Table 4. .
Variations in MBD5
| No. of Control Individuals with Genotype |
||||||
| Variation Type and Sequence Change |
Protein Change | Patient ID(s) | Exon/Intron | 11 | 12 | 22 |
| Nonsynonymous: | ||||||
| c.431C→T | p.T144I | A12 | 4 | CC: 660 | CT: 0 | TT: 0 |
| c.1368G→T | p.S456K | A6 and B135 | 4 | GG: 663 | GT: 1 | TT: 0 |
| c.1382G→A | p.R461H | A47 and B217 | 4 | GG: 649 | GA: 0 | AA: 0 |
| c.1962C→A | p.D654E | C231 | 4 | CC: 655 | CA: 0 | AA: 0 |
| c.1963G→A | p.A655T | 30224a | 4 | GG: 653 | GA: 0 | AA: 0 |
| c.2030G→A | p.S677N | B134, C264, and C281 | 4 | GG: 662 | GA: 3 | AA: 0 |
| c.2569G→A | p.A857T | 31833a | 5 | GG: 670 | GA: 0 | AA: 0 |
| c.3143C→T | p.T1048I | C260 | 7 | CC: 640 | CT: 0 | TT: 0 |
| Synonymous: | ||||||
| c.1638C→T | p.A546A | A109 and B139 | 4 | CC: 658 | CT: 3 | TT: 0 |
| c.2286C→T | p.H762H | B225 | 4 | CC: 338 | CT: 0 | TT: 0 |
| c.3279C→T | p.V1094V | A53 | 7 | TT: 648 | CT: 0 | CC: 0 |
a
One of the parents carries the same mutation.