| Variant ID | 359 |
|---|---|
| Entrez Gene ID | 5091 |
| Gene | PC (GeneCards) |
| Location | hg19 11:66619351-66619351
hg38 11:66851880-66851880 |
| Disease | Pyruvate carboxylase deficiency (view all the variants in this disease) |
| Method | RTPCR |
| Mutation(HGVS format) | NC_000011.9:g.66619351 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Exon number | 13 |
| Position in protein | 631 |
| Amino acid changes in protein | R > Q |
| Position in cDNA | 1892 |
| Changes in cDNA | G > A |
| mRNA accession | NM_022172.2 |
| mRNA length | 3537 |
| Reference length | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006467 |
|---|---|
| SNP ID (dbSNP ID version 137) | rs113994145 |
| Variant IDs in COSMIC (version 89) | 5035168 |
| Variant occurences in COSMIC | 1(oesophagus) |
| EIGEN score | 0.9319 |
| CADD Raw score (version 1.3) | 7.809979 (Deleterious) |
| FATHMM raw prediction score | 0.94103 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 4.05 (Deleterious) |
| PROVEAN score | -3.84 (Deleterious) |
| MetaSVM score | 1.082 (Deleterious) |
| MetaLR score | 0.969 (Deleterious) |
| MCAP score | 0.509 (Deleterious) |
| FitCons score | 0.778 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.56 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.304 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.995 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.887 |
| Deleterious probability by iFish2 | 0.9706 (Deleterious) |
| Deleterious probability by DeFine | 0.9604 (Deleterious) |
| Entrez Gene ID | 5091 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PC (GeneCards) |
| Number of variants in PC in this database | 8 (view all the variants) |
| Full name | pyruvate carboxylase |
| Band | 11q13.2 |
| Other IDs | Vega: OTTHUMG00000167099 OMIM: 608786 HGNC: HGNC:8636 Ensembl: ENSG00000173599 |
| Other names | PCB |
| Summary | This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 18676167.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 18676167 |
| Whose mosaic mutation | Male Patient |
| Phenotype | 3 |
| Disease | Pyruvate carboxylase deficiency (view all the variants in this disease) |
| OMIM ID | 266150 |
| Pubmed ID | 18676167 |
|---|---|
| Title | The Molecular Basis of Pyruvate Carboxylase Deficiency:Mosaicism correlates with prolonged survival |
| Journal | Molecular Genetics and Metabolism |
| Publication date | 2008.09 |
| Disease | Pyruvate carboxylase deficiency |
| Number of cases | Male cases: 4; |