(used for variant description)
(last modified October 14, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_006329.3 in the FBLN5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008254.1, covering FBLN5 transcript NM_006329.3.
(upstream sequence)
. . . . . g.5053
cgcccctcgccttctgcccgggcgctcgcagccgagcgcggccggggaagggc c.-421
. . . . . . g.5113
tctcctcccagcgccgagcactgggccctggcagacgccccaagattgttgtgaggagtc c.-361
. . . . . . g.5173
tagccagttggtgagcgctgtaatctgaaccagctgtgtccagactgaggccccatttgc c.-301
. . . . . . g.5233
attgtttaacatacttagaaaatgaagtgttcatttttaacattcctcctccaattggtt c.-241
. . . . . . g.5293
taatgctgaattactgaagagggctaagcaaaaccaggtgcttgcgctgagggctctgca c.-181
. . . . . . g.5353
gtggctgggaggaccccggcgctctccccgtgtcctctccacgactcgctcggcccctct c.-121
. . . . . . g.5413
ggaataaaacacccgcgagccccgagggcccagaggaggccgacgtgcccgagctcctcc c.-61
. . . . . . g.5473
gggggtcccgcccgcgagctttcttctcgccttcgcatctcctcctcgcgcgtcttggac c.-1
. | 02. . . . . g.9784
ATGCCAGGAATAAAAAG | GATACTCACTGTTACCATTCTGGCTCTCTGTCTTCCAAGCCCT c.60
M P G I K R | I L T V T I L A L C L P S P p.20
. | 03 . . . . . g.12134
GGGAATGCACAG | GCACAGTGCACGAATGGCTTTGACCTGGATCGCCAGTCAGGACAGTGT c.120
G N A Q | A Q C T N G F D L D R Q S G Q C p.40
| 04 . . . . . . g.15557
TTAG | ATATTGATGAATGCCGAACCATCCCCGAGGCCTGCCGAGGAGACATGATGTGTGTT c.180
L D | I D E C R T I P E A C R G D M M C V p.60
. . . . . . g.15617
AACCAAAATGGCGGGTATTTATGCATTCCCCGGACAAACCCTGTGTATCGAGGGCCCTAC c.240
N Q N G G Y L C I P R T N P V Y R G P Y p.80
. . . . . . g.15677
TCGAACCCCTACTCGACCCCCTACTCAGGTCCGTACCCAGCAGCTGCCCCACCACTCTCA c.300
S N P Y S T P Y S G P Y P A A A P P L S p.100
. . . . . . g.15737
GCTCCAAACTATCCCACGATCTCCAGGCCTCTTATATGCCGCTTTGGATACCAGATGGAT c.360
A P N Y P T I S R P L I C R F G Y Q M D p.120
. | 05 . . . . g.57671
GAAAGCAACCAATGTGTGG | ATGTGGACGAGTGTGCAACAGATTCCCACCAGTGCAACCCC c.420
E S N Q C V D | V D E C A T D S H Q C N P p.140
. . . . . . g.57731
ACCCAGATCTGCATCAATACTGAAGGCGGGTACACCTGCTCCTGCACCGACGGATATTGG c.480
T Q I C I N T E G G Y T C S C T D G Y W p.160
. . | 06 . . . . g.61403
CTTCTGGAAGGCCAGTGCTTAG | ACATTGATGAATGTCGCTATGGTTACTGCCAGCAGCTC c.540
L L E G Q C L D | I D E C R Y G Y C Q Q L p.180
. . . . . . g.61463
TGTGCGAATGTTCCTGGATCCTATTCTTGTACATGCAACCCTGGTTTTACCCTCAATGAG c.600
C A N V P G S Y S C T C N P G F T L N E p.200
. | 07 . . . . g.65431
GATGGAAGGTCTTGCCAAG | ATGTGAACGAGTGTGCCACCGAGAACCCCTGCGTGCAAACC c.660
D G R S C Q D | V N E C A T E N P C V Q T p.220
. . . . . . g.65491
TGCGTCAACACCTACGGCTCTTTCATCTGCCGCTGTGACCCAGGATATGAACTTGAGGAA c.720
C V N T Y G S F I C R C D P G Y E L E E p.240
. | 08 . . . . g.69667
GATGGCGTTCATTGCAGTG | ATATGGACGAGTGCAGCTTCTCTGAGTTCCTCTGCCAACAT c.780
