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Table 3 Summary of VSX1 coding variants identified in patients with keratoconus [22]

From: Analysis of the VSX1 gene in sporadic keratoconus patients from China

Coding variants Clinical significance Phenotype Unrelated Controls Ethnic groups References
p.Leu 17 Pro Pathogenica Keratoconus Italian [17]
p.Leu 17 Val Nonpathogenic Keratoconus + Korean [31]
p. Pro 58 Leu Pathogenica, b Keratoconus Caucasian [32]
p. Leu 159 Met Unknown Keratoconus Caucasian [16, 18]
p. Asn 151 Ser Pathogenica Keratoconus Korean [33]
p. Gly 160 Val Nonpathogenic Keratoconus + Korean [31, 33]
p. Val 199 Leu Nonpathogenic Keratoconus + Korean [31]
p. Arg 166 Trp Unknown Keratoconus + Caucasian, Iranian [16, 34]
p. Gln 175 His Unknown Keratoconus Indian [35]
p. Arg 217 His Nonpathogenic Keratoconus + Indian, Pakistan, European [19, 36]
p. Gly 239 Arg Pathogenica, b Keratoconus Italian [29]
p. His 244 Arg Unknown Keratoconus + Caucasian, Iranian [16, 18, 34, 37]
p. Ser 251 Thr Unknown Keratoconus Indian [22]
p. Pro 247 Arg Nonpathogenic Keratoconus + Italian [16, 17, 38]
p. Leu 268 His Pathogenica, b Keratoconus Indian [22]
  1. Coding variants of the VSX1 gene have been reported in studies based on an original reporta and bioinformatic predictionsb. The symbols “+” and “−” represent present and absent, respectively