| Entry |
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| Gene name |
CHRNE, ACHRE, CMS1D, CMS1E, CMS2A, FCCMS, SCCMS
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| Definition |
cholinergic receptor, nicotinic, epsilon (muscle)
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| Orthology |
| nicotinic acetylcholine receptor epsilon |
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| Organism |
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| Pathway |
| Neuroactive ligand-receptor interaction |
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| Disease |
| Congenital myasthenic syndrome |
|
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| Drug target |
Mecamylamine: Tubocurarine: Dimethyltubocurarine: Suxamethonium: Pancuronium: Gallamine: Vecuronium: Atracurium: Pipecuronium bromide: Doxacurium chloride: Rocuronium bromide: Mivacurium chloride: Cisatracurium: Acetylcholine: Other: |
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| Class |
Environmental Information Processing; Signaling molecules and interaction; Neuroactive ligand-receptor interaction [PATH: hsa04080]
 |
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| SSDB |
   |
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| Motif |
 |
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| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
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| Position |
17p13.2
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| AA seq |
493 aa  
MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNL
ISLNEKEETLTTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQF
GVAYDANVLVYEGGSVTWLPPAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTF
AVDNDGKTINKIDIDTEAYTENGEWAIDFCPGVIRRHHGGATDGPGETDVIYSLIIRRKP
LFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVLLAQTVFLFLIAQKIPETSLS
VPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELLPRLLGSPPPP
EAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV
RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFN
RVPDLPYAPCIQP |
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| NT seq |
1482 nt  +upstreamnt +downstreamnt
atggcaagggctccgcttggggtcctgctcctcttggggcttctcggcaggggtgtgggg
aagaacgaggaactgcgtctttatcaccatctcttcaacaactatgacccaggaagccgg
ccagtgcgggagcctgaggatactgtcaccatcagcctcaaggtcaccctgacgaatctc
atctcactgaatgaaaaagaggagactctcaccactagcgtctggattggaatcgattgg
caggattaccgactcaactacagcaaggacgactttgggggtatagaaaccctgcgagtc
ccttcagaactcgtgtggctgccagagattgtgctggaaaacaatattgatggccagttc
ggagtggcctacgacgccaacgtgctcgtctacgagggcggctccgtgacgtggctgcct
ccggccatctaccgcagcgtctgcgcagtggaggtcacctacttccccttcgattggcag
aactgttcgcttattttccgctctcagacgtacaatgccgaagaggtggagttcactttt
gccgtagacaacgacggcaagaccatcaacaagatcgacatcgacacagaggcctatact
gagaacggcgagtgggccatcgacttctgcccgggggtgatccgccgccaccacggtggc
gccaccgacggcccaggggagactgacgtcatctactcgctcatcatccgccggaagccg
ctcttctacgtcattaacatcatcgtgccctgtgtgctcatctcgggcctggtgctgctc
gcctacttcctgccggcgcaggccggcggccagaaatgcacggtctccatcaacgtcctg
ctcgcccagaccgtcttcttgttcctcattgcccagaaaatcccagagacttctctgagc
gtgccgctcctgggcaggttccttattttcgtcatggtggtcgccacgctcattgtcatg
aattgcgtcatcgtgctcaacgtgtcccagcggacgcccaccacccacgccatgtccccg
cggctgcgccacgttctcctggagctgctgccgcgcctcctgggctccccgccgccgccc
gaggccccccgggccgcctcgcccccaaggcgggcgtcgtcggtgggcttattgctccgc
gcggaggagctgatactgaaaaagccacggagcgagctcgtgtttgaggggcagaggcac
cggcaggggacctggacggctgccttctgccagagcctgggcgccgccgcccccgaggtc
cgctgctgtgtggatgccgtgaacttcgtggccgagagcacgagagatcaggaggccacc
ggcgaggaagtgtccgactgggtgcgcatggggaatgcccttgacaacatctgcttctgg
gccgctctggtgctcttcagcgtgggctccagcctcatcttcctcggggcctacttcaac
cgagtgcctgatctcccctacgcgccgtgtatccagccttag |
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