All variants in the PLN gene

Information The variants shown are described using the NM_002667.3 transcript reference sequence.

17 entries on 1 page. Showing entries 1 - 17.
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Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Type     
DNA change (genomic) (hg19)     
Reference     
DB-ID     
Frequency     
Variant remarks     
ClassClinical     
Owner     
./. 02 c.-42C>G - - Substitution - GenBank PLN_00008 - Otherwise, mutations in the PLN gene are not a frequent cause of cardiomyopathies in our population. - Qi Ming
./. 02 c. - - Substitution - GenBank PLN_00006 - we identified a novel variant ( - Qi Ming
./. 02 c.? - - Substitution - GenBank PLN_00001 - The mutation site is within the region that plays a critical role in expression of the PLN gene [11,13] and is close to a very conserved CCAAT element ()84 to )80), on which the nuclear protein NF-Y binds to reg- ulate the PLN promoter activity. - Qi Ming
./. 02 c.25C>T - p.Arg9Cys Substitution - GenBank PLN_00002 - These results indicate that myocellular calcium dysregulation can initiate human heart failure - Qi Ming
./. 02 c.25C>T - p.Arg9Cys Substitution - GenBank PLN_00002 - This result idicated that PLN gene mutation may not be a common cause for DCM in the Chinese population in Chengdu. - Qi Ming
./. 02 c.25C>T - p.Arg9Cys Substitution - GenBank PLN_00002 - Based on coimmunoprecipitation experiments proposed that PLNR9C binds PKA-C irreversibly, creating dead- end complexes that deplete the local reservoir of kinase. - Qi Ming
./. 02 c.25C>T - p.Arg9Cys Substitution - GenBank PLN_00002 - The sequence analysis of selected coding regions of the PLN gene did not show the presence of mutations in either the patient or the control subpopulations. - Qi Ming
./. 02 c.39_42delAAGAinsG - p.Arg14del Insertion/Deletion - GenBank PLN_00011 - chronic suppression of either basal SERCA2a activity (PLN-R14Del mutant) or the stimulatory effect of the -adrenergic signaling pathway (PLN-R9C mutant) (11) result in human cardiomyopathy and heart failure;absence of PLN inhibition by the PLN-L39stop mutant, associated with the lack of regulatory inhibition of SERCA2a and increased cardiac work, may also result in heart failure. - Qi Ming
./. 02 c.39_42delAAGAinsG - p.Arg14del Insertion/Deletion - GenBank PLN_00011 - It cannot be determined whether R13 or R14 is deleted because the codon for each is identical. The deletion of either R13 or R14 is expected to partially disrupt the stability of the pentamer structure of this 52 amino acid protein. - Qi Ming
./. 02 c.41G>T - p.Arg14Ile Substitution - GenBank PLN_00012 - - - Qi Ming
./. 02 c.46T>G - p.Ser16Ala Substitution - GenBank PLN_00004 - that phosphorylation of Thr in PLN plays an important role in positive frequency and contraction relationship in mouse cardiomyocytes. - Qi Ming
./. 02 c.49A>G - p.Thr17Ala Substitution - GenBank PLN_00005 - Phosphorylation of Thr 17 in PLN plays an important role in positive frequency and contraction relationship in mouse cardiomyocytes. - Qi Ming
./. 02 c.116T>G - p.Leu39X Substitution - GenBank PLN_00003 - These findings describe a naturallyoccurring loss-of-function human PLN mutation (PLN null). In contrast to reported benefits of PLN ablation in mouse heart failure, humans lacking PLN develop lethal dilated cardiomyopathy. - Qi Ming
./. 02 c.116T>G - p.Leu39X Substitution - GenBank PLN_00003 - This result indicated that PLN gene mutation may not be a common cause for DCM in the Chinese population in Chengdu. - Qi Ming
./. 02 c.116T>G - p.Leu39X Substitution - GenBank PLN_00003 - Mutations in PLN, such as the L39X, are rare among patients with HCM. However, despite the low yield of PLN-associated HCM genetic testing, the small size of PLN and the paucity of genetic variation in PLN among healthy subjects warrant consideration for its inclusion in clinically available HCM gene test panels. - Qi Ming
./. 02 c.116T>G - p.Leu39X Substitution - GenBank PLN_00003 - The sequence analysis of selected coding regions of the PLN gene did not show the presence of mutations in either the patient or the control subpopulations. - Qi Ming
./. 02 c.116T>G - p.Leu39X Substitution - GenBank PLN_00003 - The heterozygous carriers of the Leu39Ter mutation exhibited asymptomatic hypertrophic cardiomyopathy without diminished contractile performance. Homozygous carriers of this mutation developed a severe form of DCM resulting in heart failure requiring cardiac transplantation at a young age [10]. Additional studies have identified other mutations in PLN causing DCM [5,11,12] and mutations in the promoter region that may result in FHC [13,14]. Mutations in the PLN gene are likely to lead to a cardiomyopathic phenotype. - Qi Ming
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