(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_003573.2 in the LTBP4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_021201.1, covering LTBP4 transcript NM_003573.2.
(upstream sequence)
. | 02 . . . . . g.6075
ATGGGAGACGTAAAAG | CGTTGCTGTTTGTCGCTGCTGCCCGGGCCAGACGTCTAGGAGGA c.60
M G D V K A | L L F V A A A R A R R L G G p.20
. | 03 . . . . . g.6281
GCCGCTGCATCCGAG | TCCCTGGCTGTCTCCGAAGCCTTCTGCAGGGTCCGAAGCTGCCAG c.120
A A A S E | S L A V S E A F C R V R S C Q p.40
. . . . . . g.6341
CCCAAAAAGTGTGCAGGCCCCCAGCGGTGCCTGAACCCAGTGCCTGCAGTGCCCAGTCCC c.180
P K K C A G P Q R C L N P V P A V P S P p.60
. . . . . | 04 . g.6912
AGCCCCAGCGTGAGGAAGAGACAGGTGTCCCTCAACTGGCAGCCACTGAC | GCTCCAGGAG c.240
S P S V R K R Q V S L N W Q P L T | L Q E p.80
. . . . . . g.6972
GCCAGAGCTCTACTGAAGCGGCGGCGGCCCCGGGGGCCAGGGGGCCGGGGACTACTGAGA c.300
A R A L L K R R R P R G P G G R G L L R p.100
. . . . | 05 . . g.11889
AGGAGGCCCCCACAGCGTGCCCCCGCTGGCAAGGCCCCGG | TCCTGTGTCCCTTGATCTGT c.360
R R P P Q R A P A G K A P V | L C P L I C p.120
. . . . . . g.11949
CACAATGGCGGTGTGTGCGTGAAGCCTGACCGCTGCCTCTGTCCCCCGGACTTCGCTGGC c.420
H N G G V C V K P D R C L C P P D F A G p.140
. . . . . . g.12009
AAGTTCTGCCAGTTGCACTCCTCGGGCGCCCGGCCCCCGGCCCCGGCTGTACCAGGCCTC c.480
K F C Q L H S S G A R P P A P A V P G L p.160
. . . . . | 06 . g.12247
ACCCGCTCCGTGTACACTATGCCACTGGCCAACCACCGCGACGACGAGCACG | GCGTGGCA c.540
T R S V Y T M P L A N H R D D E H G | V A p.180
. . . . . . g.12307
TCTATGGTGAGCGTCCACGTGGAGCACCCGCAGGAGGCGTCGGTGGTGGTGCACCAGGTG c.600
S M V S V H V E H P Q E A S V V V H Q V p.200
. . . . . . g.12367
GAGCGTGTGTCTGGCCCTTGGGAGGAGGCGGACGCTGAGGCGGTGGCGCGGGCGGAAGCG c.660
E R V S G P W E E A D A E A V A R A E A p.220
. . . . . . g.12427
GCGGCGCGGGCGGAGGCGGCAGCGCCCTACACGGTGTTGGCACAGAGCGCGCCGCGGGAG c.720
A A R A E A A A P Y T V L A Q S A P R E p.240
. . . . . . g.12487
GACGGCTACTCAGATGCCTCGGGCTTCGGTTACTGCTTTCGGGAGCTGCGCGGAGGCGAA c.780
D G Y S D A S G F G Y C F R E L R G G E p.260
| 07 . . . . . . g.12623
| TGCGCGTCCCCGCTGCCCGGGCTCCGGACGCAGGAGGTCTGCTGCCGAGGGGCCGGCTTG c.840
| C A S P L P G L R T Q E V C C R G A G L p.280
. . . . | 08 . . g.13084
GCCTGGGGCGTTCACGACTGTCAGCTGTGCTCCGAGCGCCTGG | GGAACTCCGAAAGAGTG c.900
A W G V H D C Q L C S E R L G | N S E R V p.300
. . . . . | 09 g.13240
AGCGCCCCAGATGGACCTTGTCCAACCGGCTTTGAAAGAGTTAATGGGTCCTGCGAAG | AT c.960
