(used for variant description)
(last modified April 3, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_003108.3 in the SOX11 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SOX11 transcript NM_003108.3.
(upstream sequence)
. . . . . g.5055
acctccgcacgagacccagcggcccgggttggagcgtccagccctgcagcggatc c.-1
. . . . . . g.5115
ATGGTGCAGCAGGCGGAGAGCTTGGAAGCGGAGAGCAACCTGCCCCGGGAGGCGCTGGAC c.60
M V Q Q A E S L E A E S N L P R E A L D p.20
. . . . . . g.5175
ACGGAGGAGGGCGAATTCATGGCTTGCAGCCCGGTGGCCCTGGACGAGAGCGACCCAGAC c.120
T E E G E F M A C S P V A L D E S D P D p.40
. . . . . . g.5235
TGGTGCAAGACGGCGTCGGGCCACATCAAGCGGCCGATGAACGCGTTCATGGTATGGTCC c.180
W C K T A S G H I K R P M N A F M V W S p.60
. . . . . . g.5295
AAGATCGAACGCAGGAAGATCATGGAGCAGTCTCCGGACATGCACAACGCCGAGATCTCC c.240
K I E R R K I M E Q S P D M H N A E I S p.80
. . . . . . g.5355
AAGAGGCTGGGCAAGCGCTGGAAAATGCTGAAGGACAGCGAGAAGATCCCGTTCATCCGG c.300
K R L G K R W K M L K D S E K I P F I R p.100
. . . . . . g.5415
GAGGCGGAGCGGCTGCGGCTCAAGCACATGGCCGACTACCCCGACTACAAGTACCGGCCC c.360
E A E R L R L K H M A D Y P D Y K Y R P p.120
. . . . . . g.5475
CGGAAAAAGCCCAAAATGGACCCCTCGGCCAAGCCCAGCGCCAGCCAGAGCCCAGAGAAG c.420
R K K P K M D P S A K P S A S Q S P E K p.140
. . . . . . g.5535
AGCGCGGCCGGCGGCGGCGGCGGGAGCGCGGGCGGAGGCGCGGGCGGTGCCAAGACCTCC c.480
S A A G G G G G S A G G G A G G A K T S p.160
. . . . . . g.5595
AAGGGCTCCAGCAAGAAATGCGGCAAGCTCAAGGCCCCCGCGGCCGCGGGCGCCAAGGCG c.540
K G S S K K C G K L K A P A A A G A K A p.180
. . . . . . g.5655
GGCGCGGGCAAGGCGGCCCAGTCCGGGGACTACGGGGGCGCGGGCGACGACTACGTGCTG c.600
G A G K A A Q S G D Y G G A G D D Y V L p.200
. . . . . . g.5715
GGCAGCCTGCGCGTGAGCGGCTCGGGCGGCGGCGGCGCGGGCAAGACGGTCAAGTGCGTG c.660
G S L R V S G S G G G G A G K T V K C V p.220
. . . . . . g.5775
TTTCTGGATGAGGACGACGACGACGACGACGACGACGACGAGCTGCAGCTGCAGATCAAA c.720
F L D E D D D D D D D D D E L Q L Q I K p.240
. . . . . . g.5835
CAGGAGCCGGACGAGGAGGACGAGGAACCACCGCACCAGCAGCTCCTGCAGCCGCCGGGG c.780
Q E P D E E D E E P P H Q Q L L Q P P G p.260
. . . . . . g.5895
CAGCAGCCGTCGCAGCTGCTGAGACGCTACAACGTCGCCAAAGTGCCCGCCAGCCCTACG c.840
Q Q P S Q L L R R Y N V A K V P A S P T p.280
. . . . . . g.5955
CTGAGCAGCTCGGCGGAGTCCCCCGAGGGAGCGAGCCTCTACGACGAGGTGCGGGCCGGC c.900
L S S S A E S P E G A S L Y D E V R A G p.300
. . . . . . g.6015
GCGACCTCGGGCGCCGGGGGCGGCAGCCGCCTCTACTACAGCTTCAAGAACATCACCAAG c.960
A T S G A G G G S R L Y Y S F K N I T K p.320
. . . . . . g.6075
CAGCACCCGCCGCCGCTCGCGCAGCCCGCGCTGTCGCCCGCGTCCTCGCGCTCGGTGTCC c.1020
Q H P P P L A Q P A L S P A S S R S V S p.340
. . . . . . g.6135
ACCTCCTCGTCCAGCAGCAGCGGCAGCAGCAGCGGCAGCAGCGGCGAGGACGCCGACGAC c.1080
T S S S S S S G S S S G S S G E D A D D p.360
. . . . . . g.6195
CTGATGTTCGACCTGAGCTTGAATTTCTCTCAAAGCGCGCACAGCGCCAGCGAGCAGCAG c.1140
L M F D L S L N F S Q S A H S A S E Q Q p.380
. . . . . . g.6255
