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Results for the Protein: Q9UBC3
17375667

DNM3B_HUMAN RecName: Full=DNA (cytosine-5)-methyltransferase 3B; Short=Dnmt3b; AltName: Full=DNA methyltransferase HsaIIIB; Short=DNA MTase HsaIIIB; Short=M.HsaIIIB

Known Diseases associated with this Protein:
  1
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1 (ICF1)
23
1
10
1
13
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Default View:

PWWP - pfam00855
PWWP - smart00293
PWWP - cd05162
N_Pac_NP60 - cd05836
Dnmt3b_related - cd05835
SPBC215_ISWI_like - cd05840
Dcm - COG0270
Cyt_C5_DNA_methylase - cd00315
DNA_methylase - pfam00145


Swiss-Prot Protein: Q9UBC3
Identical to: NP_008823
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PWWPcd051626e-34223308
Dnmt3b_relatedcd058356.4e-50223309
N_Pac_NP60cd058364.9e-07223310
SPBC215_ISWI_likecd058400.00048223312
DcmCOG02700.00011572853
Cyt_C5_DNA_methylasecd003153.9e-06575848
PWWPpfam008551.6e-33222295
DNA_methylasepfam001450.00014575848
PWWPsmart002936.1e-26223281

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011509Diseasep.ALA766PROImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011499Diseasep.ALA603THRImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011506Diseasep.ALA585VALImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_022581Diseasep.ARG840GLNImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
dbSNPrs17123590 Polymorphismp.ARG54PRON/A
Swiss-ProtVAR_011503Diseasep.ASP817GLYImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011500Diseasep.GLY663SERImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011510Diseasep.HIS814ARGImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_022580Diseasep.LEU664PROImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_022579Diseasep.SER270PROImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011507Diseasep.VAL606ALAImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011508Diseasep.VAL699GLYImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011501Diseasep.VAL726GLYImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
Swiss-ProtVAR_011504Diseasep.VAL818METImmunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)
OMIM602900.0008 Diseasep.ALA603THRIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0012 Diseasep.ARG832GLNIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0001 Diseasep.ASP809GLYIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0011 Diseasep.GLN42TERIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0004 Diseasep.GLY655SERIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0005 Diseasep.LEU656THRIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0013 Diseasep.SER282PROIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0003 Diseasep.VAL718GLYIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0010 Diseasep.VAL726GLYIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0002 Diseasep.VAL810METIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1



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