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 | ||