Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q05516
90109930

ZBT16_HUMAN RecName: Full=Zinc finger and BTB domain-containing protein 16; AltName: Full=Promyelocytic leukemia zinc finger protein; AltName: Full=Zinc finger protein 145; AltName: Full=Zinc finger protein PLZF

Known Diseases associated with this Protein:
  SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION
  SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION (SGYMR)
2
0
1
0
1
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

BTB - pfam00651
BTB - smart00225
ZnF_C2H2 - smart00355
zf-C2H2 - pfam00096


Swiss-Prot Protein: Q05516
Identical to: NP_005997, NP_001018011
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
BTBpfam006511e-2824117
zf-C2H2pfam000960.00011461483
zf-C2H2pfam000963.7e-06518540
zf-C2H2pfam000962.9e-05546568
zf-C2H2pfam000965.2e-06574596
BTBsmart002251.6e-2235119
ZnF_C2H2smart003557.6e-05461483
ZnF_C2H2smart003550.0005490512
ZnF_C2H2smart003557.2e-07518540
ZnF_C2H2smart003555.9e-05546568
ZnF_C2H2smart003550.00031574596
ZnF_C2H2smart003550.00075602624
ZnF_C2H2smart003558.1e-05630652

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054912Diseasep.MET617VALSkeletal defects, genital hypoplasia, and mental retardation (SGYMR)
OMIM176797.0001 Diseasep.MET617VALSKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258