(used for variant description)
(last modified May 27, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_002316.3 in the LMX1B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering LMX1B transcript NM_002316.3.
(upstream sequence)
g.5007
gcgtccc c.-1
. . . . . . g.5067
ATGGATATAGCAACAGGTCCCGAGTCGCTGGAGAGGTGCTTCCCTCGCGGGCAGACGGAC c.60
M D I A T G P E S L E R C F P R G Q T D p.20
. . . . . . g.5127
TGCGCCAAGATGTTGGACGGCATCAAGATGGAGGAGCACGCCCTGCGCCCCGGGCCCGCC c.120
C A K M L D G I K M E E H A L R P G P A p.40
. | 02 . . . . g.5981
ACTCTGGGGGTGCTGCTGG | GCTCCGACTGCCCGCATCCCGCCGTCTGCGAGGGCTGCCAG c.180
T L G V L L G | S D C P H P A V C E G C Q p.60
. . . . . . g.6041
CGGCCCATCTCCGACCGCTTCCTGATGCGAGTCAACGAGTCGTCCTGGCACGAGGAGTGT c.240
R P I S D R F L M R V N E S S W H E E C p.80
. . . . . . g.6101
TTGCAGTGCGCGGCGTGTCAGCAAGCCCTCACCACCAGCTGCTACTTCCGGGATCGGAAA c.300
L Q C A A C Q Q A L T T S C Y F R D R K p.100
. . | 03 . . . . g.81427
CTGTACTGCAAACAAGACTACCAACA | GCTCTTCGCGGCCAAGTGCAGCGGCTGCATGGAG c.360
L Y C K Q D Y Q Q | L F A A K C S G C M E p.120
. . . . . . g.81487
AAGATCGCCCCCACCGAGTTCGTGATGCGGGCGCTGGAGTGCGTGTACCACCTGGGCTGC c.420
K I A P T E F V M R A L E C V Y H L G C p.140
. . . . . . g.81547
TTCTGCTGCTGCGTGTGTGAACGGCAGCTACGCAAGGGCGACGAATTCGTGCTCAAGGAG c.480
F C C C V C E R Q L R K G D E F V L K E p.160
. . . . . . g.81607
GGCCAGCTGCTGTGCAAGGGTGACTACGAGAAGGAGAAGGACCTGCTCAGCTCCGTGAGC c.540
G Q L L C K G D Y E K E K D L L S S V S p.180
. | 04 . . . . g.83740
CCCGACGAGTCCGACTCCG | TGAAGAGCGAGGATGAAGATGGGGACATGAAGCCGGCCAAG c.600
P D E S D S V | K S E D E D G D M K P A K p.200
. . . . . . g.83800
GGGCAGGGCAGTCAGAGCAAGGGCAGCGGGGATGACGGGAAGGACCCGCGGAGGCCCAAG c.660
G Q G S Q S K G S G D D G K D P R R P K p.220
. . . . . . g.83860
CGACCCCGGACCATCCTCACCACGCAGCAGCGAAGAGCCTTCAAGGCCTCCTTCGAGGTC c.720
R P R T I L T T Q Q R R A F K A S F E V p.240
. . | 05 . . . . g.84120
TCGTCGAAGCCTTGCCGAAAG | GTCCGAGAGACACTGGCAGCTGAGACGGGCCTCAGTGTG c.780
S S K P C R K | V R E T L A A E T G L S V p.260
. . . | 06 . . g.84324
CGCGTGGTCCAGGTCTGGTTTCAGAACCAAAGAGCAAAG | ATGAAGAAGCTGGCGCGGCGG c.840
R V V Q V W F Q N Q R A K | M K K L A R R p.280
. . . . | 07 . . g.86410
CACCAGCAGCAGCAGGAGCAGCAGAACTCCCAGCGGCTGGGCCAGG | AGGTCCTGTCCAGC c.900
H Q Q Q Q E Q Q N S Q R L G Q E | V L S S p.300
. . . . . . g.86470
CGCATGGAGGGCATGATGGCTTCCTACACGCCGCTGGCCCCACCACAGCAGCAGATCGTG c.960
R M E G M M A S Y T P L A P P Q Q Q I V p.320
. . . . . . g.86530
