OMIM: 600794Inheritance: Autosomal dominant
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | GARS |
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| Dna Change: | c.1738G>C |
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| Protein Change: | p.Gly580Arg |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 14 |
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| Transcript: | NM_002047.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Algeria | Jews | NA | 16 patients/3 families | NA | Dubourg O et al., 2006Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E, . The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.. Neurology. 2006; 66(11):1721-6 |
References
Dubourg O, Azzedine H, Yaou RB, Pouget J, Barois A, Meininger V, Bouteiller D, Ruberg M, Brice A, LeGuern E, The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.Neurology. 2006; 66(11):1721-6