| Variant ID | 13910 |
|---|---|
| Entrez Gene ID | 9231 |
| Gene | DLG5 (GeneCards) |
| Location | hg19 10:79623305-79623305
hg38 10:77863547-77863547 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.79623305 C>T (Genome Assembly: GRCh37) |
| Exon or Intron | NA |
|---|---|
| Position in protein | NA |
| Amino acid changes in protein | NA > NA |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0.00009685 |
|---|---|
| EIGEN score | -0.0539 |
| CADD Raw score (version 1.3) | 0.386747 (Deleterious) |
| FATHMM raw prediction score | 0.12182 (Tolerated) |
| Deleterious probability by DeFine | 0.3221 (Neutral) |
| Entrez Gene ID | 9231 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DLG5 (GeneCards) |
| Number of variants in DLG5 in this database | 4 (view all the variants) |
| Full name | discs large MAGUK scaffold protein 5 |
| Band | 10q22.3 |
| Other IDs | Vega: OTTHUMG00000018548 OMIM: 604090 HGNC: HGNC:2904 Ensembl: ENSG00000151208 |
| Other names | PDLG, LP-DLG, P-DLG5 |
| Summary | This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |