(used for variant description)
(last modified September 19, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_005573.3 in the LMNB1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008360.2, covering LMNB1 transcript NM_005573.3.
(upstream sequence)
. . . . g.5046
ggagcgggggataaggttaccacgcccgcggtggccggggacactc c.-841
. . . . . . g.5106
tgagtttcgcgtgtggcttttagggacgtttatatttgaatttccctgaaccgccgagtg c.-781
. . . . . . g.5166
tgggcggtggcgcagatccgtcccggaaacctccgggctccttcccgcctttctcaggcc c.-721
. . . . . . g.5226
cggcccctccaaggggtccccgcggggcggcgggagggccctgggcccagagccgcgcgg c.-661
. . . . . . g.5286
gtgggcagtcccaggcgtccttccttacagccctgagcctggtccgggaaccgcccagcc c.-601
. . . . . . g.5346
gggagggccgagctgacggttgcccaagggccagattttaaatttacaggcccggccccc c.-541
. . . . . . g.5406
gaaccgccgaagcgcgctgcctgctccccattggcccatggtagtcacgtggaggcgccg c.-481
. . . . . . g.5466
gggcgtgccggccatgttggggagtgcggcgccgcggcccgcgccacctccgccccccgc c.-421
. . . . . . g.5526
ggcttgcctccagcccgcccctcccggccctcctccccccgcccgccgctccgtgcagcc c.-361
. . . . . . g.5586
tgagaggaaacaaagtgctgcgagcaggagacggcggcggcgcgaaccctgctgggcctc c.-301
. . . . . . g.5646
cagtcaccctcgtcttgcattttcccgcgtgcgtgtgtgagtgggtgtgtgtgttttctt c.-241
. . . . . . g.5706
acaaagggtatttcgcgatcgatcgattgattcgtagttcccccccgcgcgcctttgccc c.-181
. . . . . . g.5766
tttgtgctgtaatcgagctcccgccatcccaggtgcttctccgttcctctaaacgccagc c.-121
. . . . . . g.5826
gtctggacgtgagcgcaggtcgccggtttgtgccttcggtccccgcttcgccccctgccg c.-61
. . . . . . g.5886
tcccctccttatcacggtcccgctcgcggcctcgccgccccgctgtctccgccgcccgcc c.-1
. . . . . . g.5946
ATGGCGACTGCGACCCCCGTGCCGCCGCGGATGGGCAGCCGCGCTGGCGGCCCCACCACG c.60
M A T A T P V P P R M G S R A G G P T T p.20
. . . . . . g.6006
CCGCTGAGCCCCACGCGCCTGTCGCGGCTCCAGGAGAAGGAGGAGCTGCGCGAGCTCAAT c.120
P L S P T R L S R L Q E K E E L R E L N p.40
. . . . . . g.6066
GACCGGCTGGCGGTGTACATCGACAAGGTGCGCAGCCTGGAGACGGAGAACAGCGCGCTG c.180
D R L A V Y I D K V R S L E T E N S A L p.60
. . . . . . g.6126
CAGCTGCAGGTGACGGAGCGCGAGGAGGTGCGCGGCCGTGAGCTCACCGGCCTCAAGGCG c.240
Q L Q V T E R E E V R G R E L T G L K A p.80
. . . . . . g.6186
CTCTACGAGACCGAGCTGGCCGACGCGCGACGCGCGCTCGACGACACGGCCCGCGAGCGC c.300
L Y E T E L A D A R R A L D D T A R E R p.100
. . . . . | 02 g.33154
GCCAAGCTGCAGATCGAGCTGGGCAAGTGCAAGGCGGAACACGACCAGCTGCTCCTCAA | C c.360
A K L Q I E L G K C K A E H D Q L L L N | p.120
. . . . . . g.33214
TATGCTAAGAAGGAATCTGATCTTAATGGCGCCCAGATCAAGCTTCGAGAATATGAAGCA c.420
Y A K K E S D L N G A Q I K L R E Y E A p.140
. . . . . . g.33274
GCACTGAATTCGAAAGATGCAGCTCTTGCTACTGCACTTGGTGACAAAAAAAGTTTAGAG c.480
A L N S K D A A L A T A L G D K K S L E p.160
. . . | 03 . . . g.33972
GGAGATTTGGAGGATCTGAAGGATCAGATTGCCCAG | TTGGAAGCCTCCTTAGCTGCAGCC c.540
G D L E D L K D Q I A Q | L E A S L A A A p.180
. . . . . . g.34032
AAAAAACAGTTAGCAGATGAAACTTTACTTAAAGTAGATTTGGAGAATCGTTGTCAGAGC c.600
K K Q L A D E T L L K V D L E N R C Q S p.200
. . . . | 04 . . g.38575
CTTACTGAGGACTTGGAGTTTCGCAAAAGCATGTATGAAGAG | GAGATTAACGAGACCAGA c.660
L T E D L E F R K S M Y E E | E I N E T R p.220
. . . . . . g.38635
AGGAAGCATGAAACGCGCTTGGTAGAGGTGGATTCTGGGCGTCAAATTGAGTATGAGTAC c.720
R K H E T R L V E V D S G R Q I E Y E Y p.240
. . . . . . g.38695
AAGCTGGCGCAAGCCCTTCATGAGATGAGAGAGCAACATGATGCCCAAGTGAGGCTGTAT c.780
K L A Q A L H E M R E Q H D A Q V R L Y p.260
. . . | 05 . . . g.40177
AAGGAGGAGCTGGAGCAGACTTACCATGCCAAA | CTTGAGAATGCCAGACTGTCATCAGAG c.840