CTGGGGGGCGGCGCGGCGGCCGGGAACCTGTCCCTGTCGCTGGTGGATAAGGATTTGGAT c.1200
L G G G A A A G N L S L S L V D K D L D p.400
. . . . . . g.6315
TCGTTCAGCGAGGGCAGCCTGGGCTCCCACTTCGAGTTCCCCGACTACTGCACGCCGGAG c.1260
S F S E G S L G S H F E F P D Y C T P E p.420
. . . . . . g.6375
CTGAGCGAGATGATCGCGGGGGACTGGCTGGAGGCGAACTTCTCCGACCTGGTGTTCACA c.1320
L S E M I A G D W L E A N F S D L V F T p.440
g.6381
TATTGA c.1326
Y X p.441
. . . . . . g.6441
aaggcgcccgctgctcgctctttctctcggagggtgcagagctgggttccttgggaggaa c.*60
. . . . . . g.6501
gttgtagtggtgatgatgatgatgataatgatgatgatgatggtggtgttgatggtggcg c.*120
. . . . . . g.6561
gtggtagggtggaggggagagaagaagatgctgatgatattgataagatgtcgtgacgca c.*180
. . . . . . g.6621
aagaaattggaaaacatgatgaaaattttggtggagttaaagtgaaatgagtagttttta c.*240
. . . . . . g.6681
aacatttttcctgtcctttttttgtcccccctcccttcctttatcgtgtctcaaggtagt c.*300
. . . . . . g.6741
tgcatacctagtctggagttgtgattattttcccaaaaaatgtgtttttgtaattactat c.*360
. . . . . . g.6801
ttctttttcctgaaattcgtgattgcaacaaaggcagagggggcggggcgggggagggga c.*420
. . . . . . g.6861
ggtaggacccgctccggaaggcgctgtttgaagcttgtcggtctttgaagtctggaagac c.*480
. . . . . . g.6921
gtctgcagaggacccttttggcagcacaactgttactctagggagttggtggagatattt c.*540
. . . . . . g.6981
ttttttcttaagagaacttaaagaactggtgatttttttttaacaaaaaaagggaccatt c.*600
. . . . . . g.7041
gcaacttttgttaatttaattttttttttttttttttttttttttttttttggagggaga c.*660
. . . . . . g.7101
aaactgatgtcttctatgcatccgattcttaacaaaactgcagggagcttgaaaaaatgc c.*720
. . . . . . g.7161
agactgtacaaacgcttacaaaaaaaaaaactgtgaactgacttaagatcagagtttact c.*780
. . . . . . g.7221
tttcagatcaaattgtttatggttttacaaatgtgatttctacttgccaacttttttttt c.*840
. . . . . . g.7281
gtaacttgttcccttatacctccttgattgaataccagacagcctagacctcagtacaaa c.*900
. . . . . . g.7341
aggtattgaaacatttttgatacataacagacctcagtcttttttaaaaattaatatatt c.*960
. . . . . . g.7401
ttcaggcgtatttttgtacagtgaaaagggaacattcttgctgtgttttttcagtaagac c.*1020
. . . . . . g.7461
tttcaggcacttcttcccttttgatttcttttttttcctctgttttttagcatgcaagta c.*1080
. . . . . . g.7521
tgttggtacgttatgtcctggtttaaaaaggattaaaattttaaaataatccttgcatct c.*1140
. . . . . . g.7581
aaaggccttgtggtttaaaaaaaaaaagcaaacttttttttgtacagctatagtagagat c.*1200
. . . . . . g.7641
ttgttcaatatttgtaggtaaagatttattgaaaatggtgatatagacctcagagctgtt c.*1260
. . . . . . g.7701
atcttagtttaaagattgtatatgtactgtactatagtaggactttatgtatctcatacg c.*1320
. . . . . . g.7761
ctgtgatgtggatggggccccagatggaaggtttgaaactggattctcgatttttagcaa c.*1380
. . . . . . g.7821
aaaagaaaaaaaaaaggcacatagtttaaaaagtttctcattttgtgcaatataatctaa c.*1440
. . . . . . g.7881
ataaagtacagaccatctgcatattttgtagcaaatggtggcaaagcagactcaatgcac c.*1500
. . . . . . g.7941
tgtcgacatcattgcctgtttttttttttttttttttgtgctggaagtctgtatcttgac c.*1560
. . . . . . g.8001
aattttaataaatcagctggaactgatagaaactcgcatcgccaatagtctctatggaag c.*1620
. . . . . . g.8061
tcaaactggaggtcctgttgtcgcagagcattcggtggtgaggctgttgtgtgcgcggat c.*1680