D G V H C S D | M D E C S F S E F L C Q H p.260
. . . . . . g.69727
GAGTGTGTGAACCAGCCCGGCACATACTTCTGCTCCTGCCCTCCAGGCTACATCCTGCTG c.840
E C V N Q P G T Y F C S C P P G Y I L L p.280
. . | 09 . . . . g.71322
GATGACAACCGAAGCTGCCAAG | ACATCAACGAATGTGAGCACAGGAACCACACGTGCAAC c.900
D D N R S C Q D | I N E C E H R N H T C N p.300
. . . . . . g.71382
CTGCAGCAGACGTGCTACAATTTACAAGGGGGCTTCAAATGCATTGACCCCATCCGCTGT c.960
L Q Q T C Y N L Q G G F K C I D P I R C p.320
. . | 10 . . . g.75051
GAGGAGCCTTATCTGAGGATCAGTGATAA | CCGCTGTATGTGTCCTGCTGAGAACCCTGGC c.1020
E E P Y L R I S D N | R C M C P A E N P G p.340
. . . . . . g.75111
TGCAGAGACCAGCCCTTTACCATCTTGTACCGGGACATGGACGTGGTGTCAGGACGCTCC c.1080
C R D Q P F T I L Y R D M D V V S G R S p.360
. . . . . . g.75171
GTTCCCGCTGACATCTTCCAAATGCAAGCCACGACCCGCTACCCTGGGGCCTATTACATT c.1140
V P A D I F Q M Q A T T R Y P G A Y Y I p.380
. . . . | 11 . . g.82332
TTCCAGATCAAATCTGGGAATGAGGGCAGAGAATTTTACATGCGG | CAAACGGGCCCCATC c.1200
F Q I K S G N E G R E F Y M R | Q T G P I p.400
. . . . . . g.82392
AGTGCCACCCTGGTGATGACACGCCCCATCAAAGGGCCCCGGGAAATCCAGCTGGACTTG c.1260
S A T L V M T R P I K G P R E I Q L D L p.420
. . . . . . g.82452
GAAATGATCACTGTCAACACTGTCATCAACTTCAGAGGCAGCTCCGTGATCCGACTGCGG c.1320
E M I T V N T V I N F R G S S V I R L R p.440
. . g.82479
ATATATGTGTCGCAGTACCCATTCTGA c.1347
I Y V S Q Y P F X p.448
. . . . . . g.82539
gcctcgggctggagcctccgacgctgcctctcattggcaccaagggacaggagaagagag c.*60
. . . . . . g.82599
gaaataacagagagaatgagagcgacacagacgttaggcatttcctgctgaacgtttccc c.*120
. . . . . . g.82659
cgaagagtcagccccgacttcctgactctcacctgtactattgcagacctgtcaccctgc c.*180
. . . . . . g.82719
aggacttgccacccccagttcctatgacacagttatcaaaaagtattatcattgctcccc c.*240
. . . . . . g.82779
tgatagaagattgttggtgaattttcaaggccttcagtttatttccactattttcaaaga c.*300
. . . . . . g.82839
aaatagattaggtttgcgggggtctgagtctatgttcaaagactgtgaacagcttgctgt c.*360
. . . . . . g.82899
cacttcttcacctcttccactccttctctcactgtgttactgctttgcaaagacccggga c.*420
. . . . . . g.82959
gctggcggggaaccctgggagtagctagtttgctttttgcgtacacagagaaggctatgt c.*480
. . . . . . g.83019
aaacaaaccacagcaggatcgaagggtttttagagaatgtgtttcaaaaccatgcctggt c.*540
. . . . . . g.83079
attttcaaccataaaagaagtttcagttgtccttaaatttgtataacggtttaattctgt c.*600
. . . . . . g.83139
cttgttcattttgagtatttttaaaaaatatgtcgtagaattccttcgaaaggccttcag c.*660
. . . . . . g.83199
acacatgctatgttctgtcttcccaaacccagtctcctctccattttagcccagtgtttt c.*720
. . . . . . g.83259
ctttgaggaccccttaatcttgctttctttagaatttttacccaattggattggaatgca c.*780
. . . g.83292
gaggtctccaaactgattaaatatttgaagaga c.*813
(downstream sequence)
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