Table 3 Summary of sequence elements... | American Society of Hematology

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

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.

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