Table 1: Phenotypes and Functional Properties of NBCe1 Mutations

R298S Q29X S427L T485S G486R R510H W516X L522P N721TxfsX29 A799V R881C S982NfsX4
Gender F F F M F F F M M F F F
Number of patients 1 1 1 1 1 1 1 1 1 1 1 2
Country Japan Japan USA USA Brazil Japan Taiwan USA USA Turkey UAE Belgium
Blood HCO3- (mEq/l) (normal value: 24) 8 9.4 11 13 3 5.5 10 NA 13.2 6.3 10.6 14.8 /17.3
Band keratopathy + - + + + + + + + + + +
Glaucoma + + + - - + + + + + + +
Cataract + - + + + + + + + + + +
Migraine - - NA - - + - + + - + +
Proper membrane expression in mammalian cells - - - + + - - - - + - -
Activity in HEK293 cells 39% NA NA 30% 42% 6% NA 0% NA 32% 4% 3%

NA:data not available. Data from reference [15,19-25].