. . . . . . g.8121
gaggggaggtggcaggagagaattctacatttagggggttaggctgaaaagtgttcaatt c.*1740
. . . . . . g.8181
agcaggctgatttctttttcctcttccgctagttgtgaaagacaggggaagggtgttctt c.*1800
. . . . . . g.8241
tctctctgccctccctttccatctccagctccccatttcctttctcacctcctcctccac c.*1860
. . . . . . g.8301
tccctgcctcttctccccacccatcctggcgggcgggctgcgcggaggctcgggagctgg c.*1920
. . . . . . g.8361
ccggggaggggcggatggaggggcctgggttgccagctcccttggtcggggtcctgctcg c.*1980
. . . . . . g.8421
ctggggcttgtgtgttctctgcggcgggccgcgtccccgctgagcctcgcggtgacagcc c.*2040
. . . . . . g.8481
gcctttggcagcgagcgctcggggcacttctatccccgcctctcaaagggtggggacagc c.*2100
. . . . . . g.8541
cgtttccagatttgaattttttctgttctttatttttaacgctgcatcttcgcgtgtgct c.*2160
. . . . . . g.8601
cagaggtggttgttggcggagaacgccgccgcagtgtttgacctctagcggtgaaggggg c.*2220
. . . . . . g.8661
aaggggaagaggaaaggagagaagtggtcggtgtctgtttccttctgtcccccggggccg c.*2280
. . . . . . g.8721
tggagctgtcggagggaaggaggacggtgcggggccgcagggggcgcggggcgcggcggg c.*2340
. . . . . . g.8781
acccaggctacgagcgggagggaggcgggagtcgggggaagacgcggcaggccggccgag c.*2400
. . . . . . g.8841
ggcaccccgaggaacatggcatggcctctgtgcgatccgagtcgcggtctccggggtgcc c.*2460
. . . . . . g.8901
tgggagggccgaaccactggtgagggcgtggggagcagggggtggcagagggcacccggg c.*2520
. . . . . . g.8961
cggtagtccgggacgcgcaaggcagagccctgacgctccgggtccccgtgcctggctctt c.*2580
. . . . . . g.9021
cttgcctcgccaccgcgtgctcctgggcgcgccccgccgcgggcccttgaggcgcgcgga c.*2640
. . . . . . g.9081
gacaccagcgctggcttcccgggcccgcgggccggggagggaagcctcggggctgcgggg c.*2700
. . . . . . g.9141
tgagaggaagaaagcaaacccggggagcaggcggctgccgcacccgcgcaccccgggccc c.*2760
. . . . . . g.9201
tcaccacgccctccccgcgcgccggctcaggggctgccccggaatcagctccccggggcc c.*2820
. . . . . . g.9261
gccgcaacgaaggtggatccgcatcttgattgttctccgggagcctcctgggggctccgg c.*2880
. . . . . . g.9321
cggcggcgcgggcgcgacccatcccgctggcgctccccgctcgctgaaccccgtttgcct c.*2940
. . . . . . g.9381
gtccacaccccctcgctccccaccatttttcctgaccggcctgtgtccccgagccctcgc c.*3000
. . . . . . g.9441
ggcaggcccgagcaggcgatcgcggccgggcacgcgcgccccgggctcccgccccccttc c.*3060
. . . . . . g.9501
cgagcatccgccgcctcttttctgctgggtctgggaggagggaggctgggaggccgctcg c.*3120
. . . . . . g.9561
gggcccagcgtgccagccccggagttcagcctcccgagctgcggcgcccgcagcggagga c.*3180
. . . . . . g.9621
ggttttcagtggctgattgaaactcactgcaaaatcaccacgactctttcacctactgag c.*3240
. . . . . . g.9681
atgattgaccgaggtttggccttccatttttactgagatttggcgagaccgaatggaagc c.*3300
. . . . . . g.9741
gtccgcacagtaactgcagctgctaggccagaggggccccggcgcccttcccgcctcccc c.*3360
. . . . . . g.9801
tcccgcttgcttttgccttactcgatcttaccaccacccctcccccggccccccgactga c.*3420
. . . . . . g.9861
gaactcgggcctctcacccgccccccagcctcccgctctgggcgagcctcctccccagcc c.*3480
. . . . . . g.9921
cccacccctgggatgcgaagccagcaagcttttgctgcagatggacaggtttcttttctg c.*3540
. . . . . . g.9981
tggctttttcctttcgataaaccatcagatttcagtagtacatttgggaaaagaaggggc c.*3600
