Table 1 Claudin-16 exonic mutations selected for this study and their effects
Mutation | Reference | Exon | Position in exona | Amino acid change prediction | Protein functionb | Minigene result | |
|---|---|---|---|---|---|---|---|
SIFT (score) | PolyPhen (score) | ||||||
c.341G > A; p.(R114Q) | [15] | 2 | + 17 | Tolerated (0.25) | Possibly damaging (0.748) | Partial loss | No effect |
c.416C > T; p.(A139V) | [41] | 2 | -12 | Damaging (0.01) | Possibly damaging (0.774) | – | No effect |
c.421C > G; p.(H141D) | [42] | 2 | -7 | Tolerated (1.00) | Probably damaging (0.999) | Partial loss | No effect |
c.434 T > C; p.(L145P) | [42] | 3 | + 7 | Damaging (0.00) | Probably damaging (0.972) | Complete loss | No effect |
c.446G > A; p.(R149Q) | [43] | 3 | + 19 | Damaging (0.03) | Probably damaging (0.999) | – | No effect |
c.446G > T; p.(R149L) | [30] | 3 | + 19 | Damaging (0.00) | Probably damaging (0.999) | Complete loss | Truncated exon 3 |
c.452 T > G; p.(L151W) | [42] | 3 | + 25 | Damaging (0.00) | Probably damaging (0.998) | Partial loss | No effect |
c.453G > T; p.(L151F) | [42] | 3 | + 26 | Damaging (0.00) | Probably damaging (0.985) | Partial loss | Truncated exon 3 |
c.485G > T; p.(G162V) | [41] | 3 | + 58 | Damaging (0.01) | Probably damaging (0.989) | – | No effect |
c.571G > A; p.(G191R) | [1] | 3 | −22 | Damaging (0.00) | Probably damaging (1.000) | Partial loss | Exon 3 skipping |
c.593G > A; p.(G198D) | [1] | 4 | + 1 | Damaging (0.00) | Probably damaging (0.994) | Complete loss | Exon 4 skipping |
c.593G > C; p.(G198A) | [30] | 4 | + 1 | Tolerated (0.07) | Probably Damaging (0.961) | – | Exon 4 skipping |