| Variant ID | 29200 |
|---|---|
| Entrez Gene ID | 4035 |
| Gene | LRP1 (GeneCards) |
| Location | hg19 12:57605019-57605019
hg38 12:57211236-57211236 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000012.11:g.57605019 G>A (Genome Assembly: GRCh37) |
| 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2202 |
| CADD Raw score (version 1.3) | 2.499377 (Deleterious) |
| FATHMM raw prediction score | 0.47129 (Tolerated) |
| SIFT score | 0.563 (Tolerated) |
| LRT score | 0.047 (Tolerated) |
| MutationTaster score | 0.978 (Tolerated) |
| MutatioinAssessor score | 0.625 (Tolerated) |
| PROVEAN score | -0.58 (Tolerated) |
| MetaSVM score | -0.834 (Tolerated) |
| MetaLR score | 0.009 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.632 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.29 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.457 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.426 |
| Deleterious probability by iFish2 | 0.2656 (Neutral) |
| Deleterious probability by DeFine | 0.9053 (Deleterious) |
| Entrez Gene ID | 4035 (NCBI Gene) |
|---|---|
| Official Gene Symbol | LRP1 (GeneCards) |
| Number of variants in LRP1 in this database | 1 (view all the variants) |
| Full name | LDL receptor related protein 1 |
| Band | 12q13.3 |
| Other IDs | Vega: OTTHUMG00000044412 OMIM: 107770 HGNC: HGNC:6692 Ensembl: ENSG00000123384 |
| Other names | APR, KPA, LRP, A2MR, CD91, APOER, LRP1A, TGFBR5, IGFBP3R, IGFBP-3R, IGFBP3R1 |
| Summary | This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015] |
| Individual ID | 28503910.77 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |