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Table 1 Reported mutated types of HAHD gene in SCHAD-HI patients

From: Genetic pathogenesis, diagnosis, and treatment of short-chain 3-hydroxyacyl-coenzyme A dehydrogenase hyperinsulinism

Mutation type Acid change (nuleotide change)
Missense/nonsense p.R10P (c.29G > C) p.I184F(c.550A > T)
  p.V30E (c.89T > A) p.Y226H(c.676 T > C)
  p.G34A (c.100G > C) p.R236X(c.706C > T)
  p.D57G(c.170A > G) p.P258L (c.773C > T)
  p.K136E (406A > G) p.M188V (c.562A > G)
  p.Q163X (c.487C > T)  
Splice p.(c.133-1G > A) p.(c.710-2A > G)
  p.(c.419 + 1G > A) p.(c.709 + 39C > G)
  p.(c.547-1G > C) p.(c.261 + 1G > A)
  p.(c.636 + 471G > T)  
Small deletions p.Val116Trpfs*9(c.346delG) p.S196fs (c.587del)
  p.T189fs (c.565del) p.K206fsX14 (c.617delA)
  p.(c.547-3_549del)  
Deletions/indels p.K95S (c.283_293del11insT)  
Cross deletions p.(c.1-3440_132 + 1943 [ex. 1])