(used for variant description)
(last modified December 22, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_198271.3 in the LMOD3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000003.11, covering LMOD3 transcript NM_198271.3.
(upstream sequence)
. . g.5029
aatatagatccggcaagagcttagctgtg c.-181
. . . . . . g.5089
atcactcctagctgctcagcaaaccactgaggttcctgggaaaaaaaaaaaaatatctca c.-121
. . . . . . g.5149
agggtgtgttaacttgggacactcgttaactgggggaccttcttgaggcttttttccttc c.-61
. . . . . . g.5209
tttttaaaaatcatctttgattattcttcttttctagtaaaataatatttagaaaaaata c.-1
. . . . . . g.5269
ATGTCAGAGCACAGCAGAAATTCAGATCAAGAAGAACTTCTCGATGAGGAGATTAATGAA c.60
M S E H S R N S D Q E E L L D E E I N E p.20
. . . . . . g.5329
GATGAAATCTTGGCCAACTTGTCTGCTGAAGAACTGAAAGAACTGCAGTCGGAAATGGAA c.120
D E I L A N L S A E E L K E L Q S E M E p.40
. . . . . . g.5389
GTCATGGCCCCTGACCCCAGCCTTCCCGTGGGAATGATTCAGAAAGATCAAACTGACAAG c.180
V M A P D P S L P V G M I Q K D Q T D K p.60
. . . . . . g.5449
CCACCGACAGGAAACTTCAATCATAAATCTCTTGTTGATTATATGTATTGGGAAAAGGCA c.240
P P T G N F N H K S L V D Y M Y W E K A p.80
. . . . . | 02 . g.7541
TCCAGGCGCATGCTGGAAGAGGAACGAGTTCCTGTCACCTTTGTGAAATCCGAG | GAAAAG c.300
S R R M L E E E R V P V T F V K S E | E K p.100
. . . . . . g.7601
ACTCAAGAAGAGCATGAAGAAATAGAAAAACGTAATAAAAATATGGCCCAGTATTTAAAA c.360
T Q E E H E E I E K R N K N M A Q Y L K p.120
. . . . . . g.7661
GAAAAGCTCAATAATGAAATAGTTGCAAATAAAAGAGAATCAAAGGGCAGCAGCAATATC c.420
E K L N N E I V A N K R E S K G S S N I p.140
. . . . . . g.7721
CAAGAAACAGATGAAGAAGATGAAGAAGAAGAAGATGATGATGATGACGACGAAGGAGAA c.480
Q E T D E E D E E E E D D D D D D E G E p.160
. . . . . . g.7781
GATGATGGTGAAGAGAGTGAAGAAACGAACAGAGAAGAGGAAGGCAAAGCAAAGGAACAA c.540
D D G E E S E E T N R E E E G K A K E Q p.180
. . . . . . g.7841
ATTAGAAATTGTGAGAACAACTGCCAGCAGGTAACTGACAAAGCATTCAAAGAACAGAGA c.600
I R N C E N N C Q Q V T D K A F K E Q R p.200
. . . . . . g.7901
GACAGACCAGAGGCCCAAGAACAAAGTGAGAAAAAAATATCGAAATTAGATCCTAAGAAG c.660
D R P E A Q E Q S E K K I S K L D P K K p.220
. . . . . . g.7961
TTAGCTCTAGACACCAGCTTTTTGAAGGTAAGTACAAGGCCTTCAGGAAACCAGACAGAC c.720
L A L D T S F L K V S T R P S G N Q T D p.240
. . . . . . g.8021
CTGGATGGGAGCTTGAGGAGAGTTAGGAAAAATGATCCTGACATGAAGGAACTCAACCTG c.780
L D G S L R R V R K N D P D M K E L N L p.260
. . . . . . g.8081
AACAACATTGAAAACATCCCCAAAGAAATGTTACTGGACTTTGTCAATGCAATGAAGAAA c.840
N N I E N I P K E M L L D F V N A M K K p.280
. . . . . . g.8141
AACAAGCACATCAAAACATTCAGTTTAGCCAATGTGGGTGCAGATGAGAATGTAGCATTT c.900
N K H I K T F S L A N V G A D E N V A F p.300
