Description:
TUBEROUS SCLEROSIS 2; TSC2
TSC2 GENE; TSC2
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Hereditary Cancers |
| Class |
Other Disorders of Known Biochemistry |
| 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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Family Member
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1
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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 |
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| Gene |
TSC2 |
| Chromosomal Location |
16p13.3 |
| Allelic Variant 1 |
191092.0011; TUBEROUS SCLEROSIS, TYPE 2 |
| Identified Mutation |
GLN1503PRO; In a family with mild physical features of tuberous
sclerosis (191100) in association with neuropsychiatric disorders, Khare
et al. [J. Med. Genet. 38: 347-349 (2001)] reported an A-to-C transversion
at nucleotide 4508 in exon 34 of the TSC2 gene. This mutation resulted in
the substitution of a proline residue for a glutamine at codon 1503, which
Khare et al. [J. Med. Genet. 38: 347-349 (2001)] pointed out is within a
region with homology to rap1 GTPase-activating protein (600278). Khare et
al. [J. Med. Genet. 38: 347-349 (2001)] also found this mutation in an
unrelated family from the same geographic area. |
| Remarks |
Clinically affected; hypomelanotic skin macules (white spots or white skin freckles); member of a four generation family [family TS-15 in Smith et al. Genomics 6:105-114 (1990)] with 24 cases of tuberous sclerosis, some with only a mild form of the disease; donor subject carries a missense mutation in the GTPase activating protein homology region of the TSC2 gene due to an A-to-C transversion (CAG>CCG) at nucleotide position 4508 (4508A>C) which results in the substitution of proline for glutamine [GLN1503PRO (Q1503P)] at codon 1503 in exon 34 |
| Au KS, Williams AT, Roach ES, Batchelor L, Sparagana SP, Delgado MR, Wheless JW, Baumgartner JE, Roa BB, Wilson CM, Smith-Knuppel TK, Cheung MY, Whittemore VH, King TM, Northrup H, Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States Genetics in medicine : official journal of the American College of Medical Genetics9:88-100 2007 |
| PubMed ID: 17304050 |
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| Smith M, Smalley S, Cantor R, Pandolfo M, Gomez MI, Baumann R, Flodman P, Yoshiyama K, Nakamura Y, Julier C, et al, Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23. Genomics6(1):105-14 1990 |
| PubMed ID: 2303253 |
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