Reported disease-causing mutations of human <i>HAD</i> gene.

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.