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Results for the Protein: Q8WXF7
37999727

ATLA1_HUMAN RecName: Full=Atlastin-1; AltName: Full=Brain-specific GTP-binding protein; AltName: Full=GTP-binding protein 3; Short=GBP-3; Short=hGBP3; AltName: Full=Guanine nucleotide-binding protein 3; AltName: Full=Spastic paraplegia 3 protein A

Known Diseases associated with this Protein:
  NEUROPATHY, HEREDITARY SENSORY, 1D (HSN1D)
  NEUROPATHY, HEREDITARY SENSORY, TYPE ID
  SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
  SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT (SPG3)
27
3
11
0
19
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GBP - cd01851


Swiss-Prot Protein: Q8WXF7
Identical to: NP_056999
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GBPcd018514e-9261307

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019446Diseasep.ALA161PROSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_017147Diseasep.ARG239CYSSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_017146Diseasep.ARG217GLNSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_065512Diseasep.ARG415TRPSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_067660Diseasep.ARG495TRPSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_065510Diseasep.ASN355LYSNeuropathy, hereditary sensory, 1D (HSN1D)
Swiss-ProtVAR_067659Diseasep.ASN440THRSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_058963Polymorphismp.ASP43GLUN/A
Swiss-ProtVAR_067655Diseasep.GLN154GLUSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_065508Diseasep.GLU66GLNNeuropathy, hereditary sensory, 1D (HSN1D)
Swiss-ProtVAR_017148Diseasep.HIS258ARGSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_019447Diseasep.HIS247PROSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_065509Diseasep.LEU157TRPSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_065511Diseasep.MET408VALSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_058964Polymorphismp.PHE193CYSN/A
Swiss-ProtVAR_067658Diseasep.PHE413VALSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_017149Diseasep.SER259TYRSpastic paraplegia 3, autosomal dominant (SPG3)
Swiss-ProtVAR_067656Polymorphismp.TYR196CYSN/A
Swiss-ProtVAR_067657Diseasep.VAL253ILESpastic paraplegia 3, autosomal dominant (SPG3)
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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