(used for variant description)
(last modified April 25, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_014564.3 in the LHX3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008097.1, covering LHX3 transcript NM_014564.3.
(upstream sequence)
. . . . . g.7010
cgcagcgcccagcagcacccggagtcgcttggacgccggttcggggctattgcggggtg c.-61
. . . . . . g.7070
gcgtcgctgggcccgggaaagttcgggactggagagtggcgacgccgggcggcgggaccc c.-1
. . . . . . g.7130
ATGGAGGCGCGCGGGGAGCTGGGCCCGGCCCGGGAGTCGGCGGGAGGCGACCTGCTGCTA c.60
M E A R G E L G P A R E S A G G D L L L p.20
. . . | 02 . . . g.9382
GCACTGCTGGCGCGGAGGGCGGACCTGCGCCGAG | AGATCCCGCTGTGCGCTGGCTGTGAC c.120
A L L A R R A D L R R E | I P L C A G C D p.40
. . . . . . g.9442
CAGCACATCCTGGACCGCTTCATCCTCAAGGCTCTGGACCGCCACTGGCACAGCAAGTGT c.180
Q H I L D R F I L K A L D R H W H S K C p.60
. . . . . . g.9502
CTCAAGTGCAGCGACTGCCACACGCCACTGGCCGAGCGCTGCTTCAGCCGAGGGGAGAGC c.240
L K C S D C H T P L A E R C F S R G E S p.80
. . | 03 . . . . g.10263
GTTTACTGCAAGGACGACTTTTTCAA | GCGCTTCGGGACCAAGTGCGCCGCGTGCCAGCTG c.300
V Y C K D D F F K | R F G T K C A A C Q L p.100
. . . . . . g.10323
GGCATCCCGCCCACGCAGGTGGTGCGCCGCGCCCAGGACTTCGTGTACCACCTGCACTGC c.360
G I P P T Q V V R R A Q D F V Y H L H C p.120
. . . . . . g.10383
TTTGCCTGCGTCGTGTGCAAGCGGCAGCTGGCCACGGGCGACGAGTTCTACCTCATGGAG c.420
F A C V V C K R Q L A T G D E F Y L M E p.140
. . . . | 04 . g.11061
GACAGCCGGCTCGTGTGCAAGGCGGACTACGAAACCGCCAAGCAGCGAG | AGGCCGAGGCC c.480
D S R L V C K A D Y E T A K Q R E | A E A p.160
. . . . . . g.11121
ACGGCCAAGCGGCCGCGCACGACCATCACCGCCAAGCAGCTGGAGACGCTGAAGAGCGCT c.540
T A K R P R T T I T A K Q L E T L K S A p.180
. . . . . . g.11181
TACAACACCTCGCCCAAGCCGGCGCGCCACGTGCGCGAGCAGCTCTCGTCCGAGACGGGC c.600
Y N T S P K P A R H V R E Q L S S E T G p.200
. . | 05 . . . . g.11328
CTGGACATGCGCGTGGTGCAG | GTTTGGTTCCAGAACCGCCGGGCCAAGGAGAAGAGGCTG c.660
L D M R V V Q | V W F Q N R R A K E K R L p.220
. . . . . . g.11388
AAGAAGGACGCCGGCCGGCAGCGCTGGGGGCAGTATTTCCGCAACATGAAGCGCTCCCGC c.720
K K D A G R Q R W G Q Y F R N M K R S R p.240
. . . . . . g.11448
GGCGGCTCCAAGTCGGACAAGGACAGCGTTCAGGAGGGGCAGGACAGCGACGCTGAGGTC c.780
G G S K S D K D S V Q E G Q D S D A E V p.260
. | 06 . . . . . g.12416
TCCTTCCCCG | ATGAGCCTTCCTTGGCGGAAATGGGCCCGGCCAATGGCCTCTACGGGAGC c.840
S F P D | E P S L A E M G P A N G L Y G S p.280
. . . . . . g.12476
TTGGGGGAACCCACCCAGGCCTTGGGCCGGCCCTCGGGAGCCCTGGGCAACTTCTCCCTG c.900
