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Results for the Protein: P17787
113105

ACHB2_HUMAN RecName: Full=Neuronal acetylcholine receptor subunit beta-2; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 3
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 (ENFL3)
4
2
2
1
3
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Default View:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


Swiss-Prot Protein: P17787
Identical to: NP_000739
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_LBDpfam029311.2e-11029234
Neur_chan_membpfam029324.2e-111241478

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_021564Polymorphismp.GLN397HISN/A
dbSNPrs200729328 Polymorphismp.VAL33GLYN/A
Swiss-ProtVAR_012714Diseasep.VAL287LEUEpilepsy, nocturnal frontal lobe, 3 (ENFL3)
Swiss-ProtVAR_012715Diseasep.VAL287METEpilepsy, nocturnal frontal lobe, 3 (ENFL3)
OMIM118507.0001 Diseasep.VAL287LEUEPILEPSY, NOCTURNAL FRONTAL LOBE, 3
OMIM118507.0002 Diseasep.VAL287METEPILEPSY, NOCTURNAL FRONTAL LOBE, 3



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