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Results for the Protein: Q8NEM0
296439305

MCPH1_HUMAN RecName: Full=Microcephalin

Known Diseases associated with this Protein:
  MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE (MCPH1)
1
12
0
0
13
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Default View:

BRCT - pfam00533
BRCT - smart00292
Microcephalin - pfam12258


Swiss-Prot Protein: Q8NEM0
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRCTsmart002921.3e-05483
Microcephalinpfam122589.5e-283225608

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_046747Polymorphismp.ALA212THRN/A
Swiss-ProtVAR_046750Polymorphismp.ARG304ILEN/A
Swiss-ProtVAR_046746Polymorphismp.ARG171SERN/A
Swiss-ProtVAR_046752Polymorphismp.ASP392GLYN/A
Swiss-ProtVAR_046751Polymorphismp.ASP314HISN/A
Swiss-ProtVAR_046748Polymorphismp.ILE264VALN/A
Swiss-ProtVAR_046754Polymorphismp.LEU602PHEN/A
Swiss-ProtVAR_046749Polymorphismp.PRO288HISN/A
Swiss-ProtVAR_046757Polymorphismp.PRO828SERN/A
Swiss-ProtVAR_046753Polymorphismp.SER580GLYN/A
Swiss-ProtVAR_046745Diseasep.THR27ARGMicrocephaly 1, primary, autosomal recessive (MCPH1)
Swiss-ProtVAR_046755Polymorphismp.THR682ASNN/A
Swiss-ProtVAR_046756Polymorphismp.VAL761ALAN/A



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