Overview

Variant ID 356
Entrez Gene ID 5091
Gene PC (GeneCards)
Location hg19 11:66617869-66617869
hg38 11:66850398-66850398
Disease Pyruvate carboxylase deficiency (view all the variants in this disease)
Method RTPCR
Mutation(HGVS format) NC_000011.9:g.66617869 G>A (Genome Assembly: hg19)

Other information

Exon or Intron Exon
Position in protein 847
Amino acid changes in protein A > V
Position in cDNA 2540
Changes in cDNA C > T
mRNA accession NM_022172.2
mRNA length 3537
Reference length 135006516

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
SNP ID (dbSNP ID version 137) rs113994147
EIGEN score 0.3892
CADD Raw score (version 1.3) 3.286397 (Deleterious)
FATHMM raw prediction score 0.97133 (Tolerated)
SIFT score 0.009 (Deleterious)
LRT score 0 (Deleterious)
MutationTaster score 1 (Deleterious)
MutatioinAssessor score 2.685 (Deleterious)
PROVEAN score -1.06 (Tolerated)
MetaSVM score 0.815 (Deleterious)
MetaLR score 0.855 (Deleterious)
MCAP score 0.159 (Deleterious)
FitCons score 0.635 (Highly Significant p < 0.003 )
Genomic Evolutionary Rate Profiling (GERP) score 4.81
PhyloP score based on multiple alignment of 100 vertebrates 9.246
PhastCons score based on multiple alignment of 100 vertebrates 1
SiPhy log transformed odds ratio on multiple alignment of 29 mammals 15.414
Deleterious probability by iFish2 0.9535 (Deleterious)
Deleterious probability by DeFine 0.9728 (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 #1

Individual ID 18676167.04 (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

Publication #1: 18676167

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;