Description:
CYSTINURIA; CSNU
SOLUTE CARRIER FAMILY 3, MEMBER 1; SLC3A1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Amino Acid 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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White
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Family Member
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2
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Relation to Proband
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brother
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Confirmation
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Molecular characterization after 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 |
| |
| Gene |
SLC3A1 |
| Chromosomal Location |
2p16.3 |
| Allelic Variant 1 |
104614.0001; CYSTINURIA |
| Identified Mutation |
MET467THR; Calonge et al. [Nature Genet. 6: 420-425 (1994)] detected a
met467-to-thr mutation in the SLC3A1 gene in 3 cystinuric sibs. The
mutation nearly abolished the amino acid transport activity induced by the
SLC3A1 gene in Xenopus oocytes. Bisceglia et al. [Hum. Genet. 98: 447-451
(1996)] noted that this was the most common allele detected in the Spanish
and Italian population analyzed by them. |
| Remarks |
Clinically affected; affected sister is GM16500; one allele carries a ATG-ACG transversion resulting in a substitution of threonine for methionine at codon 467 [Met467Thr (M467T)] in the SLC3A1 gene. |
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