Table 5.
CLDN19 disease-causing variants [32].
| Missense/Nonsense Mutations | ||||||
|---|---|---|---|---|---|---|
| Ref. | Nucleotide Change | Amino Acid Change | Protein Change | Variant Class | Exon | Domain |
| [50] | c.54G>A | Trp18Term | p.W18 * | DM | 1 | TM1 |
| [47,50,51,57,58,67,70,72,101,102,103] | c.59G>A a,b | Gly20Asp | p.G20D | DM | 1 | TM1 |
| [50,101,102] | c.83C>T | Pro28Leu | p.P28L | DM | 1 | TM1 |
| [51] | c.122T>C | Ile41Thr | p.I41T | DM | 1 | ECS1 |
| [50,67] | c.130G>A | Val44Met | p.V44M | DM | 1 | ECS1 |
| [47,51,57] | c.169C>G | Gln57Glu | p.Q57E | DM | 1 | ECS1 |
| [50,72] | c.169C>T | Gln57Term | p.Q57 * | DM | 1 | ECS1 |
| [51] | c.223G>T | Gly75Cys | p.G75C | DM? | 1 | ECS1 |
| [51] | c.223G>A | Gly75Ser | p.G75S | DM? | 1 | ECS1 |
| [68,76] c | c.241C>T | Arg81Trp | p.R81W | DM | 2 | ECS1 or TM2? |
| [104] | c.263T>A | Val88Glu | p.V88E | DM | 2 | TM2 |
| [72] | c.269T>G | Leu90Arg | p.L90R | DM | 2 | TM2 |
| [47,57] | c.269T>C | Leu90Pro | p.L90P | DM | 2 | TM2 |
| [51] | c.364G>A | Gly122Arg | p.G122R | DM | 2 | TM3 |
| [63] | c.388G>T | Gly130Asp | p.G130C | DM | 2 | TM3 |
| [63,75] | c.389G>A | Gly130Asp | p.G130D | DM | 3 | TM3 |
| [105] | c.506G>A d | Trp169Term | p.W169 * | DM | 4 | TM4 |
| [94] | c.535G>A | Gly179Ser | p.G179S | DM | 4 | TM4 |
| [72] | c.599G>A | Arg200Gln | p.R200Q | DM? | 4 | C term |
| Small Deletions | ||||||
| Nucleotide Change | Protein Change | Variant Class | Exon | Domain | ||
| [106] | c.140_141delAT | p.(Tyr47 *) | DM | 1 | ECS1 | |
| [50] | c.403_406delACTG | p.(Thr135Leufs*9) | DM | 3 | TM3 | |
| Gross Deletions | ||||||
| DNA Level | Description | Variant Class | Exon | Domain | ||
| [50] | g.DNA | Ex. 1-4 | DM | 1-4 | ||
Variant class is described according the Human Gene Mutation Database [37]. DM: Disease-causing mutations; DM?: probable/possible pathological mutation. Domains are described according to authors and [99]. C Term, COOH terminus; TM, transmembrane domain; ECS1, first extracellular segment; ICL, intracellular loop; ECS2, second extracellular segment; N Term, NH2 terminus. a: reported as c.C>T in ref [58]; b: reported as c.69G>A in ref [72]; c: reported as p.Arg81Cys in ref [68]; d: reported as c.697G>A in ref [105]; * indicates that the predicted consequence is a termination codon..