GCCATGGAACAGAGCCCCTACGGCAGCAGCGACCCCTTCCAGCAGGGCCTCACGCCGCCC c.1020
A M E Q S P Y G S S D P F Q Q G L T P P p.340
. | 08 . . . . . g.86901
CAAATGCCAG | GGAACGACTCCATCTTCCATGACATCGACAGCGATACCTCCTTAACCAGC c.1080
Q M P G | N D S I F H D I D S D T S L T S p.360
. . . . . . g.86961
CTCAGCGACTGCTTCCTCGGCTCCTCAGACGTGGGCTCCCTGCAGGCCCGCGTGGGGAAC c.1140
L S D C F L G S S D V G S L Q A R V G N p.380
. . . . g.87009
CCCATCGACCGGCTCTACTCCATGCAGAGTTCCTACTTCGCCTCCTGA c.1188
P I D R L Y S M Q S S Y F A S X p.395
. . . . . . g.87069
gagccagccaggcgcacggacgcttgggcaggggcctgggggggactgccagcctctgcg c.*60
. . . . . . g.87129
gccagcctggccacccccgccctgctctccgcacagactacagacagccatacggtgccc c.*120
. . . . . . g.87189
tcccctcggccagctgggcctgaccactgtgcccgttgggtacagccagaccggtagatg c.*180
. . . . . . g.87249
ggcacagcctgggcaggggctgtgtcctgcccacagagaccttgtcatccccagggaccc c.*240
. . . . . . g.87309
agagctctcggacggccactcgcctcccagccccacctcggcctccatcgcctcctcccc c.*300
. . . . . . g.87369
atctcttttttgggaagcttaaattctctctatttttttaaatgtcctctctgtgtccat c.*360
. . . . . . g.87429
ggccctccatgcaagccccaggacaatggtgtcatgaggcggtgacctgagaagcgtgtg c.*420
. . . . . . g.87489
tacctgtgccccagcaagggcaggggtggcctctgggggcaggcccactgcctggaaccg c.*480
. . . . . . g.87549
cacacccctcagcctgagtctggagcagcagtggagaggggcctgaggggaggcactgtc c.*540
. . . . . . g.87609
aggaggcgggctcggagcctgagcctgggcaggcgcaaagggacagagaggcacgtgcag c.*600
. . . . . . g.87669
acacatgcacacttgcagacaaacccacgcaaacacacacacagctgtatggggacacca c.*660
. . . . . . g.87729
gaagggacagggatgctcagcgggtctgtcctgccttgtcagaaagagaaaaggaggcca c.*720
. . . . . . g.87789
ggcaggggaccccccagttcttaagagcgattggaaagggaggaaggggagaggaagagg c.*780
. . . . . . g.87849
cgaacttgaagcatcggacccagttgtatcccagcctgggcccaaatgggggcagcctgg c.*840
. . . . . . g.87909
gcagggagggcagccccaggccccaccaactctagaggcagatggagcccccagaaccag c.*900
. . . . . . g.87969
gtagcatcagaccagacaacagagcctccaggggtcagggacttcagaagcacctgctgg c.*960
. . . . . . g.88029
gcaccccatctgcaatgtggtcctctccccagccacctctgcctcccctcacatacctcc c.*1020
. . . . . . g.88089
agtgacaaggagctcactaggtcagcgagcccacagcagctgtgctgtcctgcatcccag c.*1080
. . . . . . g.88149
agccaggcttccccagctctccctcttaacactgtcccccagcaggcctccggctgtccc c.*1140
. . . . . . g.88209
tctaaaggtgtggggcaggtatcacttcaccttcccactgatgtcagccggccagaagtg c.*1200
. . . . . . g.88269
agcaggcacatcacctctcctgctgtggcacccttcctctgttaatttggcccaaaagac c.*1260
. . . . . . g.88329
aatgatttggccacatgaccttagagattcaccctgccctgctgtagctaaatccctggg c.*1320
. . . . . . g.88389
