Six different mutations in GARS have been shown to alter protein conformation – five CMT2D-associated mutants9 and P234KY corresponding to murine P278KY10, which is the spontaneous mutation found in GarsNmf249/+, the more severe CMT2D mouse model4. The gene discussed is GARS1; the disease is Autosomal dominant Charcot-Marie-Tooth disease type 2D.