(used for mutation description)
(last modified March
5, 2010)
This file was created to facilitate the description of sequence variants in the LDB3 gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008876.1,
covering transcript variant 1 (NM_007078.2,
extend with the 5'UTR of NM_001080116.1).
Other transcript variants use two alternatively spliced exons from intron 5 (exon
05b and exon 05c, replacing the
normal exon 05), contain an alternatively spliced 3'-terminal
exon 07b (transcript variants 3 [NM_001080115.1]
and 4 [NM_001080116.1])
or skip exon 08 (transcript variant 2 [NM_001080114.1]).
NOTE: the first exon is newly annotated correctly - exon numbering was
thus modified accordingly.
(upstream sequence)
. . g.4910
acagtccatttatgggcgcagccga c.-121
. . . . . . g.4970
aggcagatatcagtgtcgatggcattcgctcccagctattcttaggagcctctcaagagc c.-61
. . . . | 02 . . g.5128
tccacgcagcccggctgggcagcaagggacagaacag | aggcggccgctgacagcaccagc c.-1
^ transcriptional start rare transcripts
. . . . . . g.5188
ATGTCTTACAGTGTGACCCTGACTGGGCCCGGGCCCTGGGGCTTCCGTCTGCAGGGGGGC c.60
M S Y S V T L T G P G P W G F R L Q G G p.20
. . . | 03 . . . g.15830
AAGGACTTCAACATGCCCCTCACTATCTCCCGG | ATCACACCAGGCAGCAAGGCAGCCCAG c.120
K D F N M P L T I S R | I T P G S K A A Q p.40
. . . . . . g.15890
TCCCAGCTCAGCCAGGGTGACCTCGTGGTGGCCATTGACGGCGTCAACACAGACACCATG c.180
S Q L S Q G D L V V A I D G V N T D T M p.60
. . . . . . g.15950
ACCCACCTGGAAGCCCAGAACAAGATCAAGTCTGCCAGCTACAACTTGAGCCTCACCCTG c.240
T H L E A Q N K I K S A S Y N L S L T L p.80
| 04 . . . . . . g.16573
CAGAA | ATCAAAGCGTCCCATTCCCATCTCCACGACAGCACCTCCAGTCCAGACCCCTCTG c.300
Q K | S K R P I P I S T T A P P V Q T P L p.100
. . | 05 . . . . g.17911
CCGGTGATCCCTCACCAGAAG | GACCCCGCTCTGGACACGAACGGCAGCCTGGTGGCACCC c.360
P V I P H Q K | D P A L D T N G S L V A P p.120
^ alternatively spliced; replaced by two other exons from intron 05
. . . . . . g.17971
AGCCCCAGCCCTGAGGCGAGGGCCAGCCCAGGCACCCCAGGCACCCCGGAGCTCAGGCCC c.420
S P S P E A R A S P G T P G T P E L R P p.140
. . . . . . g.18031
ACCTTTAGCCCTGCCTTCTCCCGGCCCTCCGCCTTCTCCTCACTCGCCGAGGCCTCTGAC c.480
T F S P A F S R P S A F S S L A E A S D p.160
. . . . . . g.18091
CCTGGCCCTCCGCGGGCCAGCCTGAGGGCCAAGACCAGCCCAGAGGGGGCCCGGGACCTA c.540
P G P P R A S L R A K T S P E G A R D L p.180
. . . . . . g.18151
CTCGGCCCAAAAGCCCTGCCGGGCTCGAGCCAGCCGAGGCAATATAACAACCCCATTGGC c.600
L G P K A L P G S S Q P R Q Y N N P I G p.200
. . . . . . g.18211
CTGTACTCGGCAGAGACCCTGAGGGAGATGGCTCAGATGTACCAGATGAGCCTCCGAGGG c.660
L Y S A E T L R E M A Q M Y Q M S L R G p.220
. . | 06 . . . g.28363
AAGGCCTCGGGTGTCGGACTCCCAGGAGG | GAGCCTCCCTATTAAGGACCTTGCCGTAGAC c.720
K A S G V G L P G G | S L P I K D L A V D p.240
alternatively spliced; ^
