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Table 3 Mutations in the SLC6A8 gene

From: Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

Mutations Number of patients identified in this study Reference
Exon (e)/Intron (i) Nucleotide Amino acid Male Female
Hemizigous Heterozygous
e2 c.321_323delCTT p.F107del 2 a - Degrauw et al., 2002[64]
i4 c.778-2A > G p.(?) 1 - Betsalel et al., 2011[61]
e6 c.926C > A p.A309E 1 - This study
e6 c.930delG p.T311PfsX85 1 - This study
e6 c.942_944delCTT p.F314del - 1 Fons et al., 2009[65]
e6 c.1006_1008delAAC p.N336del 1 - Clark et al., 2006[56]
e8 c.1208C > A p.A403D 1 - This study
i9 c.1393-1G > A p.(?) 2 a - This study
e11 c.1519_1543del p.I507LfsX5 1 - Betsalel et al., 2011[61]
  1. Nucleotide numbering starting at the first adenine of the translation initiation codon ATG.
  2. a Two affected brothers.