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Table 5 Summary of VSX1 coding variants identified in patients with KC and PPCD

From: Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India

Coding variants Clinical significance Phenotype Unrelated Ethnic groups References
Controls
p. Leu17Pro Pathogenicb KC - Italian [26]
p. Leu17Val Non-pathogenic KC + Korean [23]
p. Pro58Leu Pathogenicbc KC - Caucasian [22]
p. Asp144Glu Unknown PPCD - Italian, Ashkenazi Jewish, British, European [16, 26, 3437]
p. Leu159Met Unknown KC - Caucasian [16, 38]
p. Asn151Ser Pathogenicb KC - Korean [39]
p. Gly160Asp Non-pathogenic PPCD - Italian, European [16, 26, 40]
p. Gly160Val Non-Pathogenic KC + Korean [23, 39]
p. Val199Leu Non pathogenic KC + Korean [23]
p. Arg166Trp Unknown KC + Caucasian, Iranian [16, 24]
p. Gln175His Unknown KC - Indian [25]
p. Arg217His Non- Pathogenic KC + Indian, Pakistan, European [40, 41]
p. Gly239Arg Pathogenicbc KC - Italian [42]
p. His244Arg Unknown KC + Caucasian, Iranian [16, 24, 38, 43]
p. Ser251Thr a Unknown KC - Indian Present study
p. Pro247Arg Non-pathogenic KC + Italian [16, 26, 35]
p. Leu268His a Pathogenicbc KC - Indian Present study
  1. Coding variants of the VSX1 gene have been reported in presenta and other studies based on original reportb and bioinformatics predictionsc
  2. KC: Keratoconus, PPCD: Posterior polymorphous corneal dystrophy, The symbols  + ” and “-” represent present and absent, respectively