Polymorphisms flanking the insulin minisatellite
The sequence shown from 3´ tyrosine hydroxylase
(TH) to 5´ IGF2 is derived from sequence L15440
published by Lucassen
et al. (1993) and was resequenced to identify novel polymorphisms.
Pink text shows the sequences directly flanking and
including the minisatellite and was not resequenced.
Red text indicates positions polymorphic in humans
Blue text indicates exons
Primer sites are underlined (primer names in green).
Translated regions are indicated below the sequence,
with amino acid abbreviations aligned to the first position of each codon
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5F1 INS-1C/T
1 GAGCAGGGCTGGACCTGTGAGCCCAGGTCACAGATGAGAAAACCGACCCCTGGYTGCAGC 60
61 AGCCCCCACACAGCAGGGACACCATCCGTGAGAAGGACCCCAGCGTCTGGGGAGGGGCAG 120
121 ACCTACAGGACTGGGGGCTGCTGGGTGGCCGGGTCAAGGCCAGTCTTGGAGGTGCTGACA 180
INS-2A/G INS-3C/T
181 GAGCCTGAGCTTTGTGAGGACRTCCTGTGGAACCTGTCCCGGCCCCCTGYCCTGGGATGG 240
241 GGAGAAGTCAGGGGGATAGACAGAGTCAAGGTGGGGGACAGGGCGGGAGTGGGGTCCCCA 300
301 GGGCTGGGGGCCTTTGGTGCAGTGACCAGAGTGTCAGGAGAGGGGAGCAAAGCCCTCTAG 360
361 CCTCATCCTCATAAAAGGTCTCATCATTTTCCCTCCAGCCTCTTATGCACTGGGGAAACT 420
421 GAGGCCAGGGGCTATGTGTCCAGCGGACAGGGGTGCTGAATTCCACCCACAGGCTTAGGG 480
481 ATATGGTCAAGGAAAGCTTCCTGGAGGAGGCCCAGTGGAGGTTCAGGGAGGGATGGGGTG 540
5F2
541 CCCGGCAGTCTCTAGTGGAAAAGGCGCCTAGCCTATCTCCCCCATGAACCCCCTCACCCA 600
601 GCCCTGGAAGAGGCCTCAGTGTCCCGCCTGTGACCAGTTGGCTCAGAAAAGCCCTGGGAG 660
INS-4C/T
661 CTCTGAGCCACYGTGAAGGTGGAAACGCGGCCCCTGGCCTCCCCTCTCCTGGAGGCTGCA 720
TH exon 14
721 GACTCTGCCCGCCAGTTGACGAGGGCTCTGCCGCTCTCCTCCCCAGGAGCTATGCCTCAC 780
INS-5C/T
781 GCATCCAGCGCCCCTTCTCCGTGAAGTTCGACCCGTACACGCTGGCCATCGAYGTGCTGG 840
841 ACAGCCCCCAGGCCGTGCGGCGCTCCCTGGAGGGTGTCCAGGATGAGCTGGACACCCTTG 900
901 CCCATGCGCTGAGTGCCATTGGCTAGGTGCACGGCGTCCCTGAGGGCCCTTCCCAACCTC 960
961 CCCTGGTCCTGCACTGTCCCGGAGCTCAGGCCCTGGTGAGGGGCTGGGTCCCGGGTGCCC 1020
5F3
1021 CCCATGCCCTCCCTGCTGCCAGGCTCCCACTGCCCCTGCACCTGCTTCTCAGCGCAACAG 1080
1081 CTGTGTGTGCCCGTGGTGAGGTTGTGCTGCCTGTGGTGAGGTCCTGTCCTGGCTCCCAGG 1140
