Table 1

List and frequencies of the mutations identified in 32 AKU chromosomes from Slovak patients. Positions of nucleotide changes are related to the transcription start site as described in Granadino et al.15 (Human HGO transcript: AF O45167; the ATG initiation codon is located at position c168)

Mutation Type Nucleotide change No and % of chromosomes (out of 32) Reference
IVS 1-1 G→ASplice sitec183-1G→A1 (3.125%) 9
S 47 LMissensec307 C→T1 (3.125%)Present report
IVS 5+1 G→ASplice sitec509+ 1 G→A2 (6.25%)Present report
G 152 fsFrameshiftc621 ins G8 (25%) 6
G 161 RMissensec648 G→A8 (25%) 6
P 230 SMissensec855 C→T2 (6.25%) 5
7
G 270 RMissensec975 G→A4 (12.5%)Present report
V 300 GMissensec1066 T→G1 (3.125%) 5
7
P 370 fsFrameshiftc1273 ins C5 (15.625%)Present report