Results for the protein: O43167

Results for the Protein: O43167

66774228

9841

ZBTB24

NCBI, UniProt

ZBT24_HUMAN RecName: Full=Zinc finger and BTB domain-containing protein 24; AltName: Full=Zinc finger protein 450

Known Diseases associated with this Protein:
  2
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME
  IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2 (ICF2)

6

1

5

1

1

Tips:

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Default View: BTB - pfam00651 BTB - smart00225 zf-C2H2 - pfam00096 ZnF_C2H2 - smart00355	Swiss-Prot Protein: O43167 Identical to: NP_055612 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
zf-C2H2	pfam00096	0.00039	294	316
zf-C2H2	pfam00096	3.3e-06	322	344
zf-C2H2	pfam00096	0.00074	350	372
zf-C2H2	pfam00096	5.6e-06	378	400
zf-C2H2	pfam00096	1e-07	434	456
zf-C2H2	pfam00096	0.00015	462	484
zf-C2H2	pfam00096	4.4e-06	490	512
BTB	smart00225	1.3e-25	38	126
ZnF_C2H2	smart00355	2.2e-05	322	344
ZnF_C2H2	smart00355	0.00012	350	372
ZnF_C2H2	smart00355	3.4e-05	378	400
ZnF_C2H2	smart00355	1.1e-06	434	456
ZnF_C2H2	smart00355	0.00046	462	484
ZnF_C2H2	smart00355	3.7e-05	490	512

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2232448	Polymorphism	p.ALA518THR	N/A
Swiss-Prot	VAR_065846	Disease	p.CYS408GLY	Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ICF2)
OMIM	614064.0001	Disease	p.ARG320TER	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME\|\|2
OMIM	614064.0005	Disease	p.ARG457TER	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME\|\|2
OMIM	614064.0004	Disease	p.CYS408GLY	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME\|\|2
OMIM	614064.0002	Disease	p.SER16TER	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME\|\|2
OMIM	614064.0003	Disease	p.SER278TER	IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME\|\|2

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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