Gene ID (NCBI) 7273 Conjugate CoraLite® Plus 488 Fluorescent Dye Excitation/Emission Maxima Wavelengths 493 nm / 522 nm Form Liquid Purification Method Antigen affinity purification UNIPROT ID Q8WZ42 Storage Buffer PBS with 50% Glycerol, 0.05% Proclin300, 0.5% BSA, pH 7.3. Storage Conditions...
Gene Symbol Titin Gene ID (NCBI) 7273 RRID AB_2880998 Conjugate Unconjugated Form Liquid Purification Method Antigen affinity purification UNIPROT ID Q8WZ42 Storage Buffer PBS with 0.02% sodium azide and 50% glycerol pH 7.3. Storage Conditions Store at -20°C. Stable for one year after shipmen...
That is not titin’s only achievement, though - it also holds the record for the largest number ofexonsfound in any single gene. Exons are involved in the splicing of genes. Splicing is important as it means that, when the information in the gene is converted into protein, it can be ma...
In addition to mutations inMYH2,MYH3,MYH7,MYH8,MYBPC3,TNNI2,TNNT1,TNNT3,TPM2,TPM3, ACTA1, andNEB, a series of different mutations of the gene encoding the giant proteintitin(TTN) have been reported in the past 15 years(65).Titinis not considered a thick or thin filament protein an...
novelTTNmutations responsible for the MD diseases, as well as cardiomyopathies, despite the huge size of its coding gene. In contrast, a large number of missense and truncation variants ofTTNhave also been reported in the general population [6]. Thus, the clinical interpretation ofTTNvariants ...
Entrez Gene:7273 Swiss Prot:Q8WZ42 Source:KLH conjugated synthetic peptide derived from human Titin/CMD1G:2601-2800/34350 Purification:affinity purified by Protein A Storage:0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Shipped at 4℃. Store at -20 °C for one year....
Further attempts at finding HMERF-causing TTN mutations were hampered by the enormous size of this gene. Next generation sequencing opened up opportunities for new discoveries. Using this technology, the p.Cys30071Arg TTN mutation was recently identified as the cause of HMERF in North European ...
Genome-wide association studies (GWAS) have identified 97 common AF susceptibility loci5,6and candidate gene studies have implicated rare genetic variants in a number of genes7, primarily encoding cardiac ion channels. Recent GWAS have associated AF with genetic loci located in the proximity of gene...
Titin gene, protein size, and isoform composition in myocardium The specialized mechanosensory functions of titin discussed below are based on a unique protein structure. Mammals have a single titin gene from which many (potentially millions of [25]) isoforms are generated by alternative splicing [40...
Full size image Abnormal titin expression in patients withSRPK3/TTNmyopathy Based on the available genetic data, no evident copy number variants (CNVs) or variants in the triplicated region of theTTNgene were found intranswith the heterozygousTTNvariant. However, to further exclude compound heterozyg...