1141 GTCCTGGGGGCTGCTGCACTGCCCTCCGCCCTTCCCTGACACTGTCTGCTGCCCCAATCA 1200
INS-6A/G
1201 CCRTCACAATAAAAGAAACTGTGGTCTCTACACCTGCCTGGCCCCACATCTGTGCCACAG 1260
INS-7C/G
1261 ASACAGACCCTGGGATCCTCAGACTCCCACACCCCCACCCCAGCCTCACTCAGAGGTTTC 1320
1321 GCCCTGGCCTCCTTCCTCCTCTGGGAGATGGCTGGCCGCCCTGGCCAGGCAGCTGGCCCC 1380
1381 TCCGGGCCTGGTTTCCCCGCTCACCCTGAGGCCCCGCCCAGCTCTGAGCCCCAAGCAGCT 1440
1441 CCAGAGGCTCGGGCACCCTGGCCGAGCTGCCCCATCTCCGTGGGGTGCCCTCCCAAGGTG 1500
INS-9A/C
1501 GGGAGCCACGTGACAGTGGGAGGGCCTCTCTCAGGCCTGGMAGGGAGCAGGGGTCACAAA 1560
1561 CTGTGCTGGCTGGGGGTGGTCTCAGAGGTGGGCCTGCAGGCCTAACCCTCCCTGCTGACA 1620
5F4
1621 GGGCTCCCAGCCCTTGAGAGAAACAGGGATGGAGGAACAGCTGCCCTGATGCCCTCACCC 1680
1681 ACCCGGAGCAGGCCCTGCGAACCAAGGGGAACCTCAGTGTGGCCCCCAGCATGTGTGCTG 1740
1741 ATGGGGAGGGTCTGGCTGAGCTGGTGCCCAGGCAGATGGTCTGGGCCTGTCTCCCCAGCG 1800
1801 AGGCAGGATGGGGGCTGGATTTCAGACTCTGTAAGATGCCCCTGGCTTACTCGAGGGGCC 1860
1861 TGGACATTGCCCTCCAGAGAGAGCACCCAACACCCTCCAGGCTTGACCGGCCAGGGTGTC 1920
1921 CCCTTCCTACCTTGGAGAGAGCAGCCCCAGGGCATCCTGCAGGGGGTGCTGGGACACCAG 1980
INS-10C/T
1981 CTGGCCTTCAAGGTCTCTGCCTCCCTCCAGCCACCCCACTACAYGCTGCTGGGATCCTGG 2040
INS-11C/T
2041 ATCTCAGCTCCCYGGCCGACAACACTGGCAAACTCCTACTCATCCACGAAGGCCCTCCTG 2100
2101 GGCATGGTGGTCCTTCCCAGCCTGGCAGTCTGTTCCTCACACACCTTGTTAGTGCCCAGC 2160
5F5
2161 CCCTGAGGTTGCAGCTGGGGGTGTCTCTGAAGGGCTGTGAGCCCCCAGGAAGCCCTGGGG 2220
2221 AAGTGCCTGCCTTGCCTCCCCCCGGCCCTGCCAGCGCCTGGCTCTGCCCTCCTACCTGGG 2280
INS-12C/T
2281 CTCCCCCYATCCAGCCTCCCTCCCTACACACTCCTCTCAAGGAGGCACCCATGTCCTCTC 2340
2341 CAGCTGCCGGGCCTCAGAGCACTGTGGCGTCCTGGGGCAGCCACCGCATGTCCTGCTGTG 2400
INS-14C/T
2401 GCATGGCTCAGGGTGGAAAGGGYGGAAGGGAGGGGTCCTGCAGATAGCTGGTGCCCACTA 2460
2461 CCAAACCCGCTCGGGGCAGGAGAGCCAAAGGCTGGGTGTGTGCAGAGCGGCCCCGAGAGG 2520
INS-16A/G
2521 TTCCGAGGCTRAGGCCAGGGTGGGACATAGGGATGCGAGGGGCCGGGGCACAGGATACTC 2580
2581 CAACCTGCCTGCCCCCATGGTCTCATCCTCCTGCTTCTGGGACCTCCTGATCCTGCCCCT 2640
5F6
2641 GGTGCTAAGAGGCAGGTAGGGGCTGCAGGCAGCAGGGCTCGGAGCCCATGCCCCCTCACC 2700
2701 ATGGGTCAGGCTGGACCTCCAGGTGCCTGTTCTGGGGAGCTGGGAGGGCCGGAGGGGTGT 2760