K E E L E Q T Y H A K | L E N A R L S S E p.280
. . . . . . g.40237
ATGAATACTTCTACTGTCAACAGTGCCAGGGAAGAACTGATGGAAAGCCGCATGAGAATT c.900
M N T S T V N S A R E E L M E S R M R I p.300
. . . | 06 . . g.47320
GAGAGCCTTTCATCCCAGCTTTCTAATCTACAGAAAGAG | TCTAGAGCATGTTTGGAAAGG c.960
E S L S S Q L S N L Q K E | S R A C L E R p.320
. . . . . . g.47380
ATTCAAGAATTAGAGGACTTGCTTGCTAAAGAAAAAGACAACTCTCGTCGCATGCTGACA c.1020
I Q E L E D L L A K E K D N S R R M L T p.340
. . . . . . g.47440
GACAAAGAGAGAGAGATGGCGGAAATAAGGGATCAAATGCAGCAACAGCTGAATGACTAT c.1080
D K E R E M A E I R D Q M Q Q Q L N D Y p.360
. . . . . . g.47500
GAACAGCTTCTTGATGTAAAGTTAGCCCTGGACATGGAAATCAGTGCTTACAGGAAACTC c.1140
E Q L L D V K L A L D M E I S A Y R K L p.380
. . | 07 . . . . g.49327
TTAGAAGGCGAAGAAGAGAG | GTTGAAGCTGTCTCCAAGCCCTTCTTCCCGTGTGACAGTA c.1200
L E G E E E R | L K L S P S P S S R V T V p.400
. . . . . . g.49387
TCCCGAGCATCCTCAAGTCGTAGTGTACGTACAACTAGAGGAAAGCGGAAGAGGGTTGAT c.1260
S R A S S S R S V R T T R G K R K R V D p.420
. . . . . . g.49447
GTGGAAGAATCAGAGGCGAGTAGTAGTGTTAGCATCTCTCATTCCGCCTCAGCCACTGGA c.1320
V E E S E A S S S V S I S H S A S A T G p.440
. . . . . . g.49507
AATGTTTGCATCGAAGAAATTGATGTTGATGGGAAATTTATCCGCTTGAAGAACACTTCT c.1380
N V C I E E I D V D G K F I R L K N T S p.460
| 08 . . . . . . g.51212
GAACAG | GATCAACCAATGGGAGGCTGGGAGATGATCAGAAAAATTGGAGACACATCAGTC c.1440
E Q | D Q P M G G W E M I R K I G D T S V p.480
. . . . . | 09 . g.54374
AGTTATAAATATACCTCAAGATATGTGCTGAAGGCAGGCCAGACTGTTACA | ATTTGGGCT c.1500
S Y K Y T S R Y V L K A G Q T V T | I W A p.500
. . . . . . g.54434
GCAAACGCTGGTGTCACAGCCAGCCCCCCAACTGACCTCATCTGGAAGAACCAGAACTCG c.1560
A N A G V T A S P P T D L I W K N Q N S p.520
. . . . . | 10 . g.61080
TGGGGCACTGGCGAAGATGTGAAGGTTATATTGAAAAATTCTCAGGGAGAG | GAGGTTGCT c.1620
W G T G E D V K V I L K N S Q G E | E V A p.540
. . . . . . g.61140
CAAAGAAGTACAGTCTTTAAAACAACCATACCTGAAGAAGAGGAGGAGGAGGAAGAAGCA c.1680
Q R S T V F K T T I P E E E E E E E E A p.560
. . . | 11 . . g.64621
GCTGGAGTGGTTGTTGAGGAAGAACTTTTCCACCAGCAG | GGAACCCCAAGAGCATCCAAT c.1740
A G V V V E E E L F H Q Q | G T P R A S N p.580
. . g.64642
AGAAGCTGTGCAATTATGTAA c.1761
R S C A I M X p.586
. . . . . . g.64702
aattttcaactgtcttcctcaaaataaagaagtatggtaatctttacctgtatacagtgc c.*60
. . . . . . g.64762
agagccttctcagaagcacagaatatttttatatttcctttatgtgaatttttaagctgc c.*120
. . . . . . g.64822
aaatctgatggccttaatttcctttttgacactgaaagttttgtaaaagaaatcatgtcc c.*180
. . . . . . g.64882
atacactttgttgcaagatgtgaattattgacactgaacttaataactgtgtactgttcg c.*240
. . . . . . g.64942
gaaggggttcctcaaattttttgactttttttgtatgtgtgttttttctttttttttaag c.*300
. . . . . . g.65002
ttcttatgaggaggggagggtaaataaaccactgtgcgtcttggtgtaatttgaagattg c.*360
. . . . . . g.65062
ccccatctagactagcaatctcttcattattctctgctatatataaaacggtgctgtgag c.*420
. . . . . . g.65122
ggaggggaaaagcatttttcaatatattgaacttttgtactgaatttttttgtaataagc c.*480
. . . . . . g.65182
aatcaaggttataattttttttaaaatagaaattttgtaagaaggcaatattaacctaat c.*540
. . . . . . g.65242
caccatgtaagcactctggatgatggattccacaaaacttggttttatggttacttcttc c.*600
. . . . . . g.65302
tcttagattcttaattcatgaggagggtgggggagggaggtggagggagggaagggtttc c.*660
. . . . . . g.65362
tctattaaaatgcattcgttgtgttttttaagatagtgtaacttgcttaaatttcttatg c.*720
. . . g.65398
tgacattaacaaataaaaaagctcttttaatattga c.*756
(downstream sequence)
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