Patient origin TGFBI mutations in corneal dystrophy Subtype Reference

Gene/Exon

Nucleotide

Codon
China 4 418 G>A A124H RBCD [9]
[10]
12 1664G>C A555G
Taiwan 4 418G>T R124C LCD1 [11]
4 418G>A R124H GCD2
12 1646G>C A546D vLCD
12 1664G>A R555Q TBCD
12 1664G>T R555W GCD1
Korea 12 1580T>G L527R LCD 4 [12]
[13]
12 1620T>C F540F  
12 1664G>A R555Q TBCD
4 371G>A R124H GCD2
4 370C>T R124C LCD1
12 1580T>G L527R LCD2
12 1625C>G P542R LCD2
Poland 4 417C>T R124C LCD1 [14]
[15]
4 418G>A R124H GCD2
12 1711G>A R555Q TBCD
12 1710C>T R555W GCD1
14 1924A>G H626R vLCD
13 1694T>C L565P LCD
Japan     P501T LCD 3 [16]
Mexico 4 337G>A V113I aGCD [17]
11 1504A>G M502V unknown
12 1637C>A A546D PCA
12 1649T>C L550P GCD2
12 1663C>T R555W GCD1
14 1877A>G H626R LCD
America 14 1877A>G H626R LCD [18]
New Zealand 12 1664C>T R555W GCD1 [19]
14 1877A>C H626P CDB
Middle East 4 418G>A R124H ACD [20]
Italy 14 1892G>T V631N LCD [21]
Table 3: Review of geographic origins of TGFBI mutations in corneal dystrophy.