S A P D G P C P T G F E R V N G S C E D | p.320
. . . . . . g.13300
GTGGATGAGTGCGCGACTGGCGGGCGCTGCCAGCACGGCGAGTGTGCAAACACGCGCGGC c.1020
V D E C A T G G R C Q H G E C A N T R G p.340
. . . . . . g.13360
GGGTACACGTGTGTGTGCCCCGACGGCTTTCTGCTCGACTCGTCCCGCAGCAGCTGCATC c.1080
G Y T C V C P D G F L L D S S R S S C I p.360
| 10 . . . . . . g.14258
T | CCCAACACGTGATCTCAGAGGCCAAAGGGCCCTGCTTCCGCGTGCTCCGCGACGGCGGC c.1140
S | Q H V I S E A K G P C F R V L R D G G p.380
. . . . . . g.14318
TGTTCGCTGCCCATTCTGCGGAACATCACTAAACAGATCTGCTGCTGCAGCCGCGTAGGC c.1200
C S L P I L R N I T K Q I C C C S R V G p.400
. . . . | 11 . . g.15068
AAGGCCTGGGGCCGGGGCTGCCAGCTCTGCCCACCCTTCGGCTCAG | AGGGTTTCCGGGAG c.1260
K A W G R G C Q L C P P F G S E | G F R E p.420
. . . . . . g.15128
ATCTGCCCGGCTGGTCCTGGTTACCACTACTCGGCCTCCGACCTCCGCTACAACACCAGA c.1320
I C P A G P G Y H Y S A S D L R Y N T R p.440
. . . . . . g.15188
CCCCTGGGCCAGGAGCCACCCCGAGTGTCACTCAGCCAGCCTCGTACCCTGCCAGCCACC c.1380
P L G Q E P P R V S L S Q P R T L P A T p.460
. | 12 . . . . . g.15362
TCTCGGCCATCTGCAG | GCTTTCTGCCCACCCATCGCCTGGAGCCCCGGCCTGAACCCCGG c.1440
S R P S A G | F L P T H R L E P R P E P R p.480
. . . . . . g.15422
CCCGATCCCCGGCCCGGCCCTGAGCTTCCCTTGCCCAGCATCCCTGCCTGGACTGGTCCT c.1500
P D P R P G P E L P L P S I P A W T G P p.500
. | 13 . . . . . g.16408
GAGATTCCTGAATCAG | GTCCCTCCTCCGGCATGTGTCAGCGCAACCCCCAGGTCTGCGGC c.1560
E I P E S G | P S S G M C Q R N P Q V C G p.520
. . . . . . g.16468
CCAGGACGCTGCATTTCCCGGCCCAGCGGCTACACCTGCGCTTGCGACTCTGGCTTCCGG c.1620
P G R C I S R P S G Y T C A C D S G F R p.540
. . | 14 . . . g.16612
CTCAGCCCCCAGGGCACCCGATGCATTG | ATGTGGACGAATGTCGCCGCGTGCCCCCGCCC c.1680
L S P Q G T R C I D | V D E C R R V P P P p.560
. . . . . . g.16672
TGTGCTCCCGGGCGCTGCGAGAACTCACCAGGCAGCTTCCGCTGCGTGTGCGGCCCGGGC c.1740
C A P G R C E N S P G S F R C V C G P G p.580
. . . | 15 . . . g.17392
TTCCGAGCCGGCCCACGGGCTGCGGAATGCCTGG | ATGTGGACGAGTGCCACCGCGTGCCG c.1800
F R A G P R A A E C L D | V D E C H R V P p.600
. . . . . . g.17452
CCGCCGTGTGACCTCGGGCGCTGCGAGAACACGCCAGGCAGCTTCCTGTGCGTGTGCCCC c.1860
P P C D L G R C E N T P G S F L C V C P p.620
. . . . | 16 . . g.18006
GCCGGGTACCAGGCTGCACCGCACGGAGCCAGCTGCCAGG | ATGTGGATGAATGCACCCAG c.1920
A G Y Q A A P H G A S C Q D | V D E C T Q p.640
. . . . . . g.18066
AGCCCAGGCCTGTGTGGCCGAGGGGCCTGCAAGAACCTGCCTGGCTCTTTCCGCTGTGTT c.1980
