| Type | Description |
|---|---|
| Definition | cholinergic receptor nicotinic gamma subunit |
| Date | Results | Publications |
|---|---|---|
| 2020-06-13 10:47:00 | Our study contributes to further define the phenotypic spectrum of CHRNG-related nonlethal MPS, including muscle imaging features, which may be useful in distinguishing it from other diffuse arthrogryposis entities. | 30868735 |
| 2020-05-09 10:17:00 | A homozygous nonsense CHRNG variant c.136C>T (p.R46*), predicted to produce a truncated protein that leads to acetylcholine receptor deficiency was detected in a consanguineous Pakistani family with Escobar syndrome. | 30461311 |
| 2017-09-16 11:52:00 | CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome | 27245440 |
| 2016-01-16 11:44:00 | Two siblings with Escobar syndrome caused by homozygous mutations of the CHRNG gene were identified. | 25411939 |
| 2015-10-10 10:59:00 | Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations. | 25608830 |
| Type | IDs |
|---|---|
| Synonymous | ACHRG |
| Gene |
UniProtKB-ID:
ACHG_HUMAN,
A0A6F7YAP6_HUMAN
UniprotKB:
P07510,
A0A6F7YAP6
UniParc:
UPI000022BE9E,
UPI0000E07F8B
EMBL:
X01718,
AK125362,
X01717,
X01721,
X01716,
BC111802,
X01715,
X01720,
AC092165,
X04759,
KU870925,
X01719
Ensembl:
ENSG00000196811
KO:
hsa:1146
|
| Nucleutide sequences |
EMBL-CDS:
BAG54190.1,
AAY24103.1,
CAA25861.1,
AAI11803.1,
ANC57572.1
Ensembl_TRS:
ENST00000389492,
ENST00000651502
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000374143,
ENSP00000498757
RefSeq:
NP_005190.4
|
| Others |
UniRef100:
UniRef100_P07510
UniRef90:
UniRef90_P07510
UniRef50:
UniRef50_P07510
UniGene:
Hs.248101
CCDS:
CCDS33400.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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