The UMD-DMD France mutations database
Small insertions analysis

This function determines for each small insertion if repeated sequences could be involved in the ætiology of this mutation.

This option is used to check if a repeated sequence could be involved in the mutational event. In this hypothesis, a repeated sequence is created by the insertion process to complete a partially duplicated sequence. For example the CGA sequence is inserted in the ctttctacgattaattaaggca and result in ctttctacgattaaCGAttaaggca. the repated sequence created by the insertion process is cgattaa (ctttctaCGATTAACGATTAAggca).

Total number of insertions: 116 (129 records)

Small insertions with known sequences: 116 (129 records)

Insertions involving repeated sequences: 100 (86.21 %) 

AA Position Mutation Repeated sequence Number of recordsInsertion / Repeated sequences
1086 c.3257dup AAAAAAA
4

cttggggattcagaaattctaaaaaaAgcagctgaaacagtgcagacttttagtcagtga
cttggggattcagaaattctAAAAAAAgcagctgaaacagtgcagacttttagtcagtga

2204 c.6611dup AAAAAAA
3

tgcaaacagctgtcagacagaaaaaaAgaggctagaagaacaaaagaatatcttgtcaga
tgcaaacagctgtcagacagAAAAAAAgaggctagaagaacaaaagaatatcttgtcaga

1900 c.5697dup AAAAAAAAA
2

atgcttggatgacattgaaaaaaaaAttagccagcctacctgagcccagagatgaaagga
atgcttggatgacattgAAAAAAAAAttagccagcctacctgagcccagagatgaaagga

1772 c.5313dup TTT
2

tcgatttgcagccatttcacacagaattTaagactggaaaggcctccattcctttgaagg
tcgatttgcagccatttcacacagaaTTTaagactggaaaggcctccattcctttgaagg

1451 c.4350dup AAAAAAA
2

ctcagattgatgttgcacagaaaaaaAttacaagatgtctccatgaagtttcgattattc
ctcagattgatgttgcacagAAAAAAAttacaagatgtctccatgaagtttcgattattc

3294 c.9880_9881dup TGTGTG
2

gagactggaaccccagtccatggtgtgTGgctgcccgtcctgcacagagtggctgctgca
gagactggaaccccagtccatggTGTGTGgctgcccgtcctgcacagagtggctgctgca

432 c.1294dup GGGG
2

cagatgaatctcctaaattcaagatgggGaatgcctcagggtagctagcatggaaaaaca
cagatgaatctcctaaattcaagatGGGGaatgcctcagggtagctagcatggaaaaaca

3485 c.10453dup CCCCCCC
2

ccaaagtttgaaccaggactccccccCtgagccagcctcgtagtcctgcccagatcttga
ccaaagtttgaaccaggactCCCCCCCtgagccagcctcgtagtcctgcccagatcttga

2485 c.7453dup TT
1

caaccgggcttggacagaacttaccgactTggctttctctgcttgatcaagttataaaat
caaccgggcttggacagaacttaccgacTTggctttctctgcttgatcaagttataaaat

2469 c.7406dup TT
1

gaaatgccatcttccttgatgttggaggtTacctgctctggcagatttcaaccgggcttg
gaaatgccatcttccttgatgttggaggTTacctgctctggcagatttcaaccgggcttg

2556 c.7666insGA GAA
1

agaacaatcattacggatcgaattgaaGAagaattcagaatcagtgggatgaagtacaag
agaacaatcattacggatcgaattGAAGAAgaattcagaatcagtgggatgaagtacaag

2600 c.7797_7798dup CACA
1

gaagctgagcaggtcttaggacaggccaCAgagccaagcttgagtcatggaaggagggtc
gaagctgagcaggtcttaggacaggcCACAgagccaagcttgagtcatggaaggagggtc

2609 c.7826dup GGGG
1

gagccaagcttgagtcatggaaggagggGtccctatacagtagatgcaatccaaaagaaa
gagccaagcttgagtcatggaaggaGGGGtccctatacagtagatgcaatccaaaagaaa

262 c.783dup TT
1

aaatgttgccaaggccacctaaagtgactTaaagaagaacattttcagttacatcatcaa
aaatgttgccaaggccacctaaagtgacTTaaagaagaacattttcagttacatcatcaa

