Research Article
Novel Mutations Identified in the Chinese Han Population with Keratoconus by Next-Generation Sequencing
Table 1
All variants identified in KC patients in the present study.
| Gene | Nucleotide change | Amino acid change | SNP ID | Frequency (1KG project) | Gene region | Mutation effect | SIFT score | PolyPhen V2 score | MutationTaster |
| NFIB | c.196C > G | p.P66A | rs140030018 | 0.00219649 | Exonic | Nonsynonymous | 0.14 | 0.999 | | LIG3 | c.1626G > T | p.K542N | | | Exonic | Nonsynonymous | 0.06 | 0.573 | | XRCC1 | c.1141G > A | p.V381M | rs2271980 | | Exonic | Nonsynonymous | 0 | 0.977 | | TF | c.521C > T | p.S174L | rs150679929 | 0.00159744 | Exonic | Nonsynonymous | 0.03 | 0.678 | | ZEB1 | c.2998G > C | p.E1000Q | | | Exonic | Nonsynonymous | 0.08 | 0.293 | | NEIL1 | c.833C > T | p.T278I | rs142213781 | 0.000599042 | Exonic | Nonsynonymous | 0 | 0.998 | | FNDC3B | c.455C > T | p.P152L | | | Exonic | Nonsynonymous | 0 | 0.963 | 1 | FNDC3B | c.1438G > A | p.A480T | rs201974179 | 0.000599042 | Exonic | Nonsynonymous | 0.15 | 0.17 | | COL4A4 | c.3636_3637 | del:p.R1212fs | | | Exonic | Frameshift deletion | | | | MPDZ | c.5015G > T | p.R1672L | | | Exonic | Nonsynonymous | 0 | | | MPDZ | c.3798dupA | p.P1267fs | | | Exonic | Frameshift insertion | | | | MPDZ | c.394G > A | p.G132S | rs201101621 | 0.000399361 | Exonic | Nonsynonymous | 0.03 | | | MPDZ | c.28G > A | p.A10T | | | Exonic | Nonsynonymous | 0.05 | | | DOCK9 | c.1940C > T | p.P647L | | | Exonic | Nonsynonymous | 0 | | | TGFBI | c.624 + 7− > A | | | | Splicing | | | | | PARP1 | c.2440A > G | p.I814V | rs200630156 | 0.000798722 | Exonic | Nonsynonymous | 0.21 | 0.151 | | PARP1 | c.114G > A | p.M38I | | | Exonic | Nonsynonymous | 0.09 | 0.646 | | PARP1 | c.14C > G | p.S5W | rs201256399 | 0.00119808 | Exonic | Nonsynonymous | 0 | 0.299 | | POLG | c.3139C > T | p.R1047W | rs181860632 | 0.000399361 | Exonic | Nonsynonymous | 0.02 | 1 | | POLG | c.2890C > T | p.R964C | rs201477273 | 0.00299521 | Exonic | Nonsynonymous | 0 | 1 | | POLG | c.127_128insGGC | p.Q43delinsRQ | | | Exonic | Frameshift insertion | | | | IPO5 | c.3019G > A | p.V1007I | | | Exonic | Nonsynonymous | 0.03 | 0.006 | 0.994 | FASLG | c.280T > G | p.L94V | rs56302117 | 0.00259585 | Exonic | Nonsynonymous | 0 | 0.778 | | IL1B | c.275C > T | p.T92I | rs200401035 | 0.000199681 | Exonic | Nonsynonymous | 0.01 | 0.766 | |
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