(used for variant description)
(last modified December 30, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_170707.3 in the LMNA gene based on a coding DNA reference sequence following the HGVS recommendations. The sequence was taken from NG_008692.1, covering LMNA transcript variant 1 (NM_170707.2). Lamin-C is encoded by transcript variant 2, terminating in intron 10 (NM_005572.3). Transcript variant 3 (NM_170708.2) skips exon 10.
Please note that introns are available by clicking on the exon numbers above the sequence.
(upstream sequence)
g.37101
aggaggacc c.-241
. . . . . . g.37161
tattagagcctttgccccggcgtcggtgactcagtgttcgcgggagcgccgcacctacac c.-181
. . . . . . g.37221
cagccaacccagatcccgaggtccgacagcgcccggcccagatccccacgcctgccagga c.-121
. . . . . . g.37281
gcaagccgagagccagccggccggcgcactccgactccgagcagtctctgtccttcgacc c.-61
. . . . . . g.37341
cgagccccgcgccctttccgggacccctgccccgcgggcagcgctgccaacctgccggcc c.-1
. . . . . . g.37401
ATGGAGACCCCGTCCCAGCGGCGCGCCACCCGCAGCGGGGCGCAGGCCAGCTCCACTCCG c.60
M E T P S Q R R A T R S G A Q A S S T P p.20
. . . . . . g.37461
CTGTCGCCCACCCGCATCACCCGGCTGCAGGAGAAGGAGGACCTGCAGGAGCTCAATGAT c.120
L S P T R I T R L Q E K E D L Q E L N D p.40
. . . . . . g.37521
CGCTTGGCGGTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGCAGGGCTGCGC c.180
R L A V Y I D R V R S L E T E N A G L R p.60
. . . . . . g.37581
CTTCGCATCACCGAGTCTGAAGAGGTGGTCAGCCGCGAGGTGTCCGGCATCAAGGCCGCC c.240
L R I T E S E E V V S R E V S G I K A A p.80
. . . . . . g.37641
TACGAGGCCGAGCTCGGGGATGCCCGCAAGACCCTTGACTCAGTAGCCAAGGAGCGCGCC c.300
Y E A E L G D A R K T L D S V A K E R A p.100
. . . . . | 02 . g.53043
CGCCTGCAGCTGGAGCTGAGCAAAGTGCGTGAGGAGTTTAAGGAGCTGAAAGCGCG | CAAT c.360
R L Q L E L S K V R E E F K E L K A R | N p.120
. . . . . . g.53103
ACCAAGAAGGAGGGTGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGGCTCTG c.420
T K K E G D L I A A Q A R L K D L E A L p.140
. . . . . . g.53163
CTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCAGTGAGAAGCGCACGCTGGAGGGC c.480
L N S K E A A L S T A L S E K R T L E G p.160
. . . | 03 . . . g.56852
GAGCTGCATGATCTGCGGGGCCAGGTGGCCAAG | CTTGAGGCAGCCCTAGGTGAGGCCAAG c.540
E L H D L R G Q V A K | L E A A L G E A K p.180
. . . . . . g.56912
AAGCAACTTCAGGATGAGATGCTGCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATG c.600
K Q L Q D E M L R R V D A E N R L Q T M p.200
. . . | 04 . . g.57248
AAGGAGGAACTGGACTTCCAGAAGAACATCTACAGTGAG | GAGCTGCGTGAGACCAAGCGC c.660
K E E L D F Q K N I Y S E | E L R E T K R p.220
. . . . . . g.57308
CGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGCGTGAGTTTGAGAGCCGG c.720
R H E T R L V E I D N G K Q R E F E S R p.240
. . . . . . g.57368
CTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAG c.780
L A D A L Q E L R A Q H E D Q V E Q Y K p.260
. . . | 05 . . . g.57639
AAGGAGCTGGAGAAGACTTATTCTGCCAAG | CTGGACAATGCCAGGCAGTCTGCTGAGAGG c.840
K E L E K T Y S A K | L D N A R Q S A E R p.280
. . . . . . g.57699
AACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGTCGCGCATCCGCATCGAC c.900
N S N L V G A A H E E L Q Q S R I R I D p.300
. . . | 06 . . . g.58347
AGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAG | CTGGCAGCCAAGGAGGCGAAGCTT c.960
S L S A Q L S Q L Q K Q | L A A K E A K L p.320
. . . . . . g.58407
CGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAA c.1020
R D L E D S L A R E R D T S R R L L A E p.340
. . . . . . g.58467
AAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGCAGCTGGACGAGTACCAG c.1080
K E R E M A E M R A R M Q Q Q L D E Y Q p.360
. . . . . . g.58527
GAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTG c.1140
E L L D I K L A L D M E I H A Y R K L L p.380
