Table 1 of
Park, Mol Vis 2015; 21:1201-1209. Table 1 of
Park, Mol Vis 2015; 21:1201-1209.
Table 1. Mutation alleles of the CHST6 gene identified in 7 Korean patients with MCD.
| Gene | Nucleotide change | Amino acid change | Mutation effect | Number of families | Number of individuals | Polyphen | SIFT | Reference |
|---|---|---|---|---|---|---|---|---|
| c.95C>A | p.Ser32* | Nonsense mutation | 1 | 1 | - | - | Chinese7 | |
| c.353C>T | p.Ser118Phe | Missense mutation | 1 | 2 | Probably damaging | Not tolerated | Novel | |
| c.521A>G | p.Lys174Arg | Missense mutation | 1 | 1 | Probably damaging | Not tolerated | Japanese6 | |
| c.557C>G | p.Pro186Arg | Missense mutation | 1 | 1 | Probably damaging | Not tolerated | African American5 | |
| CHST6 | c.613C>T | p.Arg205Trp | Missense mutation | 4 | 4 | Probably damaging | Not tolerated | Korean24 |
| c.786delC | p.L264Cfs*117 | Frameshift mutation | 1 | 1 | - | - | Novel | |
| c.820G>A | p.Glu274Lys | Missense mutation | 1 | 1 | Probably damaging | Not tolerated | Japanese6, Indian9 | |
| c.922C>T | p.His308Tyr | Missense mutation | 1 | 1 | Probably damaging | Not tolerated | Novel | |
| c.1072T>C | p.Tyr358His | Missense mutation | 1 | 2 | Probably damaging | Not tolerated | British4, Chinese3 |