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Results for the Protein: P49773
1708543

HINT1_HUMAN RecName: Full=Histidine triad nucleotide-binding protein 1; AltName: Full=Adenosine 5'-monophosphoramidase; AltName: Full=Protein kinase C inhibitor 1; AltName: Full=Protein kinase C-interacting protein 1; Short=PKCI-1

Known Diseases associated with this Protein:
  NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
  NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE (NMAN)
13
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7
0
6
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DcpS_C - pfam11969


Swiss-Prot Protein: P49773
Identical to: NP_005331
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DcpS_Cpfam119691.9e-4316122

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069212Diseasep.ARG37PRONeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
Swiss-ProtVAR_069214Diseasep.CYS84ARGNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
Swiss-ProtVAR_069216Diseasep.GLY93ASPNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
Swiss-ProtVAR_069215Diseasep.GLY89VALNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
Swiss-ProtVAR_069213Diseasep.HIS51ARGNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
Swiss-ProtVAR_069217Diseasep.HIS112ASNNeuromyotonia and axonal neuropathy, autosomal recessive (NMAN)
OMIM601314.0001 Diseasep.ARG37PRONEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM601314.0002 Diseasep.CYS84ARGNEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM601314.0006 Diseasep.GLN62TERNEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM601314.0007 Diseasep.GLY93ASPNEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM601314.0003 Diseasep.GLY89VALNEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM601314.0005 Diseasep.HIS51ARGNEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE
OMIM601314.0004 Diseasep.HIS112ASNNEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE



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