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Results for the Protein: NP_787045
28559063

DNA (cytosine-5)-methyltransferase 3B isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  1
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
10
1
10
1
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

PWWP - pfam00855
PWWP - smart00293
SPBC215_ISWI_like - cd05840
N_Pac_NP60 - cd05836
Dnmt3b_related - cd05835
PWWP - cd05162


RefSeq Protein: NP_787045
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Dnmt3b_relatedcd058356.4e-50223309
N_Pac_NP60cd058364.9e-07223310
SPBC215_ISWI_likecd058400.00048223312
PWWPpfam008551.6e-33222295
PWWPsmart002936.1e-26223281

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17123590 Polymorphismp.ARG54PRON/A
OMIM602900.0008 Diseasep.ALA583THRIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0012 Diseasep.ARG749GLNIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0001 Diseasep.ASP726GLYIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0011 Diseasep.GLN42TERIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0004 Diseasep.GLY635SERIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0005 Diseasep.LEU636THRIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0013 Diseasep.SER282PROIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0003 Diseasep.VAL698GLYIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0010 Diseasep.VAL706GLYIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1
OMIM602900.0002 Diseasep.VAL727METIMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1



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