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NA19903 DNA from LCL

Description:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
GLYCYL-TRNA SYNTHETASE; GARS

Affected:

Yes

Sex:

Male

Age:

49 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of the Nervous System
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Clinically affected; bilateral foot drop; sensation to cold is fine; marked distal weakness; proximal leg strength is fine; EMG at age 49 showed evidence for a sensorimotor axonal polyneuropathy; EMG at age 53 was compatible with a neuropathy affecting both motor and sensory axons, but motor fibers are affected to a far greater extent and the findings were not significantly different from those seen 4 years earlier; donor subject carries a G>C change at nucleotide 1236 (1236G>C) in the glycyl tRNA synthetase gene (GARS) which results in a glycine to arginine amino acid change at position 240 [Gly240Arg (G240R)].

Characterizations

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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 GARS
Chromosomal Location 7p15
Allelic Variant 1 600287.0001; CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
Identified Mutation GLY240ARG; In 2 families with CMT2D (601472) first reported by Ionasescu et al. (1996) and Pericak-Vance et al. (1997), Antonellis et al. (2003) identified a 1236G-C change in the GARS gene, resulting in a gly240-to-arg (G240R) substitution. The mutation was absent in 368 unrelated chromosomes.

Phenotypic Data

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Remarks Clinically affected; bilateral foot drop; sensation to cold is fine; marked distal weakness; proximal leg strength is fine; EMG at age 49 showed evidence for a sensorimotor axonal polyneuropathy; EMG at age 53 was compatible with a neuropathy affecting both motor and sensory axons, but motor fibers are affected to a far greater extent and the findings were not significantly different from those seen 4 years earlier; donor subject carries a G>C change at nucleotide 1236 (1236G>C) in the glycyl tRNA synthetase gene (GARS) which results in a glycine to arginine amino acid change at position 240 [Gly240Arg (G240R)].

External Links

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dbSNP dbSNP ID: 17368
Gene Cards GARS
Gene Ontology GO:0004820 glycine-tRNA ligase activity
GO:0005524 ATP binding
GO:0005625 soluble fraction
GO:0005737 cytoplasm
GO:0006412 protein biosynthesis
GO:0006426 glycyl-tRNA aminoacylation
GO:0016874 ligase activity
NCBI Gene Gene ID:2617
NCBI GTR 600287 GLYCYL-tRNA SYNTHETASE 1; GARS1
601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
OMIM 600287 GLYCYL-tRNA SYNTHETASE 1; GARS1
601472 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D; CMT2D
Omim Description CHARCOT-MARIE-TOOTH DISEASE, NEURONAL TYPE, D
  CMT2D
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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  • GM19903 - B-Lymphocyte
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