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Table 1 Claudin-16 exonic mutations selected for this study and their effects

From: Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

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
  1. aPosition in relation to the 3′ (+) or 5′ (−) splice site
  2. bData on mutant claudin-16 function are from references [9, 15]