Table 3.
Molecular characteristics of mutations in families with bipolar disorder
| Location | Chromosome | Gene | Identifier | Transcript | Exon | Coding | Protein |
|---|---|---|---|---|---|---|---|
| 11:128838929 | 11q24.3 | ARHGAP32 | novel | NM_014715 | 13 | c.5090G>T | p.Gly1697Val |
| 12:53694010 | 12q13.13 | C12orf10 | novel | NM_021640 | 2 | c.293A>G | p.Tyr98Cys |
| 16:23672532 | 16p12.2 | DCTN5 | novel | NM_001199743 | 4 | c.278T>C | p.Ile93Thr |
| 1:51826856 | 1p32.3 | EPS15 | rs148821171 | NM_001159969 | 12 | c.1589C>T | p.Ala530Val |
| 5:170238979 | 5q35.1 | GABRP | novel | NM_014211 | 10 | c.1040A>T | p.Glu347Val |
| 11:549982 | 11p15.5 | LRRC56 | novel | NM_198075 | 7 | c.407_408insT | p.Ser136fs |
| 15:72191038 | 15q23 | MYO9A | novel | NM_006901 | 25 | c.3806G>A | p.Arg1269Gln |
| 22:26224877 | 22q12.1 | MYO18B | rs373113816 | NM_032608 | 15 | c.2921G>A | p.Arg974His |
| 19:16860396 | 19p13.11 | NWD1 | rs148848880 | NM_001007525 | 6 | c.943C>T | p.Arg315Cys |
| 11:17172051 | 11p15.1 | PIK3C2A | novel | NM_002645 | 3 | c.1321T>G | p.Cys441Gly |
| 1:202398004 | 1q32.1 | PPP1R12B | rs199816573 | NM_001167857 | 6 | c.868G>A | p.Ala290Thr |
| 12:120650260 | 12q24 | PXN | novel | NM_025157 | 11 | c.1132C>T | p.Arg378Cys |
| 11:67172591 | 11q13.2 | TBC1D10C | rs201081455 | NM_198517 | 3 | c.188G>A | p.Arg63Gln |
| 15:43762077 | 15q15.3 | TP53BP1 | rs28903074 | NM_001141979 | 11 | c.1362_1367delTATCCC | p.454_456delinsPro |
| 11:5537397 | 11p15.4 | UBQLNL | rs7933557 | NM_145053 | 1 | c.275A>T | p.Asp92Val |
| 17:33504148 | 17q12 | UNC45B | rs137917897 | NM_001033576 | 16 | c.2138G>A | p.Arg713Gln |