Description:
GALACTOSEMIA
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Relation to Proband
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proband
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Confirmation
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Molecular characterization before cell line submission to CCR
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 1 |
606999.0006; GALACTOSEMIA |
| Identified Mutation |
GLN188ARG; Reichardt et al. [Am J Hum Genet 49: 860 (1991)] demonstrated a transition at nucleotide 591 that substituted arginine for glutamine-188. The mutated glutamine is not only highly conserved in evolution, but is also 2 amino acid residues downstream from the active site histidine-proline-histidine triad. Lymphoblasts from subjects homozygous for the GLN188ARG mutation show essentially no detectable GALT activity [Fridovich-Keil and Jinks-Robertson. Proc Nat Acad Sci USA 90: 398 (1993)]. |
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| Gene |
GALT |
| Chromosomal Location |
9p13 |
| Allelic Variant 2 |
606999.0005; DUARTE VARIANT |
| Identified Mutation |
ASN314ASP; This polymorphism was identified by Reichardt and Woo [Proc Natl Acad Sci U S A 88: 2633 (1991)], who pointed out that the galactosemia mutations tend to occur in regions of the gene that are highly conserved throughout evolution while the polymorphisms change variable residues. The mutation is an A-to-G transition at basepair 2744 of exon 10, which adds an AvaII cut site. |
| Remarks |
Clinically normal variant; biochemical phenotype = D/G by electrophoresis; donor subject is heterozygous for an A>G transition at nucleotide 563 in exon 6 of the GALT gene (c.563A>G) resulting in the substitution of arginine for glutamine at codon 188 [Gln188Arg (Q188R)]; the second allele has a polymorphism: an A>G transition at nucleotide 940 in exon 10 (c.940A>G) resulting in the substitution of aspartic acid for asparagine at codon 314 [Asn314Asp (N314D)known as the Duarte variant] |
| Mohler PJ, Le Scouarnec S, Denjoy I, Lowe JS, Guicheney P, Caron L, Driskell IM, Schott JJ, Norris K, Leenhardt A, Kim RB, Escande D, Roden DM, Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes Circulation115:432-41 2007 |
| PubMed ID: 17242276 |
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