Property Summary

NCBI Gene PubMed Count 108
Grant Count 22
R01 Count 12
Funding $1,813,374.38
PubMed Score 244.45
PubTator Score 273.62

Knowledge Summary

Patent (3,752)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 2.100 0.000

Gene RIF (80)

PMID Text
26510092 our study confirms the presence of the myotonia causing CLCN1 mutations p.F167L and p.R105C in the Costa Rican population.
26260254 Three novel mutations including 2 missense and one splicing were found in myotonia congenita patients.
26096614 we characterized three other myotonic ClC-1 mutations.
26021757 Our data are consistent with the idea that the CUL4A/B-DDB1-CRBN complex catalyses the polyubiquitination and thus controls the degradation of CLC-1 channels.
26007199 In 4 patients (3 families) with recessive MC, 4 CLCN1 variants were found, 3 of which are new. c.244A>G (p.T82A) and c.1357C>T (p.R453W) were compound heterozygotes with c.568GG>TC (p.G190S). The new c.809G>T (p.G270V) was homozygous.
25205014 investigated sequences of PRRT2 and CLCN1 in a proband diagnosed with paroxysmal kinesigenic dyskinesia and suspected myotonia congenita; the proband and his father harbored a PRRT2 c.649dupC mutation, and CLCN1 c.1723C>T and c.2492A>G mutations; first report showing the coexistence of PRRT2 and CLCN1 mutations
25088311 This electrophysiological and clinical observations suggest that heterozygous CLCN1 mutations can modify the clinical and electrophysiological expression of SCN4A mutation.
24625573 Six mutant forms of human CLC1 demonstrate modifications of channel gating behaviors and reduced chloride conductances that likely contribute to the physiologic changes of myotonia congenita.
24452722 splicing mutations accounted for 23 percent of all pathogenic variants in the cohort of myotonia congenita patients; 4 were heterozygous mutations in 4 unrelated individuals: c.563G>T in exon 5; c.1169-5T>G in intron 10; c.1251+1G>A in intron 11 and c.1931-2A>G in intron 16
24349310 in Czech patients with myotonia congenita(MC), 34 differentCLCN1 mutations were identified in 51 MC probands (14 new mutations); structural analysis of mutations in the homology model of the dimeric ClC-1 protein was performed; results demonstrate structure-function relationships in the ClC-1 protein which are relevant to understanding the molecular pathogenesis of MC
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AA Sequence

MEQSRSQQRGGEQSWWGSDPQYQYMPFEHCTSYGLPSENGGLQHRLRKDAGPRHNVHPTQIYGHHKEQFS      1 - 70
DREQDIGMPKKTGSSSTVDSKDEDHYSKCQDCIHRLGQVVRRKLGEDGIFLVLLGLLMALVSWSMDYVSA     71 - 140
KSLQAYKWSYAQMQPSLPLQFLVWVTFPLVLILFSALFCHLISPQAVGSGIPEMKTILRGVVLKEYLTMK    141 - 210
AFVAKVVALTAGLGSGIPVGKEGPFVHIASICAAVLSKFMSVFCGVYEQPYYYSDILTVGCAVGVGCCFG    211 - 280
TPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLKELPA    281 - 350
FAAIGICCGLLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFVIASFTFPPGMGQFMAGELMP    351 - 420
REAISTLFDNNTWVKHAGDPESLGQSAVWIHPRVNVVIIIFLFFVMKFWMSIVATTMPIPCGGFMPVFVL    421 - 490
GAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMM    491 - 560
VAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKYTIFVEDIMVRDVKFVSASYTYGELRTLLQ    561 - 630
TTTVKTLPLVDSKDSMILLGSVERSELQALLQRHLCPERRLRAAQEMARKLSELPYDGKARLAGEGLPGA    631 - 700
PPGRPESFAFVDEDEDEDLSGKSELPPSLALHPSTTAPLSPEEPNGPLPGHKQQPEAPEPAGQRPSIFQS    701 - 770
LLHCLLGRARPTKKKTTQDSTDLVDNMSPEEIEAWEQEQLSQPVCFDSCCIDQSPFQLVEQTTLHKTHTL    771 - 840
FSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRNTTSTRKSTGAPPSSAENWNLP    841 - 910
EDRPGATGTGDVIAASPETPVPSPSPEPPLSLAPGKVEGELEELELVESPGLEEELADILQGPSLRSTDE    911 - 980
EDEDELIL                                                                  981 - 988
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Text Mined References (112)

PMID Year Title
26510092 2016 Identification and Functional Characterization of CLCN1 Mutations Found in Nondystrophic Myotonia Patients.
26502825 2015 Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.
26260254 2015 Myotonia congenita: novel mutations in CLCN1 gene.
26096614 2015 ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
26021757 2015 The Cullin 4A/B-DDB1-Cereblon E3 Ubiquitin Ligase Complex Mediates the Degradation of CLC-1 Chloride Channels.
26007199 2015 Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.
25416956 2014 A proteome-scale map of the human interactome network.
25205014 2014 Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.
25088311 2014 Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
24625573 2014 Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita.
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