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Results for the Protein: Q9NSK7
374095505

CS012_HUMAN RecName: Full=Protein C19orf12

Known Diseases associated with this Protein:
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4 (NBIA4)
  NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, INCLUDED
  SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (1 FAMILY)
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4
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0
15
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Swiss-Prot Protein: Q9NSK7
Identical to: NP_001026896
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_069763Polymorphismp.ALA134PRON/A
Swiss-ProtVAR_069757Diseasep.ALA48PRONeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_069761Diseasep.ARG98SERNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_069764Polymorphismp.GLN149ARGN/A
Swiss-ProtVAR_066618Diseasep.GLY53ARGNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_066620Diseasep.GLY69ARGNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_066619Diseasep.GLY65GLUNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_069759Diseasep.GLY65VALNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_069762Diseasep.LEU121GLNNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_066621Polymorphismp.LYS142GLUN/A
Swiss-ProtVAR_066622Polymorphismp.LYS142THRN/A
Swiss-ProtVAR_069758Diseasep.PRO60LEUNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_069760Diseasep.PRO83LEUNeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_069756Diseasep.SER39PHENeurodegeneration with brain iron accumulation 4 (NBIA4)
Swiss-ProtVAR_066617Diseasep.THR11METNeurodegeneration with brain iron accumulation 4 (NBIA4)
OMIM614297.0006 Diseasep.ALA63PROSPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (1 family)||NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4, INCLUDED
OMIM614297.0003 Diseasep.GLY69ARGNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
OMIM614297.0005 Diseasep.LEU121GLNNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
OMIM614297.0004 Diseasep.LYS142GLUNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
OMIM614297.0002 Diseasep.THR11METNEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4



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