. . . . . . g.10041
tgatggcgttaaccaggttctcaatatagaactggatttctggagttgtttaccttaccc c.*3660
. . . . . . g.10101
cacaccccctcaacatgtagactaatgcagccattggtggtacatttattttagccacgg c.*3720
. . . . . . g.10161
ataattgaaccagcggtttacaattgacacgtgctccgtgctggtgattttatgtggcag c.*3780
. . . . . . g.10221
ccctctgctgcagttccgaaacttgttggcaacgtaaacccattgataggctgatctatg c.*3840
. . . . . . g.10281
tattttgaaagcctgaaaacttggcatgtcttttctgttttaatcatagatgaatcttgg c.*3900
. . . . . . g.10341
acattttctgtggtgaggtggaaactttaagtaaattagtaaagtaataatttggcttca c.*3960
. . . . . . g.10401
gaatgggaagagatagtcaagattttttttttttaaagccatgtggcctaacttgataca c.*4020
. . . . . . g.10461
aaaataaaagtaattgtttggcaatctaaatttaaaacctgttagaactcaggacaggcg c.*4080
. . . . . . g.10521
cttcaatgcgctttttaacaatatttaaggctgttttgatgagtgcgttgtgagaatcat c.*4140
. . . . . . g.10581
cttaatgaattctttattgagtgtctaaaacatagtataatacacatggtattcttgcca c.*4200
. . . . . . g.10641
ctggatagtcttcaataaaagtttaattgatttttttttgttggtctcttaagtaagtct c.*4260
. . . . . . g.10701
tatttttaactaagcattgacagaatatcttaaaatggtaacctgggggtggcgggtggg c.*4320
. . . . . . g.10761
tgctgtgtgcacggcagcctagccagtggggatcctgctgtttattataagtagttcaca c.*4380
. . . . . . g.10821
gactctgatggcattttggtaagctttccatctttaagaaattgaaccagcattctctta c.*4440
. . . . . . g.10881
ttaattctttaaactgtggaagtaatttccagttcttacactctgatacgcatccctttt c.*4500
. . . . . . g.10941
atttaaaaaaaaaaaaaatgctaataaaaggcagtgtacttaaactgtgctttgcaaata c.*4560
. . . . . . g.11001
ttgtgtatgttatgaatgactacagacactgggcaaattatttgtagaatgattatcctt c.*4620
. . . . . . g.11061
tagctagagaaagaaatcattacaactcttttgggcagagatgtttctttttaatgttaa c.*4680
. . . . . . g.11121
tcaaggggaagtgatttaaatatgcataaatgtagcagtcagggtgatttagttgctttt c.*4740
. . . . . . g.11181
ttcatgaaagaaaaagactcaaaagacaagacttatttttctcttctgggacttgaaatc c.*4800
. . . . . . g.11241
ataatcatctgatattagtacagtacaagaaatttacatttgttttttacttcagaattt c.*4860
. . . . . . g.11301
aagtgacttttgcccaaggaatttgagaaataaggcaaataagttgctctattttaaagt c.*4920
. . . . . . g.11361
agtcattcaatataaatatattatatcaatcttaacttttttattctctgatatgattaa c.*4980
. . . . . . g.11421
taatatgtatattcttacttttcttctaatgggcatatgtatccttgtggacactttgag c.*5040
. . . . . . g.11481
agaggttttcttggactctcccatttatagaatctttatactcttttactgtgtggttcc c.*5100
. . . . . . g.11541
ctgcttttaacagatttctgaggcaaatatatttgtgcttttttcttatgtaggaagacc c.*5160
. . . . . . g.11601
agcgaaaatagtttactgagttgtcaattttatcagtagataagaaactttctttattac c.*5220
. . . . . . g.11661
agtttcagggaagattttttcaggatatttctcagttattctaagggccaaattttgtaa c.*5280
. . . . . . g.11721
aatttccattaggaatgtcagtttcaaataccctttgtatagcctaagcctgtgaggata c.*5340
. . . . . . g.11781
acaagaatgagccttacctatcctaacacagggatttacaagttcccaaagtaaccgtct c.*5400
. . . . . . g.11841
ccatgtaactcttgacatacttttctgagatttggcttatttttattattggttatttct c.*5460
. . . . . . g.11901
cactgttcattctatttgatttattctacaacatccccttttatttaatgatctggaaaa c.*5520
