-15343314

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM606439.0001 Diseasep.ARG239CYSSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0013 Diseasep.ARG416CYSSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0004 Diseasep.ARG217GLNSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0014 Diseasep.ARG415GLNSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0007 Diseasep.ARG415TRPSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0010 Diseasep.ASN355LYSNEUROPATHY, HEREDITARY SENSORY, TYPE ID
OMIM606439.0011 Diseasep.GLU66GLNNEUROPATHY, HEREDITARY SENSORY, TYPE ID
OMIM606439.0003 Diseasep.HIS258ARGSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0008 Diseasep.LEU157TRPSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0006 Diseasep.MET408VALSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
OMIM606439.0002 Diseasep.SER259TYRSPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT



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