Table 1. Reported disease-causing mutations of human HAD gene.

Mutation Site	Allele	Year reported	Clinical manifestation	Reference
P246La	Homozygous	2001	HHe	[13]
c.547-3_549delb	Homozygous	2004	HHe	[14]
IVS6-2a>gc	Homozygous	2005	HHe and seizures	[15]
D45G/Y214H	Compound heterozygous	2006	Reye syndrome but not HIf	[16]
M176Va	Homozygous	2009	Protein induced HHe	[17]
R224Xa , d	Homozygous	2009	HHe	[18]

^aNumber of the mutant residue was revised with the exclusion of transit peptide as compared with original literature.

^bThis deletion mutation affected RNA splicing and lead to a mRNA lacking exon 5.

^cThis mutation locates in splice site and the resulting mRNA were shown to comprise abnormal exon 7 sequence.

^dThe codon encoding Arg (CGA) was mutated to STOP codon (TGA) at position 224.

^eHyperinsulinemic hypoglycemia.

^fHyperinsulinism.