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Results for the Protein: P43681
1351848

ACHA4_HUMAN RecName: Full=Neuronal acetylcholine receptor subunit alpha-4; Flags: Precursor

Known Diseases associated with this Protein:
  EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (ENFL1)
  EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
4
2
2
0
4
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Default View:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


Swiss-Prot Protein: P43681
Identical to: NP_000735
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_LBDpfam029312.9e-11737243
Neur_chan_membpfam029324.3e-146250618

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023402Polymorphismp.GLU387GLYN/A
Swiss-ProtVAR_017531Diseasep.SER280LEUEpilepsy, nocturnal frontal lobe, 1 (ENFL1)
Swiss-ProtVAR_023403Polymorphismp.SER517LEUN/A
Swiss-ProtVAR_000295Diseasep.SER280PHEEpilepsy, nocturnal frontal lobe, 1 (ENFL1)
OMIM118504.0004 Diseasep.SER252LEUEPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
OMIM118504.0002 Diseasep.SER252PHEEPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1



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