| Variant ID | 29734 |
|---|---|
| Entrez Gene ID | 1285 |
| Gene | COL4A3 (GeneCards) |
| Location | hg19 2:228120751-228120751
hg38 2:227256035-227256035 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000002.11:g.228120751 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8749 |
| CADD Raw score (version 1.3) | 6.142108 (Deleterious) |
| FATHMM raw prediction score | 0.96823 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.645 (Deleterious) |
| PROVEAN score | -7.54 (Deleterious) |
| MetaSVM score | 1.025 (Deleterious) |
| MetaLR score | 0.987 (Deleterious) |
| MCAP score | 0.908 (Deleterious) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.665 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 15.551 |
| Deleterious probability by iFish2 | 0.9964 (Deleterious) |
| Deleterious probability by DeFine | 0.9306 (Deleterious) |
| Entrez Gene ID | 1285 (NCBI Gene) |
|---|---|
| Official Gene Symbol | COL4A3 (GeneCards) |
| Number of variants in COL4A3 in this database | 1 (view all the variants) |
| Full name | collagen type IV alpha 3 chain |
| Band | 2q36.3 |
| Other IDs | Vega: OTTHUMG00000149891 OMIM: 120070 HGNC: HGNC:2204 Ensembl: ENSG00000169031 |
| Other names | None |
| Summary | Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3 alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jun 2010] |
| Individual ID | 28867142.27 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |