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. 2007 Aug 28;81(4):768–779. doi: 10.1086/521274

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.