replaced by two other exons from intron 05
. . . . . . g.28423
AGCGCCTCTCCCGTCTACCAGGCTGTGATTAAGAGCCAGAACAAGCCAGAAGATGAGGCT c.780
S A S P V Y Q A V I K S Q N K P E D E A p.260
. . . . . . g.28483
GACGAGTGGGCACGCCGTTCCTCCAACCTGCAGTCTCGCTCCTTCCGCATCCTGGCCCAG c.840
D E W A R R S S N L Q S R S F R I L A Q p.280
. | 07 . . . | 08 . g.42971
ATGACGGGGACAGAATTCA | TGCAAGACCCTGATGAAGAAGCTCTGCGAAGGTCAAG | CACC c.900
M T G T E F M | Q D P D E E A L R R S S | T p.300
^ alternatively spliced, skipped in some transcripts
^ alternatively spliced 3'-terminal exon 07b
. . . . . . g.43031
CCTATTGAGCATGCGCCGGTGTGCACCAGCCAGGCCACCACCCCGCTGCTGCCCGCTTCT c.960
P I E H A P V C T S Q A T T P L L P A S p.320
. . . . . . g.43091
GCCCAGCCACCTGCTGCTGCCTCTCCCAGTGCGGCTTCGCCACCCCTGGCCACAGCTGCT c.1020
A Q P P A A A S P S A A S P P L A T A A p.340
. . . . . . g.43151
GCCCACACTGCCATCGCCTCCGCCTCCACCACAGCCCCTGCTTCAAGTCCTGCCGACAGC c.1080
A H T A I A S A S T T A P A S S P A D S p.360
| 09 . . . . . . g.46396
CCAAG | GCCCCAGGCCTCTTCCTACAGCCCCGCAGTGGCCGCCTCTTCAGCACCTGCCACC c.1140
P R | P Q A S S Y S P A V A A S S A P A T p.380
. . . . . . g.46456
CACACCAGCTACAGTGAGGGCCCCGCCGCCCCTGCACCCAAGCCCCGGGTTGTCACCACT c.1200
H T S Y S E G P A A P A P K P R V V T T p.400
. . . | 10 . . . g.52792
GCCAGCATCCGGCCTTCTGTCTACCAGCCAG | TGCCTGCATCTACCTACAGCCCGTCCCCA c.1260
A S I R P S V Y Q P V | P A S T Y S P S P p.420
. . . . . . g.52852
GGGGCCAATTACAGTCCCACTCCCTACACCCCCTCCCCTGCCCCTGCCTACACCCCCTCC c.1320
G A N Y S P T P Y T P S P A P A Y T P S p.440
. . . . . . g.52912
CCTGCCCCTGCCTACACCCCCTCACCTGTCCCCACCTACACTCCATCCCCAGCACCAGCC c.1380
P A P A Y T P S P V P T Y T P S P A P A p.460
. . . . . . g.52972
TATACCCCCTCACCTGCCCCCAACTATAACCCTGCACCCTCGGTGGCCTACAGCGGGGGC c.1440
Y T P S P A P N Y N P A P S V A Y S G G p.480
. . . . . . g.53032
CCTGCGGAGCCTGCCAGCCGTCCACCCTGGGTGACAGATGATAGCTTCTCCCAGAAGTTT c.1500
P A E P A S R P P W V T D D S F S Q K F p.500
. . . . . . g.53092
GCCCCGGGCAAGAGCACCACCTCCATCAGCAAGCAGACCCTGCCCCGGGGAGGCCCAGCC c.1560
A P G K S T T S I S K Q T L P R G G P A p.520
. . . . . . g.53152
TACACCCCAGCGGGTCCTCAGGTGCCACCACTTGCCAGGGGGACCGTCCAGAGGGCTGAG c.1620
Y T P A G P Q V P P L A R G T V Q R A E p.540
. . . . . | 11 . g.54404
CGATTCCCAGCCAGCAGCCGGACTCCACTCTGCGGTCACTGCAACAATGTCATCCG | GGGC c.1680
R F P A S S R T P L C G H C N N V I R | G p.560
. . . . . . g.54464
CCATTTCTGGTAGCCATGGGCCGTTCTTGGCACCCTGAAGAGTTCACCTGTGCCTACTGC c.1740
P F L V A M G R S W H P E E F T C A Y C p.580
. . . . . . g.54524
AAGACTTCCCTGGCAGATGTGTGCTTTGTGGAAGAGCAGAACAACGTTTACTGTGAGCGA c.1800
K T S L A D V C F V E E Q N N V Y C E R p.600
. . . . . | 12. g.55166
TGTTATGAGCAATTCTTTGCCCCGCTGTGTGCCAAGTGCAACACCAAAATTATGGGG | GAA c.1860
C Y E Q F F A P L C A K C N T K I M G | E p.620