. . . . . . g.8201
GCCTTGGCTAACATGTTGCGTGAAAATAGAAGCATCACCACTCTCAACATCGAGTCCAAT c.960
A L A N M L R E N R S I T T L N I E S N p.320
. . . . . . g.8261
TTCATCACAGGTAAAGGGATTGTGGCCATCATGAGGTGTCTCCAGTTTAATGAGACGCTA c.1020
F I T G K G I V A I M R C L Q F N E T L p.340
. . . . . . g.8321
ACTGAGCTTCGGTTTCACAATCAGAGGCACATGTTGGGTCACCATGCTGAAATGGAAATA c.1080
T E L R F H N Q R H M L G H H A E M E I p.360
. . . . . . g.8381
GCCAGGCTTTTGAAGGCAAACAACACTCTCCTGAAGATGGGCTACCATTTTGAGCTTCCG c.1140
A R L L K A N N T L L K M G Y H F E L P p.380
. . . . . . g.8441
GGTCCCAGAATGGTGGTCACTAATCTGCTCACCAGGAATCAGGATAAACAAAGGCAGAAA c.1200
G P R M V V T N L L T R N Q D K Q R Q K p.400
. . . . . . g.8501
CGACAGGAAGAGCAAAAACAGCAGCAACTCAAGGAACAGAAGAAGCTGATAGCCATGTTA c.1260
R Q E E Q K Q Q Q L K E Q K K L I A M L p.420
. . . . . . g.8561
GAGAATGGGTTGGGGCTGCCCCCTGGGATGTGGGAGCTGTTGGGAGGACCCAAGCCAGAT c.1320
E N G L G L P P G M W E L L G G P K P D p.440
. . . . . . g.8621
TCCAGAATGCAGGAATTCTTCCAGCCACCGCCACCTCGGCCTCCCAACCCCCAAAATGTC c.1380
S R M Q E F F Q P P P P R P P N P Q N V p.460
. . . . . . g.8681
CCCTTTAGTCAACGCAGTGAAATGATGAAAAAGCCATCGCAGGCCCCGAAGTACAGGACA c.1440
P F S Q R S E M M K K P S Q A P K Y R T p.480
. . . . . . g.8741
GACCCTGACTCCTTCCGGGTGGTGAAGCTGAAGAGAATCCAGCGCAAATCTCGGATGCCG c.1500
D P D S F R V V K L K R I Q R K S R M P p.500
. . . . . . g.8801
GAAGCCAGAGAACCACCCGAGAAAACCAACCTCAAAGATGTCATCAAAACGCTCAAGCCA c.1560
E A R E P P E K T N L K D V I K T L K P p.520
. . . . . . g.8861
GTGCCGAGAAACAGGCCACCCCCATTGGTGGAAATCACTCCCAGAGATCAGCTGCTAAAC c.1620
V P R N R P P P L V E I T P R D Q L L N p.540
. . . | 03 . . . g.18498
GACATTCGTCACAGCAGTGTCGCCTATCTTAAACCT | GTGCAACTGCCAAAAGAACTGGCG c.1680
D I R H S S V A Y L K P | V Q L P K E L A p.560
g.18501
TAA c.1683
X p.560
. . . . . . g.18561
gaggcaacagagccatctagaagaacaagaaatggaaatagtgactcttggattacagca c.*60
. . . . . . g.18621
tggagactatgtcagcagcaatactttaggatccacgtggcagaactggaaacaatgcta c.*120
. . . . . . g.18681
ccatctgataagggtatttgtaaaaggcagaatgtttgggccatgaagaagtaggggctg c.*180
. . . . . . g.18741
aagaggaaggtggaaggagataaaatataatatttagaggcaatattttctacttgcaat c.*240
. . . . . . g.18801
caatttgagtgactcaggtgaaatttagagtcatatttcccgaagcagaagttaaagaaa c.*300
. . . . . . g.18861
attttttaaacatttgctttattattgttttcttctggtaaataataaatataacagaag c.*360
. . . . . . g.18921
tgttaactattgtattcccatttttttctccttccatctcttctgcggtaattcatcaca c.*420
. . . . . . g.18981
tagtatcttaaagggaacaaataatgtttcatcctatggaaatgtgaaggatgaattgag c.*480
. . . . . . g.19041
ctcctggcccttctgatgctttgaaatggaaggattgttccttagagcttctctgcagaa c.*540
