| Variant ID | 29507 |
|---|---|
| Entrez Gene ID | 8985 |
| Gene | PLOD3 (GeneCards) |
| Location | hg19 7:100850973-100850973
hg38 7:101207692-101207692 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000007.13:g.100850973 C>T (Genome Assembly: hg19) |
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9805 |
| CADD Raw score (version 1.3) | 1.723289 (Deleterious) |
| FATHMM raw prediction score | 0.89544 (Tolerated) |
| Deleterious probability by DeFine | 0.8642 (Deleterious) |
| Entrez Gene ID | 8985 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PLOD3 (GeneCards) |
| Number of variants in PLOD3 in this database | 3 (view all the variants) |
| Full name | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000157111 OMIM: 603066 HGNC: HGNC:9083 Ensembl: ENSG00000106397 |
| Other names | LH3 |
| Summary | The protein encoded by this gene is a membrane-bound homodimeric enzyme that is localized to the cisternae of the rough endoplasmic reticulum. The enzyme (cofactors iron and ascorbate) catalyzes the hydroxylation of lysyl residues in collagen-like peptides. The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks. Some patients with Ehlers-Danlos syndrome type VIB have deficiencies in lysyl hydroxylase activity. [provided by RefSeq, Jul 2008] |
| Individual ID | 28714951.183 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |