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Results for the Protein: Q9HC77
62899891

CENPJ_HUMAN RecName: Full=Centromere protein J; Short=CENP-J; AltName: Full=Centrosomal P4.1-associated protein; AltName: Full=LAG-3-associated protein; AltName: Full=LYST-interacting protein 1

Known Diseases associated with this Protein:
  MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
  MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE (MCPH6)
3
7
2
5
3
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Default View:

Tcp10_C - pfam07202


Swiss-Prot Protein: Q9HC77
Identical to: NP_060921
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tcp10_Cpfam072022.5e-14011591337

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs7336216 Polymorphismp.ASP63HISN/A
Swiss-ProtVAR_032431Polymorphismp.GLU151GLYN/A
Swiss-ProtVAR_032433Diseasep.GLU1235VALMicrocephaly 6, primary, autosomal recessive (MCPH6)
dbSNPrs35498994 Polymorphismp.MET21LEUN/A
Swiss-ProtVAR_032427Polymorphismp.MET21VALN/A
dbSNPrs17081389 Polymorphismp.PRO55ALAN/A
dbSNPrs9511510 Polymorphismp.PRO85THRN/A
dbSNPrs17402892 Polymorphismp.SER879ALAN/A
OMIM609279.0002 Diseasep.GLU1235VALMICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE
OMIM609279.0005 Diseasep.THR821METMICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE



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