| http://purl.uniprot.org/citations/37277924 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37277924 | http://www.w3.org/2000/01/rdf-schema#comment | "AimsThis study aimed to identify a novel splicing-altering LAMP2 variant associated with Danon disease.Methods and resultsTo identify the potential genetic mutation in a Chinese pedigree, whole-exome sequencing was conducted in the proband, and Sanger sequencing was performed on the proband's parents. To verify the impact of the splice-site variant, a minigene splicing assay was applied. The AlphaFold2 analysis was used to analyse the mutant protein structure. A splice-site variant (NM_013995.2:c.864+5G>A) located at intron 6 of the LAMP2 gene was identified as a potential pathogenic variant. The minigene splicing revealed that this variant causes exon 6 to be skipped, resulting in a truncated protein. The AlphaFold2 analysis showed that the mutation caused a protein twist direction change, leading to conformational abnormality.ConclusionsA novel splice-site variant (NM_013995.2:c.864+5G>A) located at intron 6 of the LAMP2 gene was identified. This discovery may enlarge the LAMP2 variant spectrum, promote accurate genetic counselling, and contribute to the diagnosis of Danon disease."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.org/dc/terms/identifier | "doi:10.1002/ehf2.14417"xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/author | "Luo Y."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/author | "Wang S."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/author | "Wu S."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/author | "Fu D."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/author | "Peng D."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/name | "ESC Heart Fail"xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/pages | "2479-2486"xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/title | "Identification of a novel splicing-altering LAMP2 variant in a Chinese family with Danon disease."xsd:string |
| http://purl.uniprot.org/citations/37277924 | http://purl.uniprot.org/core/volume | "10"xsd:string |
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