Home News About DMDM Database Statistics Research Publications Contact  

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)
16
4
5
0
15
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:



Swiss-Prot Protein: Q9NSK7
Identical to: NP_001026896
   Default View:


Domains found on the Protein

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

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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258