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Results for the Protein: P02708
113071

ACHA_HUMAN RecName: Full=Acetylcholine receptor subunit alpha; Flags: Precursor

Known Diseases associated with this Protein:
  MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
  MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (LMPS)
  MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
  MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL (FCCMS)
  MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
  MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL (SCCMS)
25
1
13
1
12
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Swiss-Prot Protein: P02708
Identical to: NP_001034612
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_043904Diseasep.ARG254LEUMultiple pterygium syndrome, lethal type (LMPS)
Swiss-ProtVAR_000284Diseasep.ASN262LYSMyasthenic syndrome, congenital, slow-channel (SCCMS)
dbSNPrs6739001 Polymorphismp.ASP383VALN/A
Swiss-ProtVAR_038601Diseasep.CYS463TRPMyasthenic syndrome, congenital, slow-channel (SCCMS)
Swiss-ProtVAR_000282Diseasep.GLY198SERMyasthenic syndrome, congenital, slow-channel (SCCMS)
Swiss-ProtVAR_021208Diseasep.PHE301LEUMyasthenic syndrome, congenital, fast-channel (FCCMS)
Swiss-ProtVAR_021206Diseasep.PHE278VALMyasthenic syndrome, congenital, fast-channel (FCCMS)
Swiss-ProtVAR_000286Diseasep.SER314ILEMyasthenic syndrome, congenital, slow-channel (SCCMS)
Swiss-ProtVAR_000285Diseasep.THR299ILEMyasthenic syndrome, congenital, slow-channel (SCCMS)
Swiss-ProtVAR_021209Diseasep.VAL330ILEMyasthenic syndrome, congenital, fast-channel (FCCMS)
Swiss-ProtVAR_038599Diseasep.VAL177LEUMyasthenic syndrome, congenital, fast-channel (FCCMS)
Swiss-ProtVAR_000283Diseasep.VAL201METMyasthenic syndrome, congenital, slow-channel (SCCMS)
Swiss-ProtVAR_021207Diseasep.VAL294PHEMyasthenic syndrome, congenital, slow-channel (SCCMS)
OMIM100690.0013 Diseasep.ARG254LEUMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
OMIM100690.0016 Diseasep.ARG313TRPMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100690.0001 Diseasep.ASN217LYSMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100690.0012 Diseasep.CYS418TRPMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100690.0004 Diseasep.GLY153SERMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100690.0009 Diseasep.PHE256LEUMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100690.0008 Diseasep.PHE233VALMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100690.0005 Diseasep.SER269ILEMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100690.0003 Diseasep.THR254ILEMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100690.0007 Diseasep.VAL285ILEMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100690.0010 Diseasep.VAL132LEUMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100690.0002 Diseasep.VAL156METMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100690.0006 Diseasep.VAL249PHEMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL



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