| Variant ID | 1084 |
|---|---|
| Entrez Gene ID | 189 |
| Gene | AGXT (GeneCards) |
| Location | hg19 2:241810101-241810101
hg38 2:240870684-240870684 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000002.11:g.241810101 C>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 133 |
| Amino acid changes in protein | H > Q |
| 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 | -0.609 |
| CADD Raw score (version 1.3) | 1.763921 (Deleterious) |
| FATHMM raw prediction score | 0.09887 (Tolerated) |
| SIFT score | 0.274 (Tolerated) |
| LRT score | 0.089 (Tolerated) |
| MutationTaster score | 0.925 (Tolerated) |
| MutatioinAssessor score | 1.8 (Tolerated) |
| PROVEAN score | -1.92 (Tolerated) |
| MetaSVM score | -0.644 (Tolerated) |
| MetaLR score | 0.381 (Tolerated) |
| MCAP score | 0.03 (Deleterious) |
| FitCons score | 0.497 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.15 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.176 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.02 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 5.914 |
| Deleterious probability by iFish2 | 0.4048 (Neutral) |
| Deleterious probability by DeFine | 0.9314 (Deleterious) |
| Entrez Gene ID | 189 (NCBI Gene) |
|---|---|
| Official Gene Symbol | AGXT (GeneCards) |
| Number of variants in AGXT in this database | 1 (view all the variants) |
| Full name | alanine--glyoxylate and serine--pyruvate aminotransferase |
| Band | 2q37.3 |
| Other IDs | Vega: OTTHUMG00000133354 OMIM: 604285 HGNC: HGNC:341 Ensembl: ENSG00000172482 |
| Other names | AGT, PH1, SPT, AGT1, SPAT, TLH6, AGXT1 |
| Summary | This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targetting, have been associated with type I primary hyperoxaluria. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |