(used for variant description)
(last modified November 8, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_001130144.2 in the LTBP3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering LTBP3 transcript NM_001130144.2.
(upstream sequence)
. . g.5029
cttgctccggcctcctcgctcctgcctga c.-241
. . . . . . g.5089
gttcggggcctggtctgggcttcgtcctggggctgggaagtttctgcgctccccgctgtc c.-181
. . . . . . g.5149
cagtctgcatctccgcgcctcccgccgggcccccgcggtcccctcccgcccgcttccccc c.-121
. . . . . . g.5209
gctgccctccctcgctgccccctaccctctcccggggctcccggccctctactcccttcg c.-61
. . . . . . g.5269
ggcgcgggcccctcgccccgcccgggcgcgccccccctcccccgggtcctgcggccccgg c.-1
. . . . . . g.5329
ATGCCCGGGCCCCGAGGGGCTGCTGGCGGCCTGGCCCCTGAGATGCGCGGGGCGGGGGCG c.60
M P G P R G A A G G L A P E M R G A G A p.20
. . . . . . g.5389
GCGGGGCTGCTGGCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGGCCTGGGCGGCAGG c.120
A G L L A L L L L L L L L L L G L G G R p.40
. . . . . . g.5449
GTCGAGGGGGGGCCGGCCGGCGAGCGGGGCGCAGGCGGGGGCGGGGCGCTGGCCCGCGAG c.180
V E G G P A G E R G A G G G G A L A R E p.60
. . . . . . g.5509
CGCTTCAAGGTGGTCTTTGCGCCGGTGATCTGCAAGCGGACCTGTCTCAAGGGCCAGTGT c.240
R F K V V F A P V I C K R T C L K G Q C p.80
. . . . . . g.5569
CGGGACAGTTGTCAGCAGGGCTCCAACATGACGCTCATCGGAGAGAACGGCCACAGCACA c.300
R D S C Q Q G S N M T L I G E N G H S T p.100
. . . | 02 . . . g.8877
GACACGCTCACGGGCTCCGGCTTCCGCGTGG | TGGTGTGCCCTCTCCCCTGCATGAATGGC c.360
D T L T G S G F R V V | V C P L P C M N G p.120
. . . . . . g.8937
GGCCAGTGCTCCTCGCGAAACCAGTGCCTGTGTCCCCCGGACTTCACTGGGCGCTTCTGC c.420
G Q C S S R N Q C L C P P D F T G R F C p.140
. . . . . . g.8997
CAGGTGCCCGCAGGAGGAGCCGGTGGGGGTACCGGCGGCTCAGGCCCCGGCCTGAGCAGG c.480
Q V P A G G A G G G T G G S G P G L S R p.160
. . . . . . g.9057
ACAGGGGCCCTGTCCACAGGGGCGCTGCCGCCCCTGGCTCCGGAGGGCGACTCTGTGGCC c.540
T G A L S T G A L P P L A P E G D S V A p.180
. . . . . . g.9117
AGCAAGCACGCCATCTACGCCGTCCAGGTGATCGCTGACCCTCCTGGGCCCGGGGAGGGG c.600
S K H A I Y A V Q V I A D P P G P G E G p.200
. . . . . . g.9177
CCTCCTGCCCAGCACGCAGCCTTCCTGGTGCCCCTAGGCCCGGGACAGATCTCAGCAGAA c.660
P P A Q H A A F L V P L G P G Q I S A E p.220
| 03 . . . . . . g.9384
G | TGCAGGCCCCGCCCCCCGTGGTGAATGTGCGCGTCCATCACCCGCCCGAGGCCTCAGTC c.720
V | Q A P P P V V N V R V H H P P E A S V p.240
. . . . . . g.9444
CAGGTGCACCGCATTGAGAGCTCGAACGCCGAGAGCGCAGCCCCCTCCCAGCACCTGCTG c.780
Q V H R I E S S N A E S A A P S Q H L L p.260
. . . . . . g.9504
CCGCACCCCAAGCCCTCGCACCCCCGGCCGCCCACCCAGAAGCCCCTGGGCCGCTGCTTT c.840
P H P K P S H P R P P T Q K P L G R C F p.280
. . | 04 . . . . g.9734
CAGGACACTCTGCCCAAGCAGCCG | TGTGGCAGCAACCCCCTCCCCGGCCTCACCAAGCAG c.900
