Table 2. MLC1 (NM_015166.3) mutation status of five Korean patients with megalencephalic leukoencephalopathy with subcortical cysts.
Patient | Allele 1 | Allele 2 | ||
---|---|---|---|---|
Nucleotide change | Amino acid change | Nucleotide change | Amino acid change | |
Patient 1 | c.337_353delinsG | p.(Ile113Glyfs*4) | c.337_353delinsG | p.(Ile113Glyfs*4) |
Patient 2 | c.135delC | p.(Cys46Alafs*12) | c.824C > A | p.Ala275Asp |
Patient 3 | c.824C > A | p.Ala275Asp | c.824C > A | p.Ala275Asp |
Patient 4 | c.824C > A | p.Ala275Asp | c.824C > A | p.Ala275Asp |
Patient 5 | c.824C > A | p.Ala275Asp | c.824C > A | p.Ala275Asp |