Table 3 Summary of mutations identified in 28 Japanese patients including 11 patients previously characterized

From: Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation

No. Exon/intron Nucleotide change Amino acid change Allele frequency Allele number
1 2 198A>G +865A>G I66M+I289V 0.15 8
2 2 155C>T S52F 0.02 1
3 4 344G>A W115X 0.02 1
4 4 393delT L130fs; 154X 0.02 1
5 IVS6 IVS6+5G>A 179–191 skipping 0.02 1
6 7 610C>T R204X 0.04 2
7 7 635-646 del/ins CTC (12Del3Ins) 212-216 del (NLWES)/ins (TP) 0.22 11
8 7 701T>C I234T 0.02 1
9 8 770C>T S257F 0.02 1
10 8 785C>T T262I 0.02 1
11 8 809G>A G270D 0.1 5
12 9 904C>G P302A 0.04 2
13 10 1062C>G Y354X 0.02 1
14 10 1091T>G L364R 0.02 1
15 12 1228T>G W410G 0.02 1
16 14 1544G>A R515H 0.06 3
17 15 1719-1720insT R574X 0.02 1
18 16 1853T>C L618S 0.08 4
19 17 1941G>A W647X 0.02 1
20 17 1954A>C T652P 0.1 5
Total 1 52
  1. Bold print denotes novel mutations identified in this study. “fs” indicates a frameshift starting after the respective codon