Band 3 deficiencies studied
| Name of mutation . | Mutation . | Consequence . | Membrane domain . | Reference . |
|---|---|---|---|---|
| B3-Chur | 2426G>A | GGC→GAC, Gly771Asp | TM11 | Maillet et al14 (patients WR 1-5) |
| B3-Milano | 1608ins69bp | Inframe insertion | TM4 | Bianchi et al16 (patients AZ1, AZ2) |
| B3-Coimbra | 1576G>A | GTG→ATG, Val488Met | OL2 | Alloisio et al6 (patients LR1, LR2) |
| Name of mutation . | Mutation . | Consequence . | Membrane domain . | Reference . |
|---|---|---|---|---|
| B3-Chur | 2426G>A | GGC→GAC, Gly771Asp | TM11 | Maillet et al14 (patients WR 1-5) |
| B3-Milano | 1608ins69bp | Inframe insertion | TM4 | Bianchi et al16 (patients AZ1, AZ2) |
| B3-Coimbra | 1576G>A | GTG→ATG, Val488Met | OL2 | Alloisio et al6 (patients LR1, LR2) |
TM indicates transmembrane; OL, outer loop; ins, insertion; del, deletion.