| Variant ID | 29610 |
|---|---|
| Entrez Gene ID | 123096 |
| Gene | SLC25A29 (GeneCards) |
| Location | hg19 14:100758871-100758871
hg38 14:100292534-100292534 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.100758871 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3096 |
| CADD Raw score (version 1.3) | 5.121575 (Deleterious) |
| FATHMM raw prediction score | 0.99509 (Tolerated) |
| SIFT score | 0.027 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.845 (Tolerated) |
| PROVEAN score | -5.49 (Deleterious) |
| MetaSVM score | 0.064 (Deleterious) |
| MetaLR score | 0.515 (Deleterious) |
| MCAP score | 0.292 (Deleterious) |
| FitCons score | 0.672 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.55 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.809 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.146 |
| Deleterious probability by iFish2 | 0.0461 (Neutral) |
| Deleterious probability by DeFine | 0.973 (Deleterious) |
| Entrez Gene ID | 123096 (NCBI Gene) |
|---|---|
| Official Gene Symbol | SLC25A29 (GeneCards) |
| Number of variants in SLC25A29 in this database | 1 (view all the variants) |
| Full name | solute carrier family 25 member 29 |
| Band | 14q32.2 |
| Other IDs | Vega: OTTHUMG00000171569 OMIM: 615064 HGNC: HGNC:20116 Ensembl: ENSG00000197119 |
| Other names | CACL, ORNT3, C14orf69 |
| Summary | This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014] |
| Individual ID | 28714951.286 (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; |