Results for the protein: NP

Results for the Protein: NP_000070

4557457

1134

CHRNA1

NCBI

acetylcholine receptor subunit alpha isoform b precursor [Homo sapiens]

Known Diseases associated with this Protein:
  MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
  MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
  MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL

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Default View: Neur_chan_LBD - pfam02931 Neur_chan_memb - pfam02932	RefSeq Protein: NP_000070 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Neur_chan_memb	pfam02932	4.2e-86	238	446

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6739001	Polymorphism	p.ASP358VAL	N/A
OMIM	100690.0013	Disease	p.ARG229LEU	MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
OMIM	100690.0016	Disease	p.ARG288TRP	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM	100690.0001	Disease	p.ASN192LYS	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM	100690.0012	Disease	p.CYS393TRP	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM	100690.0004	Disease	p.GLY128SER	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM	100690.0009	Disease	p.PHE231LEU	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM	100690.0008	Disease	p.PHE208VAL	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM	100690.0005	Disease	p.SER244ILE	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM	100690.0003	Disease	p.THR229ILE	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM	100690.0007	Disease	p.VAL260ILE	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM	100690.0010	Disease	p.VAL107LEU	MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
OMIM	100690.0002	Disease	p.VAL131MET	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
OMIM	100690.0006	Disease	p.VAL224PHE	MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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