Table 2 List of sequence variants of the VSX1 gene in Chinese sporadic keratoconus patients
From: Analysis of the VSX1 gene in sporadic keratoconus patients from China
Nucleotide change | Amino acid change | Change site | Change type | Keratoconus (n = 50) | Controls (n = 50) |
|---|---|---|---|---|---|
c.5427G > C | p.Arg131Pro | First exon | Heterozygous missense variant | 1 (2.0%) | 0 (0.0%) |
c.7672G > T | p.Gly160Val | Second exon | Heterozygous missense variant | 2 (4.0%) | 0 (0.0%) |
c.8326G > A | Noncoding region | Third intron | Heterozygous SNP variant | 3 (6.0%) | 4 (8.0%) |
c.8326G > A | Noncoding region | Third intron | Homozygous SNP variant | 2 (4.0%) | 1 (2.0%) |