Table 5. .
All Nucleotide Variants in the DYT3 Critical Region on Xq13.1
| Variant Number |
Varianta | Positionb | Locationc | Reference Numberd |
| 1 | (C)5→(C)6 | 66573096 | NLGN3 exon 7 + 8,480 bp | rs11399763 |
| 2 | A→T | 66573470 | rs7066438 | |
| 3 | (CAA)6→(CAA)7 | 66573631 | Not verified | |
| 4 | C→A | 66574044 | rs7878993 | |
| 5 | (AAAT)11→(AAAT)8 | 66574555 | Not verified | |
| 6 | (A)17→(A)16 | 66574903 | Not verified | |
| 7 | A→T | 66575368 | rs5981084 | |
| 8 | T→C | 66576795 | rs17174152 | |
| 9 | C→T | 66577311 | Not verified | |
| 10 | T→C | 66579548 | rs4844288 | |
| 11 | T→C | 66579570 | rs6624538 | |
| 12 | (A)14→(A)13 | 66580276 | Not verified | |
| 13 | C→T | 66580741 | rs6624539 | |
| 14 | A→G | 66580815 | rs6625760 | |
| 15 | A→G | 66581634 | rs4844289 | |
| 16 | G→A | 66582609 | rs7891662 | |
| 17 | G→A | 66582761 | rs5981086 | |
| 18 | (TG)8→(TG)9 | 66583578 | Not verified | |
| 19 | G→A | 66583994 | rs7057179 | |
| 20 | C→T | 66584151 | rs4844146 | |
| 21 | C→G | 66584916 | rs6525476 | |
| 22 | (TTGT)6→(TTGT)5 | 66585160 | Not verified | |
| 23 | G→A | 66585224 | rs6625761 | |
| 24 | (ATTTT)8→(A/GTTTT)11 | 66585667 | Not verified | |
| 25 | G→A | 66586595 | rs6624541 | |
| 26 | T→C | 66586686 | rs6624542 | |
| 27 | G→A | 66587216 | Not verified | |
| 28 | (A)11→(A)12 | 66587487 | Not verified | |
| 29 | C→G | 66588293 | rs6624543 | |
| 30 | G→T | 66588505 | Not verified | |
| 31 | (T)23→(T)26 | 66588516 | Not verified | |
| 32 | (T)9→(T)10 | 66588861 | Not verified | |
| 33 | A→G | 66588959 | rs6525478 | |
| 34 | G→C | 66591853 | rs7892772 | |
| 35 | G→C | 66592199 | Not verified | |
| 36 | T→C | 66592559 | rs12396931 | |
| 37 | G→T | 66592688 | Not verified | |
| 38 | (A)16→(A)15 | 66592824 | Not verified | |
| 39 | A→G | 66593416 | rs5981088 | |
| 40 | T→C | 66594092 | rs5980744 | |
| 41 | A→G | 66594674 | rs7891451 | |
| 42 | C→T | 66595654 | rs6525479 | |
| 43 | T→C | 66596926 | rs4844292 | |
| 44 | (TTTC)6→(TTTC)7 | 66597719 | Not verified | |
| 45 | (T)11→(T)12 | 66597742 | Not verified | |
| 46 | (GT)27→(GT)20 | 66597906 | Not verified | |
| 47 | G→A | 66598062 | rs6525480 | |
| 48 | C→A | 66598314 | rs7884258 | |
| 49 | G→A | 66598347 | Not verified | |
| 50 | G→A | 66598626 | rs9698457 | |
| 51 | del(G) | 66598699 | Not verified | |
| 52 | C→T | 66599576 | rs35328964 | |
| 53 | ins(T)→ | 66599603 | Not verified | |
| 54 | T→A | 66599609 | Not verified | |
| 55 | ins(T)→ | 66599615 | Not verified | |
| 56 | C→T | 66599680 | rs34640965 | |
| 57 | (A)15→(A)14 | 66599758 | Not verified | |
| 58 | A→T | 66599766 | rs9698122 | |
| 59 | T→C | 66599820 | rs34030408 | |
| 60 | A→T | 66600629 | rs7051285 | |
| 61 | A→G | 66600840 | rs7878264 | |
| 62 | (CA)21→(CA)17 | 66601155 | Not verified | |
