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Results for the Protein: NP_001166046
289191318

microcephalin isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
4
6
4
6
0
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Default View:

BRCT - pfam00533
BRCT - smart00292
Microcephalin - pfam12258




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BRCTsmart002921.3e-05483
Microcephalinpfam122589.5e-283177560

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2922828 Polymorphismp.ALA164THRN/A
dbSNPrs2083914 Polymorphismp.ARG256ILEN/A
dbSNPrs930557 Polymorphismp.ASP266HISN/A
dbSNPrs34121009 Polymorphismp.ILE216VALN/A
dbSNPrs35590577 Polymorphismp.PRO240HISN/A
dbSNPrs17076894 Polymorphismp.SER532GLYN/A
OMIM607117.0005 Diseasep.HIS49GLNMICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
OMIM607117.0006 Diseasep.SER72LEUMICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
OMIM607117.0007 Diseasep.SER101TERMICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE
OMIM607117.0001 Diseasep.SER25TERMICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE



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