. . . . . . g.55226
GTAATGCATGCCTTGAGACAGACATGGCACACCACCTGCTTCGTCTGTGCGGCCTGCAAG c.1920
V M H A L R Q T W H T T C F V C A A C K p.640
. . . . . | 13 g.62575
AAGCCTTTTGGGAACAGCCTCTTCCACATGGAAGACGGGGAGCCCTACTGCGAGAAAG | AC c.1980
K P F G N S L F H M E D G E P Y C E K D | p.660
. . . . . . g.62635
TACATCAATCTGTTCAGCACCAAGTGCCATGGCTGCGATTTCCCCGTGGAGGCTGGCGAC c.2040
Y I N L F S T K C H G C D F P V E A G D p.680
. . . . . | 14 . g.69329
AAGTTTATCGAAGCCCTGGGCCACACTTGGCACGACACCTGCTTCATTTGCGCA | GTCTGC c.2100
K F I E A L G H T W H D T C F I C A | V C p.700
. . . . . . g.69389
CATGTGAATCTGGAGGGGCAGCCGTTCTACTCCAAGAAGGACAGACCCCTGTGCAAGAAG c.2160
H V N L E G Q P F Y S K K D R P L C K K p.720
. . g.69413
CACGCACACACCATCAACTTGTAG c.2184
H A H T I N L X p.727
. . . . . . g.69473
gcggccaaggccgcctgtgctgacgaggcccggagctgctcctgctgctggcaacaaagg c.*60
. . . . . . g.69533
attcgggaggctgatgtttcttctgaggggaatggggagagagaggaagcgactgagccc c.*120
. . . . . . g.69593
tttggaagtataattttaggttttttcttctgtacacagatcgtgcatttgcatagttca c.*180
. . . . . . g.69653
gactaggagccaaatgaagactcaaaaccaagctagttattaatccaagactggaattgt c.*240
. . . . . . g.69713
acttcagacatttagagcagaattccaagaactcaaaagtgaaaagcaacaagcagcttt c.*300
. . . . . . g.69773
cccaaagcgatacacttgctttggtcaccagaggaggacagagcttagagcagctgtgga c.*360
. . . . . . g.69833
gaatctgaagcattctgcggagttcttaagcgctcccctggcaaacaaattgaagtgcca c.*420
. . . . . . g.69893
aacagcactcgctgcagggtatttttagagtcatagctgagagcttgttagctaagaccc c.*480
. . . . . . g.69953
attgggctttcctcaccaaaaaaggaagtgttattccattactagcgtcatggagctacc c.*540
. . . . . . g.70013
tctgcgcatcagacttcagaccttgaacaaacttaaaaccttcttgggagcccggacgtc c.*600
. . . . . . g.70073
caaagagatgtcttctgggagccactgggcaattgccagggctccaggaagggctctggc c.*660
. . . . . . g.70133
tcaggttgcagacagctgagaaaagatggccctgtcagccaccctctctcagtctgaaac c.*720
. . . . . . g.70193
atccaacatccccagaaggcttagctcctttttgaattgtgatgggaaagtagagttggg c.*780
. . . . . . g.70253
tttttccagttttgctctgtggtgtgtgagagatttttttaaaggctttgggttgtcttt c.*840
. . . . . . g.70313
ggcctttgtttagctttaagggttcgttagcatgagtgtccagtcgtgtgcatgaatttc c.*900
. . . . . . g.70373
accccaacttgtgactgctcacttatgacgtctcccccagtaccctccatctcaaatagg c.*960
. . . . . . g.70433
cttggtggcctgtggaaaagaagagagacagagagacagtgtctgaaacaggatggcaga c.*1020
. . . . . . g.70493
ataggctcacatgcccaaactctgggtggggaagaggaaacttactttctgccaccctca c.*1080
. . . . . . g.70553
gtaagaacacacgaggaggcaggacctcccaccttcaggtctgcatcatccttttcaaat c.*1140
. . . . . . g.70613
gttcctttaaatgcagcacactgagtttgtacaattgtgttaactgctggaagggacaga c.*1200
. . . . . . g.70673
tgcactgatatatatgcatttgctgttttggccaatattttgaaaatgtatgagctgagt c.*1260
. . . . . . g.70733
tgatctagctattatttaagtatttattgaagtagaggggccttcaaactactttatact c.*1320
