Table 2.
CLDN10 disease-causing variants [32].
| Missense/Nonsense Mutations | ||||||
|---|---|---|---|---|---|---|
| Ref. | Nucleotide Change | Amino Acid Change | Protein Change | Variant Class | Exon | Domain |
| [28] | c.2T>C | Met1Thr | p.M1? | DM | 1b | Helical |
| [35] | c.144C>G | Asn48Lys | p.N48K | DM | 1b | ECS1 |
| [34] | c.217G>A | Asp73Asn | p.D73N | DM? | 1b | ECS1 |
| [36] | c.238A>G | Arg80Gly | p.R80G | DM | 2 | ECS1 |
| [28] | c.386C>T | Ser131Leu | p.S131L | DM | 3 | Helical |
| [34] | c.446C>G | Pro149Arg | p.P149R | DM? | 3 | ECS2 |
| Splicing Mutations | ||||||
| [34] | c.465–1G>A | p.E157_T192del | DM? | 4 | Helical | |
Variant class is described according the Human Gene Mutation Database [37] DM: Disease-causing mutations; DM?: probable/possible pathological mutation; ECS1: first extracellular segment; ECS2: second extracellular segment.