Table 1: Mutations in UBIAD1 associated with Schnyder corneal dystrophy.

ExonNucleotide changeAmino acid changeNumber of families reportedReferences

1c.289G>Ap.(Ala97Thr)1[18]
1c.290G>Ap.(Gly98Ser)1[19]
1c.305A>Gp.(Asn102Ser)20[15, 17, 18, 2023]
1c.308C>Tp.(Thr103Ile)1Current study
1c.334G>Ap.(Asp112Asn)1[18]
1c.335A>Gp.(Asp112Gly)1[17]
1c.353A>Gp.(Asp118Gly)1[21]
1c.355A>Gp.(Arg119Gly)1[17, 20]
1c.361C>Gp.(Leu121Val)1[20]
1c.361C>Tp.(Leu121Phe)3[21, 24]
1c.365T>Ap.(Val122Glu)1[18]
1c.365T>Gp.(Val122Gly)1[18]
1c.511T>Cp.(Ser171Pro)1[21, 25]
1c.521A>Gp.(Tyr174Cys)1[26]
1c.524C>Tp.(Thr175Ile)2[17, 21]
1c.529G>C p.(Gly177Arg)1[15]
1c.529G>Ap.(Gly177Arg)2[21]
2c.530G>Ap.(Gly177Glu)6[27]
2c.542A>Gp.(Lys181Arg)1[26]
2c.556G>Ap.(Gly186Arg)1[21]
2c.563T>Ap.(Leu188His)1[18]
2c.695A>Gp.(Asn232Ser)1[17]
2c.697A>Cp.(Asn233His)1[26]
2c.708C>Gp.(Asp236Glu)1[21]
2c.710T>Ap.(Ile245Asn)1[23]
2c.718G>Ap.(Asp240Asn)1[28]

Four of the six families may be related and thus may be due to a common founder effect.