Q D T L P K Q P | C G S N P L P G L T K Q p.300
. . . . . . g.9794
GAAGACTGCTGCGGTAGCATCGGCACTGCCTGGGGCCAGAGCAAGTGCCACAAGTGTCCC c.960
E D C C G S I G T A W G Q S K C H K C P p.320
. | 05 . . . . . g.10022
CAGCTGCAGT | ACACAGGAGTGCAGAAGCCAGGGCCTGTACGTGGGGAAGTGGGCGCTGAC c.1020
Q L Q Y | T G V Q K P G P V R G E V G A D p.340
. . . . | 06 . . g.10263
TGTCCCCAGGGCTACAAGAGGCTTAACAGCACCCACTGCCAGG | ACATCAACGAGTGCGCA c.1080
C P Q G Y K R L N S T H C Q D | I N E C A p.360
. . . . . . g.10323
ATGCCGGGCGTGTGTCGCCATGGTGACTGCCTCAACAACCCTGGCTCCTATCGCTGTGTC c.1140
M P G V C R H G D C L N N P G S Y R C V p.380
. . . . | 07 . . g.10836
TGCCCACCTGGCCATAGTTTAGGCCCCTCCCGTACACAGTGCATTG | CAGACAAACCGGAG c.1200
C P P G H S L G P S R T Q C I A | D K P E p.400
. . . . . . g.10896
GAGAAGAGCCTGTGTTTCCGCCTGGTGAGCCCTGAGCACCAGTGCCAGCACCCACTGACC c.1260
E K S L C F R L V S P E H Q C Q H P L T p.420
. . . . . . g.10956
ACCCGCCTGACCCGCCAGCTCTGCTGCTGCAGTGTCGGCAAGGCCTGGGGCGCGCGGTGT c.1320
T R L T R Q L C C C S V G K A W G A R C p.440
. . | 08 . . . . g.11106
CAGCGCTGCCCAACAGATGGCACCG | CTGCGTTCAAGGAGATCTGCCCAGCTGGGAAGGGA c.1380
Q R C P T D G T A | A F K E I C P A G K G p.460
. . . . . . g.11166
TACCACATTCTCACCTCCCACCAGACGCTCACCATTCAGGGCGAGAGTGACTTTTCCCTT c.1440
Y H I L T S H Q T L T I Q G E S D F S L p.480
. . . . . . g.11226
TTCCTGCACCCTGACGGGCCACCCAAGCCCCAGCAGCTTCCGGAGAGCCCTAGCCAGGCT c.1500
F L H P D G P P K P Q Q L P E S P S Q A p.500
. . . | 09 . | 10 . g.11766
CCACCACCTGAGGACACAGAGGAAGAGAGAG | GGGTGACCACGGACTCA | CCGGTGAGTGAG c.1560
P P P E D T E E E R G | V T T D S | P V S E p.520
. . . . . . g.11826
GAGAGGTCAGTGCAGCAGAGCCACCCAACTGCCACCACGACTCCTGCCCGGCCCTACCCC c.1620
E R S V Q Q S H P T A T T T P A R P Y P p.540
| 11 . . . . . . g.12063
G | AGCTGATCTCCCGTCCCTCGCCCCCGACCATGCGCTGGTTCCTGCCGGACTTGCCTCCT c.1680
E | L I S R P S P P T M R W F L P D L P P p.560
. . . . | 12 . . g.15203
TCCCGCAGCGCCGTAGAGATCGCTCCCACTCAGGTCACAG | AGACTGATGAGTGCCGACTG c.1740
S R S A V E I A P T Q V T E | T D E C R L p.580
. . . . . . g.15263
AACCAGAACATCTGTGGCCACGGAGAGTGCGTGCCGGGCCCCCCTGACTACTCCTGCCAC c.1800
N Q N I C G H G E C V P G P P D Y S C H p.600
. . . . | 13 . . g.15421
TGCAACCCCGGCTACCGGTCACATCCCCAGCACCGCTACTGCGTGG | ATGTGAACGAGTGC c.1860
C N P G Y R S H P Q H R Y C V D | V N E C p.620
. . . . . . g.15481
GAGGCAGAGCCCTGTGGCCCGGGGAGGGGCATCTGCATGAACACCGGCGGCTCCTACAAT c.1920
E A E P C G P G R G I C M N T G G S Y N p.640
. . . . . | 14 g.15663
TGCCACTGCAACCGCGGCTACCGCCTGCACGTGGGCGCCGGGGGGCGCTCGTGCGTGG | AC c.1980
C H C N R G Y R L H V G A G G R S C V D | p.660
. . . . . . g.15723
CTGAACGAATGCGCCAAGCCCCACCTGTGCGGCGACGGCGGCTTCTGCATCAACTTTCCC c.2040