ccccacacgcaagtgacagctaagccacatctgttttctgtgtatatgcaggatgggggc c.*1380
. . . . . . g.88449
acctactgttttgttttgttttgttttgttttgttttgttttgttttgttttgttttgtt c.*1440
. . . . . . g.88509
tgagacggagtttcgctcttgttgcccaggctggagtgcaatggcgcgatctcggctcac c.*1500
. . . . . . g.88569
cacaacctccgcctcccaggttcaagtgattctgatgcctcagcctccctagtagctgag c.*1560
. . . . . . g.88629
attacaggcatgcgccaccacacccagctaattttgtatttttagtagcaacggggtttc c.*1620
. . . . . . g.88689
tccatgttggtcaggctggtctccaacccccgacctcaggtgatccgcctgcctcggcct c.*1680
. . . . . . g.88749
cccaaagtgctgggattacaggcgtgagccaccgcacccagtctgcacttactgtttaga c.*1740
. . . . . . g.88809
ctgaatgagggaccgtgacctctttccttttccattccttcttactcgattcattccagc c.*1800
. . . . . . g.88869
ctgtggaatttctctgcaccctgattcagtgaccactgctctcctctctcccagcacatc c.*1860
. . . . . . g.88929
tgcccagtgaggagttggccctgggtctcacctgaggtgtgtggaccgggctggcctctc c.*1920
. . . . . . g.88989
cctgtttgacattggcccattaatgcatcctctttgggggacacattccaattgcatttc c.*1980
. . . . . . g.89049
ctgcccccttctcccagggcaattgcagaagattgtgtcaggcgccctgctggaagtcag c.*2040
. . . . . . g.89109
gtgcactagatccatccccagccccagtctgctcaactctatccctgtcagagcaaggag c.*2100
. . . . . . g.89169
gctgggctgctggggcctgactggtgagcccaccctgtcccctggtgatcactgtgtccc c.*2160
. . . . . . g.89229
cttgttcaggtgctcacaaccctacctttaactctgaggtcaagccctaggccaccaccc c.*2220
. . . . . . g.89289
taaagtctgcctggtccaacctttgagcaagtaaggataatgaatgtcccttttccacct c.*2280
. . . . . . g.89349
ttggggccctctgcctggatctctggaatcctctaagttcaacctgttctgtggttttgc c.*2340
. . . . . . g.89409
tcccgtttgctgggaaattcagtccccccagaatgtcctgggccaacctccttgcctgac c.*2400
. . . . . . g.89469
atgtggcctcgtgtcacccattgggccccagcagccagctagcccttctgcagctcttct c.*2460
. . . . . . g.89529
tacaaacagagcctctccaaggacctcagttgatgttctggtccttctgccgcctcagcc c.*2520
. . . . . . g.89589
caccagggtccgtgccaccatgggtctcttgagcagcagctgcactggcttctggagaga c.*2580
. . . . . . g.89649
cacccctctttctccttttgcacatgcaccatctgaatcgtgccagggacatcctgggca c.*2640
. . . . . . g.89709
gattcaggggcagatgccctatcccccaggagacctggcccttctctctcagacccaata c.*2700
. . . . . . g.89769
agttggaagggacgtcagaagcggtcatctcatctgccccttattttatagttggaaacc c.*2760
. . . . . . g.89829
ctgaggcaagagagggaaagaggcctgtccaaggtccgggttagtgacagagctgagctg c.*2820
. . . . . . g.89889
agaacagggacgttgtgccccactgtcccctgtggtttgtgaatgacctccaggtcaggg c.*2880
. . . . . . g.89949
ggtcacaacttgttcttagtaaacttgccagctgttggggtcacatattcccattctggg c.*2940
. . . . . . g.90009
gcctcacaaacccccgaatccagccgggaccccatgccaggagctggtctagggacagca c.*3000
