| Variant ID | 29166 |
|---|---|
| Entrez Gene ID | 29926 |
| Gene | GMPPA (GeneCards) |
| Location | hg19 2:220367114-220367114
hg38 2:219502392-219502392 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000002.11:g.220367114 C>T (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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003236 |
|---|---|
| EIGEN score | 0.0813 |
| CADD Raw score (version 1.3) | 6.087249 (Deleterious) |
| FATHMM raw prediction score | 0.44606 (Tolerated) |
| SIFT score | 0.013 (Deleterious) |
| LRT score | 0.039 (Tolerated) |
| MutationTaster score | 0.974 (Tolerated) |
| MutatioinAssessor score | 1.65 (Tolerated) |
| PROVEAN score | -0.91 (Tolerated) |
| MetaSVM score | -0.55 (Tolerated) |
| MetaLR score | 0.371 (Tolerated) |
| MCAP score | 0.124 (Deleterious) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 3.55 |
| PhyloP score based on multiple alignment of 100 vertebrates | 0.836 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.308 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 11.88 |
| Deleterious probability by iFish2 | 0.2941 (Neutral) |
| Deleterious probability by DeFine | 0.8843 (Deleterious) |
| Entrez Gene ID | 29926 (NCBI Gene) |
|---|---|
| Official Gene Symbol | GMPPA (GeneCards) |
| Number of variants in GMPPA in this database | 1 (view all the variants) |
| Full name | GDP-mannose pyrophosphorylase A |
| Band | 2q35 |
| Other IDs | Vega: OTTHUMG00000058922 OMIM: 615495 HGNC: HGNC:22923 Ensembl: ENSG00000144591 |
| Other names | AAMR |
| Summary | This gene is thought to encode a GDP-mannose pyrophosphorylase. This enzyme catalyzes the reaction which converts mannose-1-phosphate and GTP to GDP-mannose which is involved in the production of N-linked oligosaccharides. [provided by RefSeq, Jul 2008] |
| Individual ID | 28503910.43 (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; |