INS-17A/T
2761 ACCCCAGGGGCTCAGCCCAGATGACACTATGGGGGTGATGGTGTCAWGGGACCTGGCCAG 2820
2821 GAGAGGGGAGATGGGCTCCCAGAAGAGGAGTGGGGGCTGAGAGGGTGCCTGGGGGGCCAG 2880
INS-18A/G
2881 GACGGAGCTGGGCCAGTGCACAGCTTCCCACACCTGCCCACCCCCAGAGTCCTGCCGCCR 2940
INS-19C/T INS-1296
2941 CCCCCAGATCACAYGGAAGATGAGGTCCGAGTGGCCTGCTGAGGACTTGCTGCTTGTCCC 3000
INS-20C/T
3001 CAGGTCCYCAGGTCATGCCCTCCTTCTGCCACCCTGGGGAGCTGAGGGCCTCAGCTGGGG 3060
3061 CTGCTGTCCTAAGGCAGGGTGGGAACTAGGCAGCCAGCAGGGAGGGGACCCCTCCCTCAC 3120
INS-21A/C 5R1
3121 TCCCMCTCTCCCACCCCCACCACCTTGGCCCATCCATGGCGGCATCTTGGGCCATCCGGG 3180
3181 A
CT
GGGGACAGGGGTCCT
GGGGACAGGGGTCC
GGGGACAGGGTCCT
GGGGACAGGGGTGT
GGGGACAGGGGTCT
GGGGACAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTCT
GGGGACAGGGGTGT
GGGGACAGGGGTCC
GGGGACAGGGGTGT
GGGGACAGGGGTCT
GGGGACAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTCT
GGGGACAGGGGTGT
GGGGACAGGGGTCCT
GGGGACAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTCCT
GGGGATAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTCCC
GGGGACAGGGGTGT
GGGGACAGGGGTGT
GGGGACAGGGGTCCT
GGGGACAGGGGTCT
GAGGACAGGGGTGT
GGGCACAGGGGTCCT
GGGGACAGGGGTCCT
GGGGACAGGGGTCCT
GGGGACAGGGGTCT
GGGGACAG
3F1
3676 CAGCGCAAAGAGCCCCGCCCTGCAGCCTCCAGCTCTCCTGGTCTA 3720
3721 ATGTGGAAAGTGGCCCAGGTGAGGGCTTTGCTCTCCTGGAGACATTTGCCCCCAGCTGTG 3780
3781 AGCAGGGACAGGTCTGGCCACCGGGCCCCTGGTTAAGACTCTAATGACCCGCTGGTCCTG 3840
3841 AGGAAGAGGTGCTGACGACCAAGGAGATCTTCCCACAGACCCAGCACCAGGGAAATGGTC 3900
3901 CGGAAATTGCAGCCTCAGCCCCCAGCCATCTGCCGACCCCCCCACCCCAGGCCCTAATGG 3960
INS-24C/G INS-25A/G
3961 GCCAGGCGGCAGGGGTTGASAGGTAGRGGAGATGGGCTCTGAGACTATAAAGCCAGCGGG 4020
4021 GGCCCAGCAGCCCTCAGCCCTCCAGGACAGGCTGCATCAGAAGAGGCCATCAAGCAGGTC 4080
INS exon 1
INS-69+/- INS-26A/G
4081 TTTGCGTTCCAAGGGCCTTTGCGTCAGGTGGGCTCAGGRTTCCAGGGTGGCTGGACCCCAGGCC 4140
3F2
4141 CCAGCTCTGCAGCAGGGAGGACGTGGCTGGGCTCGTGAAGCATGTGGGGGTGAGCCCAGG 4200
INS exon 2
INS-27A/T INS-23+/-
4201 GGCCCCAAGGCAGGGCACCTGGCCTTCAGCCTGCCTCAGCCCTGCCTGTCWCCCAGATCA 4260
INS-72C/T INS-70A/G