2612 c.7833dup TA
1

cttgagtcatggaaggagggtccctatTacagtagatgcaatccaaaagaaaatcacaga
cttgagtcatggaaggagggtcccTAtTAcagtagatgcaatccaaaagaaaatcacaga

2620 c.7858dup AAAAA
1

atacagtagatgcaatccaaaagaaaaAtcacagaaaccaagcagttggccaaagacctc
atacagtagatgcaatccaaaagAAAAAtcacagaaaccaagcagttggccaaagacctc

2631 c.7891dup CCC
1

gaaaccaagcagttggccaaagacctccCgccagtggcagacaaatgtagatgtggcaaa
gaaaccaagcagttggccaaagacctCCCgccagtggcagacaaatgtagatgtggcaaa

2427 c.7279dup CCC
1

caagagctgagggcaaagcagcctgaccCtagctcctggactgaccactattggagcctc
caagagctgagggcaaagcagcctgaCCCtagctcctggactgaccactattggagcctc

2696 c.8086dup CTGGA
1

atagattactgcaacagttcccccCtggacctggaaaagtttcttgcctggcttacagaa
atagattactgcaacagttcccccCTGGAcCTGGAaaagtttcttgcctggcttacagaa

2740 c.8217dup AAA
1

agtaaaagagctgatgaaacaatggcaaAgacctccaaggtgaaattgaagctcacacag
agtaaaagagctgatgaaacaatggcAAAgacctccaaggtgaaattgaagctcacacag

2737 c.8209_8210dup CACA
1

ccaagggagtaaaagagctgatgaaacaCAatggcaagacctccaaggtgaaattgaagc
ccaagggagtaaaagagctgatgaaaCACAatggcaagacctccaaggtgaaattgaagc

2724 c.8171dup TT
1

ctacaggatgctacccgtaaggaaaggctTcctagaagactccaagggagtaaaagagct
ctacaggatgctacccgtaaggaaaggcTTcctagaagactccaagggagtaaaagagct

2762 c.8284dup AAAAAAA
1

caacctggatgaaaacagccaaaaaaAtcctgagatccctggaaggttccgatgatgcag
caacctggatgaaaacagccAAAAAAAtcctgagatccctggaaggttccgatgatgcag

296 c.887dup TTT
1

agagaacttcttcccctaagcctcgattTcaagagctatgcctacacacaggctgcttat
agagaacttcttcccctaagcctcgaTTTcaagagctatgcctacacacaggctgcttat

2972 c.8912_8913dup TCTCTCTC
1

tgggcgatctcctcattgactctctcTCcaagatcacctcgagaaagtcaaggcacttcg
tgggcgatctcctcattgacTCTCTCTCcaagatcacctcgagaaagtcaaggcacttcg

2986 c.8955dup TTT
1

gaaagtcaaggcacttcgaggagaaattTgcgcctctgaaagagaacgtgagccacgtca
gaaagtcaaggcacttcgaggagaaaTTTgcgcctctgaaagagaacgtgagccacgtca

3010 c.9028dup TC
1

agcttaccactttgggcattcagctctTcaccgtataacctcagcactctggaagacctg
agcttaccactttgggcattcagcTCtTCaccgtataacctcagcactctggaagacctg

3035 c.9097_9103dup GACCGAG
1

gcaggtggccgtcgaggaccgagGACCGAGtcaggcagctgcatgaagcccacagggact
gcaggtggccgtcgagGACCGAGGACCGAGtcaggcagctgcatgaagcccacagggact

3053 c.9156dup TTTT
1

ggactttggtccagcatctcagcactttTctttccacgtctgtccagggtccctgggaga
ggactttggtccagcatctcagcacTTTTctttccacgtctgtccagggtccctgggaga

3134 c.9400dup GGG
1

agcctgtcagctgcatgtgatgccttggGaccagcacaacctcaagcaaaatgaccagcc
agcctgtcagctgcatgtgatgccttGGGaccagcacaacctcaagcaaaatgaccagcc

2540 c.7619insG GA
1

attaccgctgcccaaaatttgaaaaacaGagaccagcaatcaagaggctagaacaatcat
attaccgctgcccaaaatttgaaaaacaGAGAccagcaatcaagaggctagaacaatcat

