. 2009 Jul 24;114(13):2753–2763. doi: 10.1182/blood-2008-11-190330

Table 3.

Summary of sequence elements identified across studies

Element	Mutations in this region
Short direct repeats
¹¹¹GCCtgagggc ttggatgcag cagcttcctc cactGCCccg…	24, 25, 26, 27
¹⁴¹cactgccCCG agcacagcca CCGctgcagc…	25, 26, 27, 31, 32, 35, 36, 37, 38, 39^, 40^, 41^, 42^, 43, 44^, 45, 46, 47, 48, 49, 50, 51^, 52^, 53^, 54^, 55^
¹⁵¹agcaCAGCca ccgctgCAGC…	25, 26, 27, 32^, 34, 35^, 36^, 37, 38, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57^, 58^*, 59
¹⁷¹tgcggcactG GCCTACtaca gggacgctga GGCCTACaga…	38^, 44, 66^, 67^, 68^, 69^, 70^, 71^, 72^, 73^, 74, 75, 76, 77, 78, 79, 80, 81, 82, 83^
Indel hotspots
Ig Switch sites: TGGGG, CCCCA, GGGGT	6, 11, 12, 13, 15, 16, 17, 18, 19, 20
Pol α Hotspot: ⁴¹cccTCCCCCa…	11, 12, 13
Fragile X Hotspot: ¹⁴¹cactgccCCG…agcacagcca CCGctgcagc… (note: this hotspot is also a short direct repeat).	25, 26, 27, 31, 32, 35, 36, 37, 38, 39^, 40^, 41^, 42^, 43, 44^, 45, 46, 47, 48, 49, 50, 51^, 52^, 53^, 54^, 55^
Mononucleotide repeats
⁹CCC	4
¹⁸GGGgtCCCtGGGG	2, 7
⁴⁰CCCCtCCCCC	10, 11, 12, 13
⁹¹GGGG	15, 16, 17, 18, 19, 20
⁹⁵TTTTcTT	21
¹⁰²CCCC	22, 23
¹¹⁷GGG	28
¹³⁷CCtCC	33
¹⁴⁶CCCC	37, 38, 39, 40, 41
¹⁹¹GGG	80, 81, 82
²¹⁵CCCC	83

Mutations are depicted in columns to the left, with critical sequences indicated in bold. For ease of comparison, sequences are represented in the same 10-base blocks as shown in Figure 2, with a superscript indicating the location within exon 2. In the right column, the mutations presented and enumerated in Table 3 are indicated.

Mutations that interrupt at least one of the direct repeats.