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Results for the Protein: Q07001
543759

ACHD_HUMAN RecName: Full=Acetylcholine receptor subunit delta; 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)
13
1
8
0
6
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Default View:

Neur_chan_LBD - pfam02931
Neur_chan_memb - pfam02932


Swiss-Prot Protein: Q07001
Identical to: NP_000742
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Neur_chan_membpfam029321.1e-102253489

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036031Polymorphismp.ASP398GLUN/A
Swiss-ProtVAR_021212Diseasep.GLN288GLUMyasthenic syndrome, congenital, slow-channel (SCCMS)
Swiss-ProtVAR_021210Diseasep.GLU80LYSMyasthenic syndrome, congenital, fast-channel (FCCMS)
Swiss-ProtVAR_043905Diseasep.PHE95LEUMultiple pterygium syndrome, lethal type (LMPS)
Swiss-ProtVAR_021211Diseasep.PRO271GLNMyasthenic syndrome, congenital, fast-channel (FCCMS)
Swiss-ProtVAR_019566Diseasep.SER289PHEMyasthenic syndrome, congenital, slow-channel (SCCMS)
OMIM100720.0007 Diseasep.ARG443TERMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
OMIM100720.0003 Diseasep.GLU59LYSMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100720.0009 Diseasep.ILE58LYSMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100720.0008 Diseasep.LEU42PROMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100720.0006 Diseasep.PHE74LEUMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
OMIM100720.0002 Diseasep.PRO250GLNMYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM100720.0001 Diseasep.SER268PHEMYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM100720.0005 Diseasep.TRP57TERMULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE



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