2337 c.7009_7010dup TTTT
1

aaaagcttgaagaccttgaagagcagttTTaaatcatctgctgctgtggttatctcctat
aaaagcttgaagaccttgaagagcagTTTTaaatcatctgctgctgtggttatctcctat

2316 c.6946dup AAAA
1

agagctttacctgagaaacaaggagaaaAttgaagctcaaataaaagaccttgggcagct
agagctttacctgagaaacaaggagAAAAttgaagctcaaataaaagaccttgggcagct

2283 c.6848dup TT
1

ggaggacccgtgcttgtaagtgctcccatTaagcccagaagagcaagataaacttgaaaa
ggaggacccgtgcttgtaagtgctcccaTTaagcccagaagagcaagataaacttgaaaa

2283 c.6843_6846dup TCCCTCCC
1

gaggacccgtgcttgtaagtgctcccTCCCataagcccagaagagcaagataaacttgaa
gaggacccgtgcttgtaagtgcTCCCTCCCataagcccagaagagcaagataaacttgaa

2252 c.6754dup CAAGT
1

cagcaactaaaagaaaagcttgagcCaagtcaagttactggtggaagagttgcccctgcg
cagcaactaaaagaaaagcttgagcCAAGTCAAGTtactggtggaagagttgcccctgcg

3343 c.10027dup TTTTTTTT
1

tgacatctgccaaagctgctttttttTctggtcgagttgcaaaaggccataaaatgcact
tgacatctgccaaagctgcTTTTTTTTctggtcgagttgcaaaaggccataaaatgcact

2185 c.6554dup TTT
1

cagatgccagtattctacaggaaaaattTgggaagcctgaatctgcggtggcaggaggtc
cagatgccagtattctacaggaaaaaTTTgggaagcctgaatctgcggtggcaggaggtc

215 c.644dup CCC
1

aattaggcatagagaaactactcgatccCtgaagatgttgataccacctatccagataag
aattaggcatagagaaactactcgatCCCtgaagatgttgataccacctatccagataag

2144 c.6430dup TT
1

gaattgggaacatgctaaatacaaatggtTatcttaaggaactccaggatggcattgggc
gaattgggaacatgctaaatacaaatggTTatcttaaggaactccaggatggcattgggc

2131 c.6391_6392dup CACACA
1

agctgaacagtttctcagaaagacacaCAaattcctgagaattgggaacatgctaaatac
agctgaacagtttctcagaaagaCACACAaattcctgagaattgggaacatgctaaatac

1901 c.5700dup AGCC
1

gcttggatgacattgaaaaaaaattaAgccagcctacctgagcccagagatgaaaggaaa
gcttggatgacattgaaaaaaaattaAGCCAGCCtacctgagcccagagatgaaaggaaa

1865 c.5592dup GG
1

agacaaaacataatgctctcaaggatttgGaggtctcaaagaagaaaaaaggctctagaa
agacaaaacataatgctctcaaggatttGGaggtctcaaagaagaaaaaaggctctagaa

1835 c.5503dup CAA
1

aattgttgcaaagaggagacaacttacCaacaaagaatcacagatgagagaaagagagag
aattgttgcaaagaggagacaacttacCAACAAagaatcacagatgagagaaagagagag

1813 c.5434_5437dup TTCATTCA
1

ggtgaatctgaaagaggaagacttcaTTCAataaagatatgaatgaagacaatgagggta
ggtgaatctgaaagaggaagacTTCATTCAataaagatatgaatgaagacaatgagggta

1789 c.5364dup AA
1

ctttgaaggaattggagcagtttaactcaAgatatacaaaaattgcttgaaccactggag
ctttgaaggaattggagcagtttaactcAAgatatacaaaaattgcttgaaccactggag

1768 c.5299_5302dup ATTTATTT
1

gctcaaccatcgatttgcagccatttATTTcacacagaattaagactggaaaggcctcca
gctcaaccatcgatttgcagccATTTATTTcacacagaattaagactggaaaggcctcca

1674 c.5020_5021dup TTTTTT
1

ccgagcagaagagtggttaaatcttttTTgttggaataccagaaacacatggaaactttt
ccgagcagaagagtggttaaatcTTTTTTgttggaataccagaaacacatggaaactttt