4261 CTGTYCTTCTGCCATGGCCCTGTGGATGCGCCTCCTGCCCCTGCTGGCRCTGCTGGCCCT 4320
M A L W M R L L P L L A L L A L
4321 CTGGGGACCTGACCCAGCCGCAGCCTTTGTGAACCAACACCTGTGCGGCTCACACCTGGT 4380
W G P D P A A A F V N Q H L C G S H L V
3R4 3F8
4381 GGAAGCTCTCTACCTAGTGTGCGGGGAACGAGGCTTCTTCTACACACCCAAGACCCGCCG 4440
E A L Y L V C G E R G F F Y T P K T R R
INS intron 1
INS-28C/T
4441 GGAGGCAGAGGACCTGCAGGGTGAGCCAACYGCCCATTGCTGCCCCTGGCCGCCCCCAGC 4500
E A E - - -
4501 CACCCCCTGCTCCTGGCGCTCCCACCCAGCATGGGCAGAAGGGGGCAGGAGGCTGCCACC 4560
4561 CAGCAGGGGGTCAGGTGCACTTTTTTAAAAAGAAGTTCTCTTGGTCACGTCCTAAAAGTG 4620
3F3
4621 ACCAGCTCCCTGTGGCCCAGTCAGAATCTCAGCCTGAGGACGGTGTTGGCTTCGGCAGCC 4680
INS-31C/T
4681 CCGAGATACATCAGAGGGTGGGCAYGCTCCTCCCTCCACTCGCCCCTCAAACAAATGCCC 4740
4741 CGCAGCCCATTTCTCCACCCTCATTTGATGACCGCAGATTCAAGTGTTTTGTTAAGTAAA 4800
INS-32C/T
4801 GTCCTGGGTGACCTGGGGTCACAGGGTGCCCCACGCTGCCTGCCTCYGGGCGAACACCCC 4860
4861 ATCACGCCCGGAGGAGGGCGTGGCTGCCTGCCTGAGTGGGCCAGACCCCTGTCGCCAGGC 4920
4921 CTCACGGCAGCTCCATAGTCAGGAGATGGGGAAGATGCTGGGGACAGGCCCTGGGGAGAA 4980
4981 GTACTGGGATCACCTGTTCAGGCTCCCACTGTGACGCTGCCCCGGGGCGGGGGAAGGAGG 5040
INS-34C/G 3F4
5041 TGGGACATGTGGGCGTTGGGGCCTGTAGGTCCACACCCASTGTGGGTGACCCTCCCTCTA 5100
INS-35C/T
5101 ACCTGGGTCCAGCCCGGCTGGAGATGGGTGGGAGTGYGACCTAGGGCTGGCGGGCAGGCG 5160
INS-36A/G
5161 GGCACTGTGTCTCCCTGACTGTGTCCTCCTGTGTCCCTCTGCCTCGCCRCTGTTCCGGAA 5220
INS-37C/T INS exon 2
5221 CCTGCTCTGCGYGGCACGTCCTGGCAGTGGGGCAGGTGGAGCTGGGCGGGGGCCCTGGTG 5280
V G Q V E L G G G P G A
5281 CAGGCAGCCTGCAGCCCTTGGCCCTGGAGGGGTCCCTGCAGAAGCGTGGCATTGTGGAAC 5340
G S L Q P L A L E G S L Q K R G I V E Q
5341 AATGCTGTACCAGCATCTGCTCCCTCTACCAGCTGGAGAACTACTGCAACTAGACGCAGC 5400
C C T S I C S L Y Q L E N Y C N
INS-38C/T INS-39A/C
5401 CYGCAGGCAGCCCCMCACCCGCCGCCTCCTGCACCGAGAGAGATGGAATAAAGCCCTTGA 5460
5461 ACCAGCCCTGCTGTGCCGTCTGTGTGTCTTGGGGGCCCTGGGCCAAGCCCCACTTCCCGG 5520
3F5
5521 CACTGTTGTGAGCCCCTCCCAGCTCTCTCCACGCTCTCTGGGTGCCCACAGGTGCCAACG 5580
INS-40C/T
5581 CCGGCCAGGCCCAGCATGCAGTGGCTCTCCCCAAAGCGGCCATGCCTGTYGGCTGCCTGC 5640
INS-41G/T
