Description:
PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
PHOSPHOGLYCERATE KINASE 1; PGK1
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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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Race
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Asian
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Ethnicity
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CHINESE
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 |
| |
| Gene |
PGK1 |
| Chromosomal Location |
Xq12 |
| Allelic Variant 1 |
D163V; PHOSPHOGLYCERATE KINASE 1 |
| Identified Mutation |
ASP163VAL; Analysis of PGK1 mRNA revealed a change of A>T at nucleotide 491 resulting in a substitution of valine for asparagine [Asp163Val (D163V)] at codon 163 |
| Remarks |
Chinese; chronic anemia; mental retardation; seizures; analysis of mRNA revealed a nucleoside base change A>T at position 491 (491A>T) in the PGK1 gene which produces an amino acid substitution Asp>Val at peptide position 163 [Asp163Val (D163V)] |
| Turner G, Fletcher J, Elber J, Yanagawa Y, Dave V, Yoshida A, Molecular defect of a phosphoglycerate kinase variant associated with haemolytic anaemia and neurological disorders in a large kindred. Br J Haematol91:60-5 1995 |
| PubMed ID: 7577653 |
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