S P G L C G R G A C K N L P G S F R C V p.660
. . . . . . g.18126
TGCCCGGCTGGCTTCCGGGGCTCGGCGTGTGAAGAGGATGTGGATGAGTGTGCCCAGGAG c.2040
C P A G F R G S A C E E D V D E C A Q E p.680
. . . . . . g.18186
CCGCCGCCCTGTGGGCCCGGCCGCTGTGACAACACGGCAGGCTCCTTTCACTGTGCCTGC c.2100
P P P C G P G R C D N T A G S F H C A C p.700
. . . . | 17 . . g.18710
CCTGCTGGCTTCCGCTCCCGAGGGCCCGGGGCCCCCTGCCAAG | ATGTGGATGAGTGTGCC c.2160
P A G F R S R G P G A P C Q D | V D E C A p.720
. . . . . . g.18770
CGAAGCCCCCCACCCTGCACCTACGGCCGGTGTGAGAACACAGAAGGCAGCTTCCAGTGT c.2220
R S P P P C T Y G R C E N T E G S F Q C p.740
. . . . | 18 . g.18918
GTCTGCCCCATGGGCTTCCAACCCAACACTGCTGGCTCCGAGTGCGAGG | ATGTGGATGAG c.2280
V C P M G F Q P N T A G S E C E D | V D E p.760
. . . . . . g.18978
TGTGAGAACCACCTCGCATGCCCTGGGCAGGAGTGTGTGAACTCGCCCGGCTCCTTCCAG c.2340
C E N H L A C P G Q E C V N S P G S F Q p.780
. . . . | 19 . g.19910
TGCAGGACCTGTCCTTCTGGCCACCACCTGCACCGTGGCAGATGCACTG | ATGTGGACGAA c.2400
C R T C P S G H H L H R G R C T D | V D E p.800
. . . . . . g.19970
TGCAGTTCGGGTGCCCCTCCCTGTGGTCCCCACGGCCACTGCACTAACACCGAAGGCTCC c.2460
C S S G A P P C G P H G H C T N T E G S p.820
. . . . . . g.20030
TTCCGCTGCAGCTGCGCGCCAGGCTACCGGGCGCCGTCGGGTCGGCCCGGGCCCTGCGCA c.2520
F R C S C A P G Y R A P S G R P G P C A p.840
| 20 . . . . . . g.20297
G | ACGTGAACGAGTGCCTGGAGGGCGATTTCTGCTTCCCTCACGGCGAGTGCCTCAACACT c.2580
D | V N E C L E G D F C F P H G E C L N T p.860
. . . . . . g.20357
GACGGCTCCTTTGCCTGTACTTGTGCCCCTGGCTACCGACCCGGACCCCGCGGAGCCTCT c.2640
D G S F A C T C A P G Y R P G P R G A S p.880
| 21. . . . . . g.20803
TGCCTCG | ACGTTGACGAGTGCAGCGAGGAGGACCTTTGCCAGAGCGGCATCTGTACCAAC c.2700
C L D | V D E C S E E D L C Q S G I C T N p.900
. . . . . . g.20863
ACCGACGGCTCCTTCGAGTGCATCTGTCCTCCGGGACACCGCGCTGGCCCGGACCTCGCC c.2760
T D G S F E C I C P P G H R A G P D L A p.920
. | 22 . . . . . g.21199
TCCTGCCTCG | ACGTGGACGAATGTCGCGAGCGAGGCCCAGCCCTGTGCGGGTCGCAGCGC c.2820
S C L D | V D E C R E R G P A L C G S Q R p.940
. . . . . . g.21259
TGTGAGAACTCTCCCGGCTCCTACCGCTGTGTCCGGGACTGCGATCCTGGGTACCACGCG c.2880
C E N S P G S Y R C V R D C D P G Y H A p.960
. . | 23 . . . . g.23761
GGCCCCGAGGGCACCTGTGACG | ATGTGGATGAGTGCCAAGAATATGGTCCCGAGATTTGT c.2940
G P E G T C D D | V D E C Q E Y G P E I C p.980
. . . . . . g.23821