L G E P T Q A L G R P S G A L G N F S L p.300
. . . . . . g.12536
GAGCATGGAGGCCTGGCAGGCCCAGAGCAGTACCGAGAGCTGCGTCCCGGCAGCCCCTAC c.960
E H G G L A G P E Q Y R E L R P G S P Y p.320
. . . . . . g.12596
GGTGTCCCCCCATCCCCCGCCGCCCCGCAGAGCCTCCCTGGCCCCCAGCCCCTCCTCTCC c.1020
G V P P S P A A P Q S L P G P Q P L L S p.340
. . . . . . g.12656
AGCCTGGTGTACCCAGACACCAGCTTGGGCCTTGTGCCCTCGGGAGCCCCCGGCGGGCCC c.1080
S L V Y P D T S L G L V P S G A P G G P p.360
. . . . . . g.12716
CCACCCATGAGGGTGCTGGCAGGGAACGGACCCAGTTCTGACCTATCCACGGGGAGCAGC c.1140
P P M R V L A G N G P S S D L S T G S S p.380
. . . . . . g.12776
GGGGGTTACCCCGACTTCCCTGCCAGCCCCGCCTCCTGGCTGGATGAGGTAGACCACGCT c.1200
G G Y P D F P A S P A S W L D E V D H A p.400
g.12785
CAGTTCTGA c.1209
Q F X p.402
. . . . . . g.12845
cccaggcccggctccaccctgcacctcacacgagggagctgcccctgggtgggcggctcg c.*60
. . . . . . g.12905
gggctgctggggtttccgaggaagtggggccagggcgtcaagggagggctggtgccttcg c.*120
. . . . . . g.12965
gagcctcccactgccgaccgcacagctccctctctgggggctgagggacccacctggccc c.*180
. . . . . . g.13025
ctcctctgacacagggctggcccgccaggtggcctcccagcaagccagccttttttgtaa c.*240
. . . . . . g.13085
gcaaatttctcccctttattgaccaattaactgagcacttgctgctatttctagacatga c.*300
. . . . . . g.13145
aatgtcaccttgctgaggcccagcccagcccagcatagcccgagggctggaaaaacgctt c.*360
. . . . . . g.13205
tcatctctaaaactgagaaatcatcataattgtgctttcacttcccaggctccatgtgtc c.*420
. . . . . . g.13265
ttggagccgtcaccccgaggctccctctttaggtcggagattggccttgcctgtcgaggc c.*480
. . . . . . g.13325
aagaggctgcagaggcggggacacacctgtgtcctccgggagaggccccctcctctcccc c.*540
. . . . . . g.13385
agaccacagggggcctctctgcctccagccccaccttccccgggagaagctttccccaat c.*600
. . . . . . g.13445
ccccaggtctctagatcattctgttctcgagtatcctgtggaggaggcaaaaatgcctgg c.*660
. . . . . . g.13505
cgccccttctctccaagctcaattctctaagcccctcagggtctcctcctcaccccaccc c.*720
. . . . . . g.13565
caggcccttggtgtccaggctgcacccacagatgtctgttgccaaacagcctgccctccc c.*780
. . . . . . g.13625
tgccggagccggctctgccagccccagattgggaagtctccccgctggagaagggtgggg c.*840
. . . . . . g.13685
ctcctctgagcctgccctgcctcctccatcagatcctttgggaagaagtttctgggagat c.*900
. . . . . . g.13745
gcccgcagctgtgcgtgccccagacacaaaggctggcctgtgtgtaagtcaaagtcactc c.*960
. . . . . . g.13805
ccgcaaacctgaatctcgagctacctattggttctgtgaatgttctgtgtcttttattta c.*1020
. . . . . g.13860
ttctcgggtgatcagctctttccaagacttcaataaatttgtcagttacagtcaa c.*1075
(downstream sequence)
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