| 63 | A→G | 66601194 | Not verified | |
| 64 | (T)18→(T)21 | 66601314 | Not verified | |
| 65 | T→A | 66601345 | Not verified | |
| 66 | (A)21→(A)20 | 66602510 | Not verified | |
| 67 | (GAAA)4→(GAAA)3 | 66602519 | Not verified | |
| 68 | del(AG) | 66602552 | Not verified | |
| 69 | (GAAA)3→(GAAA)0 | 66602554 | Not verified | |
| 70 | C→G | 66602875 | rs6525481 | |
| 71 | C→A | 66603050 | Not verified | |
| 72 | C→T | 66603721 | Not verified | |
| 73 | A→C | 66605614 | rs7058793 | |
| 74 | (T)20→(T)18 | 66605638 | Not verified | |
| 75 | A→G | 66606071 | GJB1 exon 1 − 2,676 bp | Not verified |
| 76 | (G)4→(G)5 | 66610129 | GJB1 exon 1 + 1,339 bp | Not verified |
| 77 | C→T | 66610170 | rs11094200 | |
| 78 | (A)2→(A)4 | 66611346 | Not verified | |
| 79 | C→T | 66612259 | Not verified | |
| 80 | A→G | 66612280 | Not verified | |
| 81 | A→G | 66612281 | Not verified | |
| 82 | T→G | 66612285 | Not verified | |
| 83 | A→C | 66612532 | Not verified | |
| 84 | A→G | 66612546 | Not verified | |
| 85 | (A)22→(A)24 | 66613275 | Not verified | |
| 86 | C→T | 66613467 | Not verified | |
| 87 | (T)22→(T)18 | 66613644 | Not verified | |
| 88 | del(CT) | 66614391 | Not verified | |
| 89 | G→C | 66615041 | rs5980747 | |
| 90 | A→T | 66615382 | rs11094201 | |
| 91 | (T)19→(T)20 | 66616041 | rs11417492 | |
| 92 | G→A | 66616496 | GJB1 exon 2 − 697 bp | Not verified |
| 93 | T→C | 66619432 | GJB1 exon 2 + 737 bp | rs1997625 |
| 94 | (A)12→(A)13 | 66619843 | Not verified | |
| 95 | (T)14→(T)15 | 66620314 | Not verified | |
| 96 | A→C | 66622409 | Not verified | |
| 97 | (A)26→(A)27 | 66622587 | Not verified | |
| 98 | A→G | 66623453 | rs752081 | |
| 99 | (AGGG)5→(AGGG)4 | 66623969 | Not verified | |
| 100 | A→T | 66624355 | Not verified | |
| 101 | G→A | 66624540 | rs2341629 | |
| 102 | C→A | 66626295 | rs17311899 | |
| 103 | (TTTC)15→(TTTC)12 | 66627870 | DXS10015 | |
| 104 | (TTCC)10→(TTCC)9 | 66629254 | DXS7119 | |
| 105 | (T)15→(T)16 | 66629594 | rs17311899 | |
| 106 | T→A | 66630734 | rs4240822 | |
| 107 | C→A | 66631264 | ZNF261 exon 25 − 1,861 bp | Not verified |
| 108 | ins(AGA) | 66635550 | ZNF261 exon 23 − 121 bp | Not verified |
| 109 | A→G | 66640470 | ZNF261 exon 14 + 278 bp | rs5937076 |
| 110 | G→A | 66642833 | ZNF261 exon 7 − 129 bp | rs2341539 |
| 111 | (TC)32→(T)26 | 66648586 | ZNF261 exon 1 + 513 bp | DXS10016 |
| 112 | G→A | 66656109 | Not verified | |
| 113 | A→T | 66662285 | Not verified | |
| 114 | (A)21→(A)33 | 66666570 | Not verified | |
| 115 | (T)18→(T)19 | 66672301 | NONO exon 1 + 4,852 bp | Not verified |
| 116 | (T)21→(T)22 | 66681621 | NONO exon 3 − 2,509 bp | Not verified |
| 117 | (TATC)10→(TATC)8 | 66703094 | ITGB1 exon 11 + 4,240 bp | DXS0572i |
| 118 | T→A | 66710966 | Not verified | |
| 119 | C→T | 66713140 | rs12845815 | |