GGAGCCCAGCGTTGTGAGAACACCCCTGGCTCCTACCGCTGCACACCAGCCTGTGACCCT c.3000
G A Q R C E N T P G S Y R C T P A C D P p.1000
. . . | 24 . . . g.23960
GGCTATCAGCCCACGCCAGGGGGCGGATGCCAGG | ATGTGGACGAATGCCGGAACCGGTCC c.3060
G Y Q P T P G G G C Q D | V D E C R N R S p.1020
. . . . . . g.24020
TTCTGCGGTGCCCACGCCGTGTGCCAGAACCTGCCCGGCTCCTTCCAGTGCCTCTGTGAC c.3120
F C G A H A V C Q N L P G S F Q C L C D p.1040
. . . . | 25 . . g.26201
CAGGGTTACGAGGGGGCACGGGATGGGCGTCACTGCGTGG | ATGTGAACGAGTGTGAAACA c.3180
Q G Y E G A R D G R H C V D | V N E C E T p.1060
. . . . . . g.26261
CTACAGGGTGTATGTGGAGCTGCCCTGTGTGAAAATGTCGAAGGCTCCTTCCTCTGTGTC c.3240
L Q G V C G A A L C E N V E G S F L C V p.1080
. . . . . . g.26321
TGCCCCAACAGCCCGGAAGAGTTTGACCCCATGACTGGACGCTGTGTTCCCCCACGAACT c.3300
C P N S P E E F D P M T G R C V P P R T p.1100
| 26. . . . . . g.29288
TCTGCTG | GCACGTTCCCAGGCTCGCAGCCCCAGGCACCTGCTAGCCCCGTTCTGCCCGCC c.3360
S A G | T F P G S Q P Q A P A S P V L P A p.1120
. . . . . . g.29348
AGGCCACCTCCGCCACCCCTGCCCCGCCGACCCAGCACACCTAGGCAGGGCCCTGTGGGG c.3420
R P P P P P L P R R P S T P R Q G P V G p.1140
. . . . . . g.29408
AGTGGGCGCCGGGAGTGCTACTTTGACACAGCGGCCCCGGATGCATGTGACAACATCCTG c.3480
S G R R E C Y F D T A A P D A C D N I L p.1160
. . . . . . g.29468
GCTCGGAATGTGACATGGCAGGAGTGCTGCTGTACTGTGGGTGAGGGCTGGGGCAGCGGC c.3540
A R N V T W Q E C C C T V G E G W G S G p.1180
. . . | 27 . . . g.29810
TGCCGCATCCAGCAGTGCCCGGGCACCGAGACAG | CTGAGTACCAGTCATTGTGCCCTCAC c.3600
C R I Q Q C P G T E T A | E Y Q S L C P H p.1200
. . . . | 28 . . g.30452
GGCCGGGGCTACCTGGCGCCCAGTGGAGACCTGAGCCTCCGGAGAG | ACGTGGACGAATGT c.3660
G R G Y L A P S G D L S L R R D | V D E C p.1220
. . . . . . g.30512
CAGCTCTTCCGAGACCAGGTGTGCAAGAGTGGCGTGTGTGTGAACACGGCCCCGGGCTAC c.3720
Q L F R D Q V C K S G V C V N T A P G Y p.1240
. . . . . | 29 . g.30775
TCATGCTATTGCAGCAACGGCTACTACTACCACACACAGCGGCTGGAGTGCATCG | ACAAT c.3780
S C Y C S N G Y Y Y H T Q R L E C I D | N p.1260
. . . . . . g.30835
GACGAGTGCGCCGATGAGGAACCGGCCTGTGAGGGCGGCCGCTGTGTCAACACTGTGGGC c.3840
D E C A D E E P A C E G G R C V N T V G p.1280
. . . . . . g.30895
TCTTATCACTGTACCTGCGAGCCCCCACTGGTGCTGGATGGCTCGCAGCGCCGCTGCGTC c.3900
S Y H C T C E P P L V L D G S Q R R C V p.1300
. . | 30 . . . . g.32729
TCCAACGAGAGCCAGAGCCTCG | ATGACAATCTGGGAGTGTGCTGGCAGGAAGTGGGGGCT c.3960
S N E S Q S L D | D N L G V C W Q E V G A p.1320
. . . . . . g.32789
