Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q7Z6J9
296452961

SEN54_HUMAN RecName: Full=tRNA-splicing endonuclease subunit Sen54; AltName: Full=SEN54 homolog; Short=HsSEN54; AltName: Full=tRNA-intron endonuclease Sen54

Known Diseases associated with this Protein:
  PONTOCEREBELLAR HYPOPLASIA 4 (PCH4)
  PONTOCEREBELLAR HYPOPLASIA TYPE 4, INCLUDED
  PONTOCEREBELLAR HYPOPLASIA, TYPE 2A
  PONTOCEREBELLAR HYPOPLASIA, TYPE 4
5
8
3
7
3
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:



Swiss-Prot Protein: Q7Z6J9
Identical to: NP_997229
   Default View:


Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054813Diseasep.ALA307SERPontocerebellar hypoplasia 4 (PCH4)
dbSNPrs8064529 Polymorphismp.ALA437VALN/A
Swiss-ProtVAR_019459Polymorphismp.GLU4ASPN/A
dbSNPrs11870627 Polymorphismp.GLY525ARGN/A
dbSNPrs8079373 Polymorphismp.HIS38GLNN/A
dbSNPrs11559205 Polymorphismp.ILE137LEUN/A
dbSNPrs9911502 Polymorphismp.LYS347ASNN/A
dbSNPrs62088470 Polymorphismp.PRO483ALAN/A
Swiss-ProtVAR_054812Diseasep.SER93PROPontocerebellar hypoplasia 4 (PCH4)
dbSNPrs79508780 Polymorphismp.VAL190METN/A
OMIM608755.0001 Diseasep.ALA307SERPONTOCEREBELLAR HYPOPLASIA, TYPE 2A||PONTOCEREBELLAR HYPOPLASIA TYPE 4, INCLUDED
OMIM608755.0003 Diseasep.GLN246TERPONTOCEREBELLAR HYPOPLASIA, TYPE 4
OMIM608755.0004 Diseasep.GLN343TERPONTOCEREBELLAR HYPOPLASIA, TYPE 4



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