| 120 | (T)20→(T)21 | 66714867 | Not verified | |
| 121 | C→T | 66715822 | rs4269695 | |
| 122 | (T)20→(T)21 | 66718066 | rs34793613 | |
| 123 | (ACAA)2→(ACAA)1 | 66721012 | Not verified | |
| 124 | (T)17→(T)18 | 66722840 | Not verified | |
| 125 | G→A | 66733338 | Not verified | |
| 126 | C→T | 66735475 | Not verified | |
| 127 | (GAGGGG)6→(GAGGGG)5 | 66736067 | Not verified | |
| 128 | C→T | 66738056 | Not verified | |
| 129 | (TG)29→(TG)27 | 66746683 | TAF1 exon 1 − 13,082 bp | DXS10017 |
| 130 | (A)26→(A)25 | 66765934 | TAF1 exon 4 − 2,734 bp | ss66974122 |
| 131 | (T)20→(T)19 | 66773098 | TAF1 exon 8 + 567 bp | ss66974125 |
| 132 | T→G | 66784696 | TAF1 exon 19 − 1,374 bp | DSC12 |
| 133 | (TG)21→(TG)22 | 66786726 | TAF1 exon 21 − 76 bp | DXS8030 |
| 134 | A→G | 66791094 | TAF1 exon 23 + 128 bp | rs5980760 |
| 135 | (T)21→(T)22 | 66793069 | TAF1 exon 24 + 832 bp | ss66974128 |
| 136 | (T)26→(T)24 | 66817916 | TAF1 exon 32 + 178 bp | ss66974131 |
| 137 | (T)29→(T)30 | 66824505 | ss66974134 | |
| 138 | ins(SVA retroposon) | 66834003 | Disease specific | |
| 139 | C→T | 66834990 | DSC10 | |
| 140 | (A)21→(A)20 | 66838800 | ss66974137 | |
| 141 | (C)12→(C)11 | 66845611 | TAF1 exon 33 − 2,060 bp | ss66974140 |
| 142 | (T)43→(T)41 | 66850192 | TAF1 exon 35 − 1,550 bp | ss66974143 |
| 143 | C→A | 66877281 | ING2 exon 1 − 7,899 bp | dbSTS143400 |
| 144 | (TA34/TG8)→(TA16/TG2) | 66896816 | −48-bp deletion | |
| 145 | (A)30→(A)33 | 66898243 | ss66974146 | |
| 146 | A→C | 66901589 | ss66974149 | |
| 147 | T→A | 66907161 | DSC1 | |
| 148 | (T)16→(T)17 | 66909738 | ss66974152 | |
| 149 | C→T | 66910841 | SNP5 | |
| 150 | (T)21→(T)22 | 66912194 | ss66974155 | |
| 151 | del(1666bp)e | 66913932 | Polymorphism | |
| 152 | C→T | 66923286 | DSC3 | |
| 153 | G→A | 66924934 | DSC2 | |
| 154 | (TG)19→(TG)16 | 66937236 | DXS8101 | |
| 155 | (TG)23→(TG)24 | 66948636 | OGT exon 3 − 55 bp | DXS10018 |
| 156 | C→T | 66954497 | OGT exon 11 − 779 bp | SNP4 |
| 157 | (T)26→(T)23 | 66963535 | OGT exon 17 + 1,919 bp | Not verified |
| 158 | C→T | 67027072 | Not verified | |
| 159 | (TA)24→(TA)33 | 67034222 | Not verified |
a
Insertion and deletions are indicated by “ins” and “del,” respectively, against the reference allele.
b
Start position of nucleotide variant in NCBI build 30.
c
None of the variants listed here are located in any exon of experimentally verified coding sequence, so location indicates a distance (in bp) from an exon to the closest variant.
d
Reference number in public resources: dbSNP, dbSTS, GenBank, and/or Medline. The variants “Not verified” were not confirmed using our ethnic panel.
e
The 1,666-bp deletion was observed by PCR in all samples tested here, including all affected and unaffected samples from the Philippines.