. . . . . . g.70793
agtgatagtttgagttaggtaagcatcttaaagctgtttggtgataaagaaggcagctta c.*1380
. . . . . . g.70853
gattctgtggttggaaacagtgtagtcgcttccctttttaggaagccctgttaatatgct c.*1440
. . . . . . g.70913
cattgaaaacatggcattgaagcaggcacttgcgtggatgtttctcacttgagcacgata c.*1500
. . . . . . g.70973
tttaggctctcttccaactcactctattctgtcctcactcctgttttggatttttctctt c.*1560
. . . . . . g.71033
tgcatgtttgaaatgttttatgggaatgtattagaactcttttcttctaaggactgagac c.*1620
. . . . . . g.71093
ttccaggggattgccatcttacctgtctcttctccatgagggagaaggaagcagctagct c.*1680
. . . . . . g.71153
atgtccctagctgcaggaagcccctattttttccaagcacgaagccaccagtctccccca c.*1740
. . . . . . g.71213
gggagcatcaggaagggacatggatgtgctcctgccacagggcccttcctacctttggat c.*1800
. . . . . . g.71273
ctgtgagaaggtgaatacaaagcagcaggcagagtaaaatctgctgggactgcctggaga c.*1860
. . . . . . g.71333
tttgtcaggagctgcagacaagtaccttggagcattctgttatttttggaaagttcaaat c.*1920
. . . . . . g.71393
atgcagggacaaggaggttgctgactgtactgacaggctctaagtcattttctccaaaaa c.*1980
. . . . . . g.71453
ctatctattcaattatcaggggctggtcttgaggaaggaaaaaaaaaaaaaaacgttccc c.*2040
. . . . . . g.71513
agaattcagtttccaaaatctctttttaaagggtttacacacacacacacacacacacac c.*2100
. . . . . . g.71573
acacacacacacacacacacacacgatcattaaaaagtgtatgctctttaagaagaaaag c.*2160
. . . . . . g.71633
taaaatatctcaaaggacggtttcaccaccgtcctttattgaatcaatttttctacattt c.*2220
. . . . . . g.71693
cagagcaagtgtagattctgagggactcctatttgccaaaaagacaaaactagcaaaaaa c.*2280
. . . . . . g.71753
aaaacaaaaaaacaaaaaaaaaaccacttaaaaggtagcaggaaaagaaggtagttttga c.*2340
. . . . . . g.71813
gtgtggttcactcagtgtctgtgagtctggtgtagtgtcaggagtaaggccgtgtctagc c.*2400
. . . . . . g.71873
tcaagtttacatttggatgtcctacaacactaaacaaaatttttcataatccatggtggg c.*2460
. . . . . . g.71933
gagcacactttggagctacatttcttgtctcctcattgttgacattaattaaacatttat c.*2520
. . . . . . g.71993
aggccaggcacagtggctcacgcctgttatcccagcactttgggaggccgaggcaggtga c.*2580
. . . . . . g.72053
atcacctgaggtcaggagtttgaaaccagcctggccaatatggtgaaaccccatctctac c.*2640
. . . . . . g.72113
taaaaatacacaaaattagccaggtgtggtggcaggcgcctgtagttccagctacttggg c.*2700
. . . . . . g.72173
aggctgaggcaggaatctcctgaatcctggaggcggaggttgcagtgagccgagattatg c.*2760
. . . . . . g.72233
ccattgcactccagcctgggcaacaggagcgaaactccgttgcaaaaaaaaaaaaaaaaa c.*2820
. . . . . . g.72293
aaaaattataatcacaactttttgcaatggagtgacttatatctgcagcttatatctgca c.*2880
. . . . . . g.72353
gtgtttgtgttaggaacctagcttttataatgtgttaactttttaactcagtattctggc c.*2940
. . . . . . g.72413
tttgggattttttgttttgtttttggaaacatttcagaagtggaatgtagcctgttaaag c.*3000
. . . . . . g.72473
gtgtgcacaaaaatattttgcatgtgtttttttttttgcctgtgtgaattctacttttta c.*3060
. . . g.72505
gcaaaaataaagccccccaaaggatgtgcaaa c.*3092
(downstream sequence)
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