. . . . . . g.90069
tgcttgtgacccacagactgttaaagccagaagggacctcagagagtcccttatgctgga c.*3060
. . . . . . g.90129
ggcgccctgtcagccgtggctaggggccccttgctctatgctgtgccttgctgcccacag c.*3120
. . . . . . g.90189
gctcccagacaccagtgcccactctgcccagccccggactgggtgtggctcgcagatgaa c.*3180
. . . . . . g.90249
caagatgcagggcctgccttgaggggtgtctcctagaaggaaagccagactctccggccc c.*3240
. . . . . . g.90309
agccagagagtccagacatggcagggacccgtttctcagatgaggagcctgaggctcaga c.*3300
. . . . . . g.90369
gaagggaggcgatgtgttcagggccacccagcagaagcctgtggggctgggcaaccttct c.*3360
. . . . . . g.90429
cccactttatgggaggagctgcagccttggctgggagctgggcggggagtagccaggacc c.*3420
. . . . . . g.90489
accccttgcccgtgccgtgacatggaaccttcatcactaagggggctggagtgggaagag c.*3480
. . . . . . g.90549
ggagataactgtgtggtctccagagcaaaagagaatgagaggtgggcagggggagtcttg c.*3540
. . . . . . g.90609
gcaaaagaccaagttccacttccctgctggggaagtcaaggctcagaaagaggaaataat c.*3600
. . . . . . g.90669
tgccccaggtaacacagggcagaggagggacaaaaagctgggcatggccccagccagagc c.*3660
. . . . . . g.90729
ctcatctgcctactccgtgaagcctcccaggtactctgctatcctgggaaacgcacaggg c.*3720
. . . . . . g.90789
aggccacacagagacactgctcacaagagtcagaccaaggtgccagcacagcctggaaag c.*3780
. . . . . . g.90849
agctcagaaagggggttggtgcacgtggctgggcatcttaggaggcttcctgagggtggg c.*3840
. . . . . . g.90909
taaaggtgggaaggccctggcgctgcatcagatgagcagggcctggcagggacaagcctc c.*3900
. . . . . . g.90969
ttctcctttgggaagccctgcagcctcctagcaagaggctgattccccactctgccccca c.*3960
. . . . . . g.91029
tctgaatgtccttttcatgttgcacgcagggaacctcaggaaggaggattgcctgatgcc c.*4020
. . . . . . g.91089
tgcctggctccatccttgagctctgggcaccacctagggtgagggagagcctgcagctct c.*4080
. . . . . . g.91149
ggggctaagtctgccctggggggaaagggctccacgctcacacgcacgcgctcgcacaca c.*4140
. . . . . . g.91209
cacactcacacctggacgcacacggaggcttgcggacccatactcacaggcacatgtggc c.*4200
. . . . . . g.91269
ctggggactgggggagcaggaaagacccctccaacatttggcccttggaaggcaccattg c.*4260
. . . . . . g.91329
ccaatgagcctctttgctggttcccccgaccccacctgggggtcccatgggagcccagcc c.*4320
. . . . . . g.91389
cagccaggtgtggggatgggccaccggccattcctgttttccttgtacagacagattctc c.*4380
. . . . . . g.91449
actacccacccgccatccccagacacattttatttaataacttgtcattgttaaattatt c.*4440
. . . . . . g.91509
tattagcgtttaccacaccaccacccccaccctgccctccactctcaccttccacctctt c.*4500
. . . . . . g.91569
cccacaacagcagaaaatggaaacaacaacaaaaaaagatgagacatcagtatatttgta c.*4560
. . g.91590
aataaaccgacctgtacactc c.*4581
(downstream sequence)
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