L N E C A K P H L C G D G G F C I N F P p.680
. . . . . . g.15783
GGTCACTACAAGTGCAACTGCTACCCCGGCTACCGGCTCAAAGCCTCCCGGCCTCCTGTG c.2100
G H Y K C N C Y P G Y R L K A S R P P V p.700
| 15. . . . . . g.16361
TGCGAAG | ACATCGACGAGTGCCGGGACCCAAGCTCTTGCCCGGATGGCAAATGCGAGAAC c.2160
C E D | I D E C R D P S S C P D G K C E N p.720
. . . . . . g.16421
AAGCCCGGGAGCTTCAAGTGCATCGCCTGTCAGCCTGGCTACCGCAGCCAGGGGGGCGGG c.2220
K P G S F K C I A C Q P G Y R S Q G G G p.740
. | 16 . . . . . g.16714
GCCTGTCGCG | ACGTGAACGAGTGCGCCGAGGGCAGCCCCTGCTCGCCTGGCTGGTGCGAG c.2280
A C R D | V N E C A E G S P C S P G W C E p.760
. . . . . . g.16774
AACCTCCCGGGCTCCTTCCGCTGCACCTGTGCCCAGGGCTACGCGCCCGCGCCCGACGGC c.2340
N L P G S F R C T C A Q G Y A P A P D G p.780
. | 17 . . . . . g.19726
CGCAGTTGCTTGG | ATGTGGACGAGTGTGAGGCTGGGGACGTGTGTGACAATGGCATCTGC c.2400
R S C L D | V D E C E A G D V C D N G I C p.800
. . . . . . g.19786
AGCAACACGCCAGGATCTTTCCAGTGTCAGTGCCTCTCTGGCTACCATCTGTCCAGGGAC c.2460
S N T P G S F Q C Q C L S G Y H L S R D p.820
. | 18 . . . . . g.20048
CGGAGCCACTGCGAGG | ACATTGATGAGTGTGACTTCCCTGCAGCCTGCATTGGGGGTGAC c.2520
R S H C E D | I D E C D F P A A C I G G D p.840
. . . . . . g.20108
TGCATCAATACCAATGGCTCCTACAGATGTCTTTGCCCCCAGGGGCATCGGCTGGTGGGT c.2580
C I N T N G S Y R C L C P Q G H R L V G p.860
. | 19 . . . . . g.21544
GGCAGGAAATGCCAAG | ACATAGATGAGTGCAGCCAGGACCCGAGCCTGTGCCTTCCCCAT c.2640
G R K C Q D | I D E C S Q D P S L C L P H p.880
. . . . . . g.21604
GGGGCCTGCAAGAACCTTCAGGGCTCCTATGTGTGTGTCTGCGATGAGGGCTTCACTCCC c.2700
G A C K N L Q G S Y V C V C D E G F T P p.900
. . | 20 . . . . g.21970
ACCCAGGACCAGCACGGTTGTGAGG | AGGTGGAGCAGCCCCACCACAAGAAGGAGTGCTAC c.2760
T Q D Q H G C E E | V E Q P H H K K E C Y p.920
. . . . . . g.22030
CTGAACTTCGATGACACAGTGTTCTGCGACAGCGTATTGGCCACCAACGTGACCCAGCAG c.2820
L N F D D T V F C D S V L A T N V T Q Q p.940
. . . . . . g.22090
GAGTGCTGCTGCTCTCTGGGGGCCGGCTGGGGCGACCACTGCGAAATCTACCCCTGCCCA c.2880
E C C C S L G A G W G D H C E I Y P C P p.960
. | 21 . . . . . g.22321
GTCTACAGCTCAG | CCGAGTTCCACAGCCTCTGCCCAGACGGAAAGGGCTACACCCAGGAC c.2940
V Y S S A | E F H S L C P D G K G Y T Q D p.980
. . . | 22. . . g.22637
AACAACATCGTCAACTACGGCATCCCAGCCCACCGTG | ACATCGACGAGTGCATGTTGTTC c.3000
N N I V N Y G I P A H R D | I D E C M L F p.1000
. . . . . . g.22697
GGGTCGGAGATTTGCAAGGAGGGCAAGTGCGTGAACACGCAGCCTGGCTACGAGTGCTAC c.3060
G S E I C K E G K C V N T Q P G Y E C Y p.1020
. . . . | 23 . . g.22860
TGCAAGCAGGGCTTCTACTACGACGGGAACCTGCTGGAATGCGTGG | ACGTGGACGAGTGC c.3120
C K Q G F Y Y D G N L L E C V D | V D E C p.1040
. . . . . . g.22920
CTGGACGAGTCCAACTGCCGGAACGGAGTGTGTGAGAACACGCGCGGCGGCTACCGCTGT c.3180
