Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q15822
308153405

ACHA2_HUMAN RecName: Full=Neuronal acetylcholine receptor subunit alpha-2; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 4 (ENFL4)
2
2
1
2
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:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


Swiss-Prot Protein: Q15822
Identical to: NP_000733
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_membpfam029326.8e-113272520

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_027641Diseasep.ILE279ASNEpilepsy, nocturnal frontal lobe, 4 (ENFL4)
dbSNPrs891398 Polymorphismp.THR125ALAN/A
dbSNPrs2472553 Polymorphismp.THR22ILEN/A
OMIM118502.0001 Diseasep.ILE279ASNEPILEPSY, NOCTURNAL FRONTAL LOBE, 4



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