1668 c.5000_5001dup CACA
1

taactggatagctgtcacctcccgagcaCAgaagagtggttaaatcttttgttggaatac
taactggatagctgtcacctcccgagCACAgaagagtggttaaatcttttgttggaatac

163 c.485_486dup GCGC
1

ggttaatgtaatcaacttcaccaccagcGCtggtctgatggcctggctttgaatgctctc
ggttaatgtaatcaacttcaccaccaGCGCtggtctgatggcctggctttgaatgctctc

152 c.455dup CA
1

gggtccgacaatcaactcgtaattatccCacaggttaatgtaatcaacttcaccaccagc
gggtccgacaatcaactcgtaattatccCACAggttaatgtaatcaacttcaccaccagc

1455 c.4363dup TC
1

ttgcacagaaaaaattacaagatgtctTccatgaagtttcgattattccagaaaccagcc
ttgcacagaaaaaattacaagatgTCtTCcatgaagtttcgattattccagaaaccagcc

1305 c.3914dup TT
1

cctggcggagctgaggaaatctctgaggtTgctagattcacttgaaaatttgatgcgaca
cctggcggagctgaggaaatctctgaggTTgctagattcacttgaaaatttgatgcgaca

1256 c.3765dup TT
1

actaccagtggctctgcactaggctgaatTgggaaatgcaagactttggaagaagtttgg
actaccagtggctctgcactaggctgaaTTgggaaatgcaagactttggaagaagtttgg

1243 c.3728dup TT
1

gaggccttaaaaaaggaacttgaaactctTaaccaccaactaccagtggctctgcactag
gaggccttaaaaaaggaacttgaaactcTTaaccaccaactaccagtggctctgcactag

123 c.368dup TT
1

ataatcctccactggcaggtcaaaaatgtTaatgaaaaatatcatggctggattgcaaca
ataatcctccactggcaggtcaaaaatgTTaatgaaaaatatcatggctggattgcaaca

1189 c.3565dup AAAAA
1

atcttgagagagattttgaatataaaaActccagatgaattacagaaagcagttgaagag
atcttgagagagattttgaatatAAAAActccagatgaattacagaaagcagttgaagag

1180 c.3530_3538dup AAGAAGAGT
1

tgacacaagctgaagaagagtAAGAAGAGTatcttgagagagattttgaatataaaactc
tgacacaagctgAAGAAGAGTAAGAAGAGTatcttgagagagattttgaatataaaactc

1104 c.3309dup CCCC
1

agtcagtgatattcagacaattcagcccCagtctaaacagtgtcaatgaaggtgggcaga
agtcagtgatattcagacaattcagCCCCagtctaaacagtgtcaatgaaggtgggcaga

1089 c.3267insC CA
1

attcagaaattctaaaaaagcagctgaaCacagtgcagacttttagtcagtgatattcag
attcagaaattctaaaaaagcagctgaaCACAgtgcagacttttagtcagtgatattcag

1068 c.3203insTT TT
1

ccctgaagaaatggatggctgaagttgTTatgtttttctgaaggaggaatggcctgccct
ccctgaagaaatggatggctgaagTTgTTatgtttttctgaaggaggaatggcctgccct

1036 c.3107dup TT
1

ggacgctggaagaagctctcctcccagctTggttgagcattgtcaaaagctagaggagca
ggacgctggaagaagctctcctcccagcTTggttgagcattgtcaaaagctagaggagca

102 c.305dup GGG
1

atattggaagtactgacatcgtagatggGaaatcataaactgactcttggtttgatttgg
atattggaagtactgacatcgtagatGGGaaatcataaactgactcttggtttgatttgg

977 c.2929dup CC
1

tagtgtcaccgactatgaaatcatggagcCagagactcggggaattgcaggctttacaaa
tagtgtcaccgactatgaaatcatggagCCagagactcggggaattgcaggctttacaaa

937 c.2808dup TTTTTT
1

agagagaaagagctacagacaatttttTgacactttgccaccaatgcgctatcaggagac
agagagaaagagctacagacaaTTTTTTgacactttgccaccaatgcgctatcaggagac

905 c.2712dup CCCC
1

agccctgaaagagaaaggacaaggacccCatgttcctggatgcagactttgtggccttta
agccctgaaagagaaaggacaaggaCCCCatgttcctggatgcagactttgtggccttta

