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% |