| Variant ID | 29161 |
|---|---|
| Entrez Gene ID | 5096 |
| Gene | PCCB (GeneCards) |
| Location | hg19 3:136016845-136016845
hg38 3:136298003-136298003 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000003.11:g.136016845 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 | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0.0009 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs150555106 |
| EIGEN score | 0.9728 |
| CADD Raw score (version 1.3) | 7.940853 (Deleterious) |
| FATHMM raw prediction score | 0.98958 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.205 (Deleterious) |
| PROVEAN score | -3.98 (Deleterious) |
| MetaSVM score | 1.1 (Deleterious) |
| MetaLR score | 0.966 (Deleterious) |
| MCAP score | 0.453 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.24 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.483 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.467 |
| Deleterious probability by iFish2 | 0.9793 (Deleterious) |
| Deleterious probability by DeFine | 0.9767 (Deleterious) |
| Entrez Gene ID | 5096 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PCCB (GeneCards) |
| Number of variants in PCCB in this database | 1 (view all the variants) |
| Full name | propionyl-CoA carboxylase subunit beta |
| Band | 3q22.3 |
| Other IDs | Vega: OTTHUMG00000159792 OMIM: 232050 HGNC: HGNC:8654 Ensembl: ENSG00000114054 |
| Other names | None |
| Summary | The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010] |
| Individual ID | 28503910.38 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Normal |
| Phenotype | 2 |
| 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; |