880 c.2624_2637dup ATGAAGTCAACCGG
1

ggatgaagtcaaccggATGAAGTCAACCGGctatcaggtcttcaacctcaaattgaacga
ggATGAAGTCAACCGGATGAAGTCAACCGGctatcaggtcttcaacctcaaattgaacga

855 c.2562_2563dup AAAAAA
1

caactactgctgaaaactggttgaaaaAAtccaacccaccaccccatcagagccaacagc
caactactgctgaaaactggttgAAAAAAtccaacccaccaccccatcagagccaacagc

824 c.2469dup TTT
1

attctgccagttgctaagtgagagacttTaactggctggagtatcagaacaacatcatcg
attctgccagttgctaagtgagagacTTTaactggctggagtatcagaacaacatcatcg

80 c.238dup GGG
1

gttcatgccctgaacaatgtcaacaaggGcactgcgggttttgcagaacaataatgttga
gttcatgccctgaacaatgtcaacaaGGGcactgcgggttttgcagaacaataatgttga

3202 c.9592_9604dup TCTTTTAAAACTG
1

cctgtcttttaaaactgTCTTTTAAAACTGgcatcatttccctgtgtaaagcacatttgg
cctgTCTTTTAAAACTGTCTTTTAAAACTGgcatcatttccctgtgtaaagcacatttgg

323 c.967dup GGG
1

cggagcccatttccttcacagcatttggGaagctcctgaagacaagtcatttggcagttc
cggagcccatttccttcacagcatttGGGaagctcctgaagacaagtcatttggcagttc

3225 c.9673insG GT
1

cagataccttttcaagcaagtggcaagtGtcaacaggattttgtgaccagcgcaggctgg
cagataccttttcaagcaagtggcaaGTGTcaacaggattttgtgaccagcgcaggctgg

3270 c.9806_9807dup TTTT
1

gccaagtgtccggagctgcttccaatttTTgctaataataagccagagatcgaagcggcc
gccaagtgtccggagctgcttccaatTTTTgctaataataagccagagatcgaagcggcc

3273 c.9816dup TAA
1

ggagctgcttccaatttgctaataatTaagccagagatcgaagcggccctcttcctagac
ggagctgcttccaatttgctaaTAAtTAAgccagagatcgaagcggccctcttcctagac

692 c.2074dup GGGG
1

gaaacagtaactacggtgaccacaagggGaacagatcctggtaaagcatgctcaagagga
gaaacagtaactacggtgaccacaaGGGGaacagatcctggtaaagcatgctcaagagga

65 c.192dup AAAAA
1

ggcctgacagggcaaaaactgccaaaaAgaaaaaggatccacaagagttcatgccctgaa
ggcctgacagggcaaaaactgccAAAAAgaaaaaggatccacaagagttcatgccctgaa

635 c.1900_1903dup AAGTAAGT
1

tcttctttcaacactgaagaataagtAAGTcagtgacccagaagacggaagcatggctgg
tcttctttcaacactgaagaatAAGTAAGTcagtgacccagaagacggaagcatggctgg

633 c.1898insT TA
1

aaacaagatcttctttcaacactgaagaTataagtcagtgacccagaagacggaagcatg
aaacaagatcttctttcaacactgaagaTATAagtcagtgacccagaagacggaagcatg

612 c.1835dup AGAAAA
1

cgttttaaaagcggatctagaaaaAgaaaaagcaatccatgggcaaactgtattcactca
cgttttaaaagcggatctAGAAAAAGAAAAagcaatccatgggcaaactgtattcactca

62 c.183dup AAAAAA
1

ctcctcgaaggcctgacagggcaaaaaActgccaaaagaaaaaggatccacaagagttca
ctcctcgaaggcctgacagggcAAAAAActgccaaaagaaaaaggatccacaagagttca

60 c.177dup GGGG
1

cctagacctcctcgaaggcctgacagggGcaaaaactgccaaaagaaaaaggatccacaa
cctagacctcctcgaaggcctgacaGGGGcaaaaactgccaaaagaaaaaggatccacaa

588 c.1760_1761dup CACACACA
1

aagatgcagtgaacaagattcacacaCAactggctttaaagatcaaaatgaaatgttatc
aagatgcagtgaacaagattCACACACAactggctttaaagatcaaaatgaaatgttatc