. . . . . . g.19101
tcagtggagattttcagtttcccaccctgcctggctttctctcttggtgactcccttggt c.*600
. . . . . . g.19161
gttttggagtattctttctataggggtacctgtgaggggcagaacacgtaagccacagaa c.*660
. . . . . . g.19221
catggtgaaaactaagtgtcactaggaaaagtaatgggaaagtaaaccctgcatatatga c.*720
. . . . . . g.19281
aaacttcctggcagcaagttttcatatatagagggacaatgggagacagcatgctgtttt c.*780
. . . . . . g.19341
tatagaaaagaagttttacataatatagttattgacaagcttttggttttggctaaatac c.*840
. . . . . . g.19401
acacacacacacacacgctcatatgtgtttactctgtaagtctaatttgattttatcact c.*900
. . . . . . g.19461
ctcaaacatattttaaaggaaacttgcttacaggaaggattaaacttgaactacttatcc c.*960
. . . . . . g.19521
tattctttaaggcactccattgcctggccccaatttactaatcctgtcttatttcccaca c.*1020
. . . . . . g.19581
aatcctttatactctactcgatgaaacatccttgtgcacacccttgtgcctttgctcgca c.*1080
. . . . . . g.19641
ttaatccttccaagagacttccctcctgttctccattaatgaacgtcctacccagtcttc c.*1140
. . . . . . g.19701
aactcccgggtcagatcctgtgtcctccataaaaaattttccagacaactccaatctgtc c.*1200
. . . . . . g.19761
cttcttccaagttcctagaggccttaattattcattctagccactaggtgcatagaattt c.*1260
. . . . . . g.19821
gagatttttgtaataatagaagtagtgtgaaccctagaaattagaaaatcaagctttggg c.*1320
. . . . . . g.19881
ccaggtgcggtggctcatgcctgtaatcccagcactatgggaggccagggagggaggatc c.*1380
. . . . . . g.19941
tccagaggtcaggagttcgagaccagcctggccaacatggtgaaaccccgtctctattaa c.*1440
. . . . . . g.20001
aaatacaaaaattagctgggcatgatggcaggcacctgtaatcccagctactcgggaggc c.*1500
. . . . . . g.20061
tgaggcaggagaattgcttgaactggggaggcagaggttgcagtgagacaagatcacgtc c.*1560
. . . . . . g.20121
actgtactccagcctgggtgacagagtgatactccatctcaaaaaaaaaaaaaaaaaaaa c.*1620
. . . . . . g.20181
aaaaaaaaaaaaaaaaaaaaacctttggtgccttttctctcttctttacctgagtaaata c.*1680
. . . . . . g.20241
attggcacctgccttctttctccttttatgttatcataagtggcatgtatcaaaccaaac c.*1740
. . . . . . g.20301
aggctaggggagaataggtctaattgtgacagacttaaaaacaacacattatttggaaag c.*1800
. . . . . . g.20361
acaagccatgggaaagaaatatggcgtttctatttttttaagataatttagtatgtacaa c.*1860
. . . . . . g.20421
aagtatccaaatttaaatatagttttcaatggctgatagttttgttttctcacccttcaa c.*1920
. . . . . . g.20481
tatttctagaaaacatccttgcatacaaagcaggatagctaagaaagggctgtaacaaac c.*1980
. . . . . . g.20541
aaaacttcaagtgtctagcacatactacatctaagaggctaaactctgataggaaaagca c.*2040
. . . . . . g.20601
ctttaaacataattaaaagcttaatgtaaattagtagttgaaattctaggccggtgcggt c.*2100
. . . . . . g.20661
ggctcatgcctgtaatcccagcactgtaggcggccgaggtgggtgaatcacatgaggtca c.*2160
. . . . g.20708
ggagttcaagaccagcctgaccaacatggtgaaaccccatttctact c.*2207
(downstream sequence)
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