Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q99217
1168430
265

AMELX_HUMAN RecName: Full=Amelogenin, X isoform; Flags: Precursor

Known Diseases associated with this Protein:
  AMELOGENESIS IMPERFECTA 1E (AI1E)
  AMELOGENESIS IMPERFECTA, TYPE 1E
8
0
5
0
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:

Amelogenin - smart00818


Swiss-Prot Protein: Q99217
Identical to: NP_001133
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Amelogeninsmart008181.7e-10228191

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_037583Diseasep.PRO56THRAmelogenesis imperfecta 1E (AI1E)
Swiss-ProtVAR_037582Diseasep.THR37ILEAmelogenesis imperfecta 1E (AI1E)
Swiss-ProtVAR_037581Diseasep.TRP4SERAmelogenesis imperfecta 1E (AI1E)
OMIM300391.0006 Diseasep.GLU177TERAMELOGENESIS IMPERFECTA, TYPE 1E
OMIM300391.0010 Diseasep.MET1THRAMELOGENESIS IMPERFECTA, TYPE 1E
OMIM300391.0007 Diseasep.PRO56THRAMELOGENESIS IMPERFECTA, TYPE 1E
OMIM300391.0005 Diseasep.THR37ILEAMELOGENESIS IMPERFECTA, TYPE 1E
OMIM300391.0011 Diseasep.TRP4SERAMELOGENESIS IMPERFECTA, TYPE 1E



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