L D E S N C R N G V C E N T R G G Y R C p.1060
. . . . . . g.22980
GCCTGCACGCCCCCTGCCGAGTACAGTCCCGCGCAGCGCCAGTGCCTGAGCCCGGAAGAG c.3240
A C T P P A E Y S P A Q R Q C L S P E E p.1080
| 24 . . . . . . g.23131
ATGG | ACGTGGACGAGTGCCAGGACCCGGCAGCCTGCCGCCCTGGCCGCTGCGTCAACCTG c.3300
M D | V D E C Q D P A A C R P G R C V N L p.1100
. . . . . . g.23191
CCGGGCTCCTACCGCTGCGAGTGTCGCCCGCCCTGGGTGCCCGGGCCCTCCGGCCGCGAT c.3360
P G S Y R C E C R P P W V P G P S G R D p.1120
. . | 25 . . . . g.23382
TGCCAGCTCCCCGAGAGCCCGGCCG | AGCGTGCCCCGGAGCGGCGCGACGTGTGCTGGAGC c.3420
C Q L P E S P A E | R A P E R R D V C W S p.1140
. . . . . . g.23442
CAGCGCGGAGAGGACGGCATGTGCGCTGGCCCCCTGGCCGGGCCTGCCCTCACCTTCGAC c.3480
Q R G E D G M C A G P L A G P A L T F D p.1160
. . . . . . g.23502
GACTGCTGCTGCCGCCAGGGCCGCGGCTGGGGCGCCCAATGCCGACCGTGCCCGCCGCGC c.3540
D C C C R Q G R G W G A Q C R P C P P R p.1180
| 26. . . . . . g.23653
GGCGCGG | GGTCCCATTGCCCGACATCGCAGAGCGAGAGCAATTCCTTCTGGGACACAAGC c.3600
G A G | S H C P T S Q S E S N S F W D T S p.1200
. . | 27 . . . g.23801
CCCCTGCTGTTGGGGAAGCCCCCAAGAG | ATGAGGACAGTTCAGAGGAGGATTCAGACGAG c.3660
P L L L G K P P R D | E D S S E E D S D E p.1220
. . . . . . g.23861
TGTCGCTGCGTGAGTGGCCGCTGCGTGCCGCGGCCGGGCGGCGCCGTGTGCGAGTGTCCC c.3720
C R C V S G R C V P R P G G A V C E C P p.1240
. . . . | 28 . . g.24017
GGCGGCTTCCAGCTCGACGCCTCCCGCGCCCGCTGCGTGG | ATATCGACGAGTGCCGAGAG c.3780
G G F Q L D A S R A R C V D | I D E C R E p.1260
. . . . . . g.24077
CTGAACCAGCGCGGGCTGCTGTGCAAGAGCGAGCGCTGCGTGAACACCAGCGGCTCCTTC c.3840
L N Q R G L L C K S E R C V N T S G S F p.1280
. . . . . . g.24137
CGCTGCGTCTGCAAAGCCGGCTTCGCGCGCAGCCGCCCGCACGGGGCCTGCGTTCCCCAG c.3900
R C V C K A G F A R S R P H G A C V P Q p.1300
. g.24149
CGCCGCCGCTGA c.3912
R R R X p.1303
. . . . . . g.24209
cgccgccgacgccgccctcggcccagacctcggtgatcactgagggatttccgcgagctc c.*60
. . . . . . g.24269
ggcctcacttctgccccgacttgtggctcggacccagggaccttcagggcccgcagaccc c.*120
. . . . . . g.24329
tcccggcgccttgagacccgaggcgcccctaccggcccccctccccggttagcgggcggt c.*180
. . . . . . g.24389
tgtaaggtctccggcgggcgctgcctgccttcctcccagagggtgtttcctagaaactga c.*240
. . . . . . g.24449
taaatcagatcgtgcctctttacccttggctttcgaagcaaattgatgttcacgtctgac c.*300
. . . . . . g.24509
gtgggcgcgggctgcgcagggcggcgccagaccccagccgcctcccaggggctagactga c.*360
. . . . . . g.24569
gcccggcacaaggggtgtgaaatagaatttattgtggctctgattatgtacacgtgagat c.*420
. . . . . . g.24629
ggcctggctgggccggccgggctcacatggtttgtacaataaatacatctgtggggcggg c.*480
. . . . g.24670
ctctccgcagccgggaagggccaccgccacggttcagtcca c.*521
(downstream sequence)
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