GACCTCGTGTGCAGCCACCCTCGGCTGGACCGTCAGGCCACCTACACAGAGTGCTGCTGC c.4020
D L V C S H P R L D R Q A T Y T E C C C p.1340
. . . . . | 31 . g.33814
CTGTATGGAGAGGCCTGGGGCATGGACTGCGCCCTCTGCCCTGCGCAGGACTCAG | ATGAC c.4080
L Y G E A W G M D C A L C P A Q D S D | D p.1360
. . . . . . g.33874
TTCGAGGCCCTGTGCAATGTGCTACGCCCCCCCGCATATAGCCCCCCGCGACCAGGTGGC c.4140
F E A L C N V L R P P A Y S P P R P G G p.1380
. . . . . . g.33934
TTTGGACTCCCCTACGAGTACGGCCCAGACTTAGGTCCACCTTACCAGGGCCTCCCATAT c.4200
F G L P Y E Y G P D L G P P Y Q G L P Y p.1400
. . . . . . g.33994
GGGCCTGAGTTGTACCCACCACCTGCGCTACCCTACGACCCCTACCCACCGCCACCTGGG c.4260
G P E L Y P P P A L P Y D P Y P P P P G p.1420
. . . . . . g.34054
CCCTTCGCCCGCCGGGAGGCTCCTTATGGGGCACCCCGCTTCGACATGCCAGACTTTGAG c.4320
P F A R R E A P Y G A P R F D M P D F E p.1440
. . . . . . g.34114
GACGATGGTGGCCCCTATGGCGAATCTGAGGCTCCTGCGCCACCTGGCCCGGGCACCCGC c.4380
D D G G P Y G E S E A P A P P G P G T R p.1460
. . . . . . g.34174
TGGCCCTATCGGTCCCGGGACACCCGCCGCTCCTTCCCAGAGCCCGAGGAGCCTCCTGAA c.4440
W P Y R S R D T R R S F P E P E E P P E p.1480
. | 32 . . . . . g.34583
GGTGGAAGCTATGCTG | GTTCCCTGGCTGAGCCCTACGAGGAGCTGGAGGCGGAGGAGTGC c.4500
G G S Y A G | S L A E P Y E E L E A E E C p.1500
. . . . . . g.34643
GGGATCCTGGACGGCTGCACCAACGGCCGCTGCGTGCGCGTCCCCGAAGGCTTCACCTGC c.4560
G I L D G C T N G R C V R V P E G F T C p.1520
. . . . | 33 . g.36241
CGTTGCTTCGACGGCTACCGCCTGGACATGACCCGCATGGCCTGCGTTG | ACATCAACGAG c.4620
R C F D G Y R L D M T R M A C V D | I N E p.1540
. . . . . . g.36301
TGTGATGAGGCCGAGGCTGCCTCCCCGCTGTGCGTCAACGCGCGTTGCCTCAACACGGAT c.4680
C D E A E A A S P L C V N A R C L N T D p.1560
. . . . . . g.36361
GGCTCCTTCCGCTGCATCTGCCGCCCGGGATTCGCACCCACGCACCAGCCGCACCACTGT c.4740
G S F R C I C R P G F A P T H Q P H H C p.1580
. . g.36385
GCGCCCGCACGGCCCCGGGCCTGA c.4764
A P A R P R A X p.1587
. . . . . . g.36445
gccctggcacccgctggccgcccacccgcgcccgccactcggggcccctgccgcgcatcc c.*60
. . . . . . g.36505
tgcagcccgcttatgcgtatgtgcacggggccgcccgcctggacctggagaagggaccta c.*120
. . . . . . g.36565
cggacgcctggaagctgcgacgccctgcactgctcccgcctccaccagcgcctcccactg c.*180
. . . . . . g.36625
atgtcgtggtcccgggcctggcccaggggcccctttacatgccctctcccttttataaaa c.*240
. . . g.36655
ttttccattaaaaaccacctattttctatc c.*270
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 17
©2004-2016 Leiden University Medical Center