| Type | Description |
|---|---|
| Definition | cholinergic receptor nicotinic epsilon subunit |
| Date | Results | Publications |
|---|---|---|
| 2019-11-02 12:02:00 | Study identified 2 potentially novel homozygous mutations in the AChR epsilon-subunit, epsilonR218W at a position equivalent to alphaR209, and E184K at a position equivalent to alphaE175, in 3 unrelated congenital myasthenic patients. | 29367459 |
| 2019-04-20 11:49:00 | This study report a family with progressive proximal and distal weakness in which an accurate electrophysiological and CHRNE mutation led to a final diagnosis of congenital myasthenic syndromes. | 30542963 |
| 2018-08-25 11:21:00 | Study found a pretest probability of CHRNE c.130dupG mutation of 31.9% in at least one allele of CMS patients, and when considering only homozygous patients the percentage is still high (26.4%); percentages notably increase ifonly patients with impaired eye movement and improvement of symptoms with pyridostigmine are considered. | 29383513 |
| 2018-02-17 10:32:00 | Specific mutations in COLQ, RAPSN, and CHRNE occur in specific ethnic populations in Israel and should be taken into account when the diagnosis of congenital myasthenic syndrome is suspected.. | 28024842 |
| 2017-11-11 13:41:00 | Study traced the cause of congenital myasthenia syndrome in unrelated patients with dominant missense mutations in the M2 domain of AChR. A valine residue is replaced by a smaller alanine either in the epsilon subunit or an equivalent position in the beta one. Also, each valine in the valine ring was found to contribute to channel kinetics equally, and the valine ring has bee optimized during evolution to govern channe... | 27375219 |
| Type | IDs |
|---|---|
| Synonymous | ACHRE, CMS1D, CMS1E, CMS2A, CMS4A, CMS4B, CMS4C, FCCMS, SCCMS |
| Gene |
UniProtKB-ID:
ACHE_HUMAN
UniprotKB:
Q04844
UniParc:
UPI0000125262
EMBL:
X66403,
CH471108,
AF105999
Ensembl:
ENSG00000108556
KO:
hsa:1145
|
| Nucleutide sequences |
EMBL-CDS:
EAW90395.1,
CAA47030.1,
AAD24503.1,
EAW90396.1
Ensembl_TRS:
ENST00000649488
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000497829
RefSeq:
XP_016879604.1,
NP_000071.1
|
| Others |
UniRef100:
UniRef100_Q04844
UniRef90:
UniRef90_Q04844
UniRef50:
UniRef50_Q04844
UniGene:
Hs.654535
CCDS:
CCDS11058.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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