2.7.1.31 | F483S |
naturally occuring mutation, the homozygous mutation c.1448delT, p.Phe483SerfsX2 in the GLYCTK gene causes D-glyceric aciduria, but is not involved in nonketotic hyperglycinemia (NKH) as a secondary phenomenon, the latter is caused by mutations in the AMT gene (EC 2.1.2.10), also harbored by the patient |
759778 |