. | 07. . . . . g.58679
GAGGGCGAGGAGGAGAG | GCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGC c.1200
E G E E E R | L R L S P S P T S Q R S R G p.400
. . . . . . g.58739
CGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTCACCAAAAAGCGCAAA c.1260
R A S S H S S Q T Q G G G S V T K K R K p.420
. . . . . . g.58799
CTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTG c.1320
L E S T E S R S S F S Q H A R T S G R V p.440
. . . . . . g.58859
GCCGTGGAGGAGGTGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAG c.1380
A V E E V D E E G K F V R L R N K S N E p.460
| 08 . . . . . . g.59403
| GACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAGATGATCCCTTGCTGACT c.1440
| D Q S M G N W Q I K R Q N G D D P L L T p.480
. . . . | 09 . g.59547
TACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACG | ATCTGGGCTGCA c.1500
Y R F P P K F T L K A G Q V V T | I W A A p.500
. . . . . . g.59607
GGAGCTGGGGCCACCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGG c.1560
G A G A T H S P P T D L V W K A Q N T W p.520
. . . . | 10 . g.60088
GGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTGGGGAA | GAAGTGGCCATG c.1620
G C G N S L R T A L I N S T G E | E V A M p.540
. . . . . . g.60148
CGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGAC c.1680
R K L V R S V T V V E D D E D E D G D D p.560
. | 11 . . . . g.60952
CTGCTCCATCACCACCAC | GGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAAC c.1740
L L H H H H | G S H C S S S G D P A E Y N p.580
. . . . . . g.61012
CTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTGCCGACAAGGCATCTGCC c.1800
L R S R T V L C G T C G Q P A D K A S A p.600
. . . . . . g.61072
AGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTC c.1860
S G S G A Q V G G P I S S G S S A S S V p.620
. . . . . . g.61132
ACGGTCACTCGCAGCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAAT c.1920
T V T R S Y R S V G G S G G G S F G D N p.640
. . . . | 12 . g.61514
CTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAACCCAG | AGCCCCCAGAAC c.1980
L V T R S Y L L G N S S P R T Q | S P Q N p.660
. g.61529
TGCAGCATCATGTAA c.1995
C S I M X p.664
. . . . . . g.61589
tctgggacctgccaggcaggggtgggggtggaggcttcctgcgtcctcctcacctcatgc c.*60
. . . . . . g.61649
ccaccccctgccctgcacgtcatgggagggggcttgaagccaaagaaaaataaccctttg c.*120
. . . . . . g.61709
gtttttttcttctgtatttttttttctaagagaagttattttctacagtggttttatact c.*180
. . . . . . g.61769
gaaggaaaaacacaagcaaaaaaaaaaaaaagcatctatctcatctatctcaatcctaat c.*240
. . . . . . g.61829
ttctcctcccttccttttccctgcttccaggaaactccacatctgccttaaaaccaaaga c.*300
. . . . . . g.61889
gggcttcctctagaagccaagggaaaggggtgcttttatagaggctagcttctgcttttc c.*360
. . . . . . g.61949
tgccctggctgctgcccccaccccggggaccctgtgacatggtgcctgagaggcaggcat c.*420
. . . . . . g.62009
agaggcttctccgccagcctcctctggacggcaggctcactgccaggccagcctccgaga c.*480
. . . . . . g.62069
gggagagagagagagagaggacagcttgagccgggcccctgggcttggcctgctgtgatt c.*540
. . . . . . g.62129
ccactacacctggctgaggttcctctgcctgccccgcccccagtccccacccctgccccc c.*600
. . . . . . g.62189
agccccggggtgagtccattctcccaggtaccagctgcgcttgcttttctgtattttatt c.*660
. . . . . . g.62249
tagacaagagatgggaatgaggtgggaggtggaagaagggagaagaaaggtgagtttgag c.*720
. . . . . . g.62309
ctgccttccctagctttagaccctgggtgggctctgtgcagtcactggaggttgaagcca c.*780
. . . . . . g.62369
agtggggtgctgggaggagggagagggaggtcactggaaaggggagagcctgctggcacc c.*840
. . . . . . g.62429
caccgtggaggaggaaggcaagagggggtggaggggtgtggcagtggttttggcaaacgc c.*900
. . . . . . g.62489
taaagagcccttgcctccccatttcccatctgcaccccttctctcctccccaaatcaata c.*960
. . g.62512
cactagttgtttctacccctggc c.*983
(downstream sequence)
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