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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:
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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_LBDpfam029311.4e-12259265
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



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