5641 TGCCCCCACCCTGTGGCTCAGGGTCCAGTATGGGAGCTKCGGGGGTCTCTGAGGGGCCAG 5700
INS-42A/G
5701 GGRTGGTGGGGCCACTGAGAAGTGACTTCTTGTTCAGTAGCTCTGGACTCTTGGAGTCCC 5760
5761 CAGAGACCTTGTTCAGGAAAGGGAATGAGAACATTCCAGCAATTTTCCCCCCACCTAGCC 5820
5821 CTCCCAGGTTCTATTTTTAGAGTTATTTCTGATGGAGTCCCTGTGGAGGGAGGAGGCTGG 5880
5881 GCTGAGGGAGGGGGTCCTGCAGGGCGGGGGGCTGGGAAGGTGGGGAGAGGCTGCCGAGAG 5940
5941 CCACCCGCTATCCCCAGCTCTGGGCAGCCCCGGGACAGTCACACACCCTGGCCTCGCGGC 6000
3F6
6001 CCAAGCTGGCAGCCGTCTGCAGCCACAGTATGCCAGCCCAGGTCCAGCCAGACACCTGAG 6060
3F6-NEST
6061 GGACCCACTGGTGCCTTGGAGGAAGCAGGAGAGGTCAGATGGCACCATGAGCTGGGGCAG 6120
6121 GTGCAGGGACCGTGGCAGCACCTGGCAGGGCCTCAGAACCCATGCCTTGGGCACCCCGGC 6180
3R5 3R3
6181 CATGAGGCCCTGAGGATTGCAGCCCAGGAGAAGCAGGGAACCGCCAGGGCCACAGGGGCA 6240
INS-43C/G INS-45C/T
6241 GAGACCASGGCCAGGGTCCCCCTGCAGCCCCTTAGCCYACCCCCTCCCAGTAAGCAGGGC 6300
6301 TGCTTGGCTGGCTTCCTTTGCTACAGACCTGCTGCTCACCCAGAAGGGCCCACGGGCCCT 6360
6361 GGTGACAAGGTCGTTGTGGCTCCAGGTCCTTGGGGGTCCTGACACAGAGCCTCTTCTGCA 6420
6421 GCACCCCTGAGGACAGGGTGGCTCCGCTGGGCACCCAGCCTAGTGGGCAGACGAGAACCT 6480
6481 AGGGGCTGCCTGGGCCTACTGTGGCCTGGGAGGTCAGCGGGTGACCCTAGCTACCCTGTG 6540
6541 GCTGGGCCAGTCTGCCTGCCACCCAGGCCAAACCAATCTGCACCTTTCCTGAGAGCTCCA 6600
INS-49A/T INS-71+/-
6601 CCCWGGGCTGGGCTGGGGATGGCTGGGCCTGGGGCTGGCATGGGCTGTGGCTGCAGACCA 6660
6661 CTGCCAGCTTGGGCCTCGAGGCCAGGAGCTCACCCTCCAGCTGGGGACCTGGCCACTGGG 6720
6721 GCAGCCCTGTTCCTGAAGCTCTGAGCTCACCCCTTCCCCATGACCACATCAGCCCCCCTC 6780
6781 CACCCAGAGATGTCACAGCCCCCAGCTAGCCCCGCCTCCAGAGTGGGGGCCAAGGCTGGG 6840
IGF2 exon 1 (5´UTR)
6841 CAGGCGGGTGGACGGCCGGACACTGGCCCCGGAAGAGGAGGGAGGCGGTGGCTGGGATCG 6900
6901 GCAGCAGCCGTCCATGGGAACACCCAGCCGGCCCCACTCGCACGGGTAGAGACAGGGGCG 6960
3F7 IGF2 Intron 1
6961 CCCTGCTGGAGCTGAGGTATGTGAGCTCGCGCGGGGCTGGGCCAAAGCGGGGCCCGGTGG 7020
3R2
7021 GCCGGCTGGGAGGCTGCCCACCAGTCAGCCATCGGCCAAGCTGTTGCCCTGGCTGACCCT 7080
INS-51C/G
7081 GATGGCCAACAAGGCCGTAGGGAGTGATGGGCAGAGGCCCSTTCTGGGAGGGGAGGGTCA 7140
INS-52A/G
7141 GTGCTCTGTGGGGGACCGTRTGTTGGAGTGGAGGGCAGCAGGAGGAGCCCTTTGGTGTCC 7200
