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Table 2 Gene mutations in the proband with HLCS deficiency

From: Clinical, biochemical, and genetic analysis of a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report

Gene HLCSA HLCSA BTDB
Exon 9 6 4
Nucleotide change c.1522C > T c.1006_1007delGA c.638_642delACAAC
Amino acid change p.Arg508Trp p.Glu336Thrfs*15 p.His213Profs*4
Parental origin Maternal Paternal Paternal
Type of change Het Het Het
PROVEAN/MutationTaster prediction (score) Deleterious(−6.559)/ Disease causing(0.99) Deleterious(−4.224)/
Disease causing(1.0)
Deleterious(−3.927)/
Disease causing(1.0)
ExAC MAF (Allele Count) 0.00003302
(4/121122)
NA NA
Comment Pathogenic Novel Novel
References Dupuis (1996) Hum Mol Genet 5, 1011 [13] This study This study
  1. Abbreviations: NA not available, Het heterozygous, NCBI RefSeq: A, NM_000411.6; B, NM_000060.2