579 c.1734dup AAAAAA
1

ctttttagtgcatggctttcagaaaaaAgaagatgcagtgaacaagattcacacaactgg
ctttttagtgcatggctttcagAAAAAAgaagatgcagtgaacaagattcacacaactgg

551 c.1651dup TT
1

aaacatctgtagatggacagaagaccgctTgggttcttttacaagacatccttctcaaat
aaacatctgtagatggacagaagaccgcTTgggttcttttacaagacatccttctcaaat

52 c.154dup GG
1

tgacctacaggatgggaggcgcctcctagGacctcctcgaaggcctgacagggcaaaaac
tgacctacaggatgggaggcgcctcctaGGacctcctcgaaggcctgacagggcaaaaac

515 c.1544dup TGGT
1

gtcaattctctcactcacatggtggtTggtagttgatgaatctagtggagatcacgcaac
gtcaattctctcactcacatggTGGTTGGTagttgatgaatctagtggagatcacgcaac

515 c.1543dup GT
1

gggtcaattctctcactcacatggtggGtggtagttgatgaatctagtggagatcacgca
gggtcaattctctcactcacatggtggGTgGTagttgatgaatctagtggagatcacgca

476 c.1426dup GGG
1

acagaagaaagaacaaggaaaatggaggGaagagcctcttggacctgatcttgaagacct
acagaagaaagaacaaggaaaatggaGGGaagagcctcttggacctgatcttgaagacct

48 c.141dup GGGG
1

gaacctcttcagtgacctacaggatgggGaggcgcctcctagacctcctcgaaggcctga
gaacctcttcagtgacctacaggatGGGGaggcgcctcctagacctcctcgaaggcctga

436 c.1306dup GGGG
1

ctaaattcaagatgggaatgcctcagggGtagctagcatggaaaaacaaagcaatttaca
ctaaattcaagatgggaatgcctcaGGGGtagctagcatggaaaaacaaagcaatttaca

431 c.1290dup AA
1

aagagcagatgaatctcctaaattcaagaAtgggaatgcctcagggtagctagcatggaa
aagagcagatgaatctcctaaattcaagAAtgggaatgcctcagggtagctagcatggaa

44 c.127_130dup GACCGACC
1

gcatattgagaacctcttcagtgaccGACCtacaggatgggaggcgcctcctagacctcc
gcatattgagaacctcttcagtGACCGACCtacaggatgggaggcgcctcctagacctcc

42 c.125dup GG
1

gggaagcagcatattgagaacctcttcagGtgacctacaggatgggaggcgcctcctaga
gggaagcagcatattgagaacctcttcaGGtgacctacaggatgggaggcgcctcctaga

402 c.1205dup TTT
1

agggccgggttggtaatattctacaattTgggaagtaagctgattggaacaggaaaatta
agggccgggttggtaatattctacaaTTTgggaagtaagctgattggaacaggaaaatta

39 c.116dup AAA
1

ctaagtttgggaagcagcatattgagaaAcctcttcagtgacctacaggatgggaggcgc
ctaagtttgggaagcagcatattgagAAAcctcttcagtgacctacaggatgggaggcgc

385 c.1152dup GGGGG
1

aaagaccagtttcatactcatgaggggGtacatgatggatttgacagcccatcagggccg
aaagaccagtttcatactcatgaGGGGGtacatgatggatttgacagcccatcagggccg

3535 c.10602dup AAAA
1

ccgtctaaagcagcagcacgaacataaaAggcctgtccccactgccgtcccctcctgaaa
ccgtctaaagcagcagcacgaacatAAAAggcctgtccccactgccgtcccctcctgaaa

3485 c.10454dup TT
1

tgccaaagtttgaaccaggactcccccctTgagccagcctcgtagtcctgcccagatctt
tgccaaagtttgaaccaggactccccccTTgagccagcctcgtagtcctgcccagatctt

3378 c.10133dup AAAAAAA
1

cgagactttgccaaggtactaaaaaaAcaaatttcgaaccaaaaggtattttgcgaagca
cgagactttgccaaggtactAAAAAAAcaaatttcgaaccaaaaggtattttgcgaagca