7201 AGGGACTCCTGGAGCTGCCCCAGCCTTCCAGGACTTGCAGGGCAGCTGGCACTGGCTGGT 7260
INS-53A/C INS-54C/T
7261 GCTGGGGGMTGAGGAGTGTCTTYTGAGGGGCCAAATTTTCTGTGACTTCTGTCCTGGGGG 7320
INS-73C/T
7321 ACCTCTGACCTGAGGCCTCAGGAGAGGGCAAGGCYGCCCACCCAAAAGAGATGCAGCCAT 7380
INS-56A/G
7381 GGTTCGCGGTGCCCTCGGCTGCCCTGGRCCAGAGCTGGGGCTAGCTTTCACCTTGTTGAG 7440
INS-74A/G
7441 ACCCAGGACTCTGTCCCCCAAGCCTGTCTTCGCCAGCRCCTTGACCCCACCCCTCATATA 7500
INS-57A/G
7501 CTGTGTCCTGGAAAACGTGGACACGGGAGACCRCAGCCAGGGCGAGGTATCGCCCCTCCA 7560
INS-60A/G
7561 TCCCCCCAGGCCCAATGAGAARCAGTTGGCCAAGGTGATCCAGGTGGCAGAGGCAGCATC 7620
7621 AGACCCAGTCTCCTGTCAGGCACCACCTTGGGTGCCGGTCCCCAGATGCCCTGGCGGGGA 7680
7681 GTGTGCATGCTCCCGGAGCCCCCAGGTCACCCCATGTGAGCCAGGCCCACAGAGCTTGGC 7740
7741 TCTGCAATGCCTGCTGGGCTGCTGCCCATGCTCCACCCCTTCTGGGAAGCTAAAAGACAG 7800
INS-64C/G INS-66C/T
INS-63C/T INS-65C/T INS-67A/G
7801 CCYTTCAGTGTCCAGAGACCTGCCTGGCCTTGGAGCCTSGGYTTCACATGCCCACYRGGC 7860
INS-68A/G 3R1-NEST
7861 TGGCAGGGGCACTCAGCTGCCTCCAGCCCCRGCGGTCACCCTGGCATTGGGTCCATCTAA 7920
3R1
7921 CTGCTCCCCAGTCACAAG
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These pages provide supplementary information for the following publications:
Global haplotype diversity in the human insulin gene region. Stead, J.D.H., Hurles, M.E. and Jeffreys, A.J. Genome Res. 13, 2101-11 (2003)
Structural analysis of insulin minisatellite alleles reveals unusually large differences in diversity between Africans and non-Africans. Stead, J.D.H. and Jeffreys, A.J. Am. J. Hum. Genet. 71, 1273-84 (2002)
Influence of allele lineage on the role of the insulin minisatellite in susceptibility to type 1 diabetes. Stead, J.D.H., Buard, J., Todd, J.A. and Jeffreys, A.J. Hum. Mol. Genet., 9, 2929-2935 (2000).
Allele diversity and germline mutation at the insulin minisatellite. Stead, J.D.H. and Jeffreys, A.J. Hum. Mol. Genet., 9, 713-723 (2000).
If you refer to these data, please cite the relevant publication.
Last updated: 8 September, 2005
Celia A. May
The views expressed in this document are those of the document owner, John D.H. Stead.