. . . . . . g.11961
ttctgctctttgataacaactcaggatttttttgttcagttttggtttttgccccttcct c.*5580
. . . . . . g.12021
gtggagcctacattttcaaccacaataaagatgaaacaaaatttatgaaactgagctctc c.*5640
. . . . . . g.12081
ttccattttacttactgctggcttttttttttttttttttccttgattcctaccatacct c.*5700
. . . . . . g.12141
tcgtttttttcattgtacttttttaacactacctatatccattagctgcctaattagttt c.*5760
. . . . . . g.12201
tatctgttccatgtggatgcagtgagtttataagagaatttcacaaacaagtagtttttt c.*5820
. . . . . . g.12261
agtgaacttaaaataaacagaattttaaaggagacctatttttatactcaataaaagcac c.*5880
. . . . . . g.12321
aaaagtgcagaaagtataaaacggcttacaaagggagacacaagctcataatgttccatg c.*5940
. . . . . . g.12381
tataaaagtaataactttattgggtagagatattcttacaagatctagcacctctgccag c.*6000
. . . . . . g.12441
tgcacagataggactgttttaaatgatttgggaacttttggttgcctgcagttgtgaaca c.*6060
. . . . . . g.12501
gagaacttctctacagagaaacaaaccactaaaagcaatatgaccgagttgagatgtggt c.*6120
. . . . . . g.12561
ttccaatgagcaattggtgaatttaagcaacctggatgtgcatatgtggaggctcccgtc c.*6180
. . . . . . g.12621
tcactgtttgatcaaacttcttttatgtagtcacgtagacttgattttttctgctgtgaa c.*6240
. . . . . . g.12681
aatgaaaaaataaagcaatatgacaaaaagtttaaaaatgcataaaaaataggatttcct c.*6300
. . . . . . g.12741
ctaggctcctcgaagagatttttttaatatgatgcttgtcttactttcttagacacgtta c.*6360
. . . . . . g.12801
catttccccttccaaaaaaaaaaaaaaggacaactggaagtaatttatcatataaagaat c.*6420
. . . . . . g.12861
tttgatcaaatagatattgacaaagggccctctgtcacatttttcttcatccagcttttg c.*6480
. . . . . . g.12921
ttcaaaaacagtatgcctcctcccttgaatcacatagggagaaacgttatactccattct c.*6540
. . . . . . g.12981
cattaatttcccattttgtctacttttactcttgtacatatgttgtgggtttaagagtct c.*6600
. . . . . . g.13041
tttgcatttgttctgtgacacctttttttgaattgactgttttaaaacggaggcctattt c.*6660
. . . . . . g.13101
tttccggtttgggactcctagtggttatggcatcccataatgcttcgtgacggccaccag c.*6720
. . . . . . g.13161
gacagaaccacctgatgttttagagcagttttcagcatgacactgttaacaagtgtgtat c.*6780
. . . . . . g.13221
tttccaaggccacatgaaacttactttcttagccactccaggtttgggagcagaaaagct c.*6840
. . . . . . g.13281
gaaaaacccttttgtgtagaagtctgagtggtttgtgggggggaccttttttagagtttg c.*6900
. . . . . . g.13341
catgccagcgcacggcctattgctgtgaaacagagagaaggtaaagctacctgaggcagt c.*6960
. . . . . . g.13401
gcgctggaggatgaagtgtttgatagcactaggggggaaagaaaatgcatggcaaagttt c.*7020
. . . . . . g.13461
cgtcttctcgtagactatctagcatgcagagtgtagtgtgttgaaacggtgtatgacatt c.*7080
. . . . . . g.13521
gctgtatcaaagttgtaaaattaagcattatttattgaaaactatgtatttttttgtaaa c.*7140
. . . . . . g.13581
aacctgatcacatagagaatatcagtggcttgtgcttgtgcttcgatctaaccagcttct c.*7200
. . . . . . g.13641
tgacccacccccccttggtatgcagtgttaatgctcagggttgaaaatagtacactccaa c.*7260
. . . . . . g.13701
tgtctcttttgcaagagtttttcacagaggattacatttgttcaaaagactctaataaaa c.*7320
. g.13719
ttgtgtgatcaatcttca c.*7338
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 09
©2004-2014 Leiden University Medical Center