Table 4 of
Yaylacioglu Tuncay, Mol Vis 2016; 22:1267-1279. Table 4 of
Yaylacioglu Tuncay, Mol Vis 2016; 22:1267-1279.
Table 4. Variations of CHST6 identified in Turkish MCD patients.
| Nucleotide change | Amino acid change | Variation type | Immunotype | Patient no | Polyphen | SIFT | HGMD No | ||
|---|---|---|---|---|---|---|---|---|---|
| c.738 C>G | p.C246W | missense | I | 1(1:homozygote) | 1 (probably damaging) | 0 (not tolerated) | CM065078 | ||
| c.1 A>T | p. M1L | First codon loss | II | 1(2:heterozygote) | MD | MD | CM0650699 | ||
| c.894_895 insG | p. Q298fs | frameshift | I | 5(4,7,11,14,18: homozygote) | MD | MD | Novel | ||
| c.610 C>T | p. P204S | missense | I | 3(3: homozygote; 6: compound heterozygote | 1 (probably damaging) | 0,01 (not tolerated) | Novel | ||
| c.462_463 del GC | p. R155Afs | frameshift | I | 1(6:compound heterozgote) | MD | MD | Novel | ||
| c.526 G>A | p. V176M | missense | I,II | 2(8,15:homozygote; 9:compound heterozygote) | 1 (probably damaging) | 0 (not tolerated) | Novel | ||
| c. 631 C>T | p. R211W | missense | I | 3(10,12,17: homozygote) | 1 (probably damaging) | 0 (not tolerated) | CM002586 | ||
| c.164 T>C | p. F55S | missense | I | 1(9:compund heterozygote) | 0,968 (probably damaging) | 0 (not tolerated) | Novel | ||