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Details of RareLED ID 2019

Primary information
ID	2019
Disorder	GM2gangliosidosis Tay-Sachs disease (HEXA)
Inheritance	Autosomal recessive
Organ Affected	Nervous System,Lungs,Eye
Onset	Early Adult (both)
Genotype-Phenotype Correlation	E482K: E482K is a buried residue important for a salt bridge with an arginine residue The change in charge of this residue likely explains the massive conformational changes predicted to occur. E482K and G269S ? mutants remain unprocessed and have impaired activities. G269S: adult-onset TSD, E482K mutant is a relatively rare variant, but a severe one that exhibits little residual activity and causes infantile forms of TSD82K: E482 is a buried residue important for a salt bridge with an arginine residue The change in charge of this residue likely explains the massive conformational changes predicted to occur. E482K and G269S ? mutants remain unprocessed and have impaired activities
Refrences	27682588