(used for variant description)
(last modified October 14, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_006486.2 in the FBLN1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_023308.2, covering FBLN1 transcript NM_006486.2.
(upstream sequence)
. . g.5027
ctcctcccgggcgggataattgaacgg c.-121
. . . . . . g.5087
cgcggccctggcccagcgttggctgccgaggctcggccggagcgtggagcccgcgccgct c.-61
. . . . . . g.5147
gccccaggaccgcgcccgcgcctttgtccgccgccgcccaccgcccgtcgcccgccgccc c.-1
. . . . . . g.5207
ATGGAGCGCGCCGCGCCGTCGCGCCGGGTCCCGCTTCCGCTGCTGCTGCTCGGCGGCCTT c.60
M E R A A P S R R V P L P L L L L G G L p.20
. | 02 . . . . g.20884
GCGCTGCTGGCGGCCGGAG | TGGACGCGGATGTCCTCCTGGAGGCCTGCTGTGCGGACGGA c.120
A L L A A G V | D A D V L L E A C C A D G p.40
. . . . . . g.20944
CACCGGATGGCCACTCATCAGAAGGACTGCTCGCTGCCATATGCTACGGAATCCAAAGAA c.180
H R M A T H Q K D C S L P Y A T E S K E p.60
| 03 . . . . . . g.27759
TGCAG | GATGGTGCAGGAGCAGTGCTGCCACAGCCAGCTGGAGGAGCTGCACTGTGCCACG c.240
C R | M V Q E Q C C H S Q L E E L H C A T p.80
. . . . . . g.27819
GGCATCAGCCTGGCCAACGAGCAGGACCGCTGTGCCACGCCCCACGGTGACAACGCCAGC c.300
G I S L A N E Q D R C A T P H G D N A S p.100
. . | 04 . . . . g.30047
CTGGAGGCCACATTTGTGAAG | AGGTGCTGCCATTGCTGTCTGCTGGGGAGGGCGGCCCAG c.360
L E A T F V K | R C C H C C L L G R A A Q p.120
. . . . . . g.30107
GCCCAGGGCCAGAGCTGCGAGTACAGCCTCATGGTTGGCTACCAGTGTGGACAGGTCTTC c.420
A Q G Q S C E Y S L M V G Y Q C G Q V F p.140
. . . . . . g.30167
CAGGCATGCTGTGTCAAGAGCCAGGAGACCGGAGATTTGGATGTCGGGGGCCTCCAAGAA c.480
Q A C C V K S Q E T G D L D V G G L Q E p.160
| 05 . . . . . . g.33482
ACGG | ATAAGATCATTGAGGTTGAGGAGGAACAAGAGGACCCATATCTGAATGACCGCTGC c.540
T D | K I I E V E E E Q E D P Y L N D R C p.180
| 06 . . . . . . g.35280
CGAG | GAGGCGGGCCCTGCAAGCAGCAGTGCCGAGACACGGGTGACGAGGTGGTCTGCTCC c.600
R G | G G P C K Q Q C R D T G D E V V C S p.200
. . . . | 07 . . g.35936
TGCTTCGTGGGCTACCAGCTGCTGTCTGATGGTGTCTCCTGTGAAG | ATGTCAATGAATGC c.660
C F V G Y Q L L S D G V S C E D | V N E C p.220
. . . . . . g.35996
ATCACGGGCAGCCACAGCTGCCGGCTTGGAGAATCCTGCATCAACACAGTGGGCTCTTTC c.720
I T G S H S C R L G E S C I N T V G S F p.240
. . . . . . g.36056
CGCTGCCAGCGGGACAGCAGCTGCGGGACTGGCTATGAGCTCACAGAGGACAATAGCTGC c.780
R C Q R D S S C G T G Y E L T E D N S C p.260
| 08 . . . . . . g.37417
AAAG | ATATTGACGAGTGTGAGAGTGGTATTCATAACTGCCTCCCCGATTTTATCTGTCAG c.840
K D | I D E C E S G I H N C L P D F I C Q p.280
. . . . . . g.37477
AATACTCTGGGATCCTTCCGCTGCCGACCCAAGCTACAGTGCAAGAGTGGCTTTATACAA c.900
N T L G S F R C R P K L Q C K S G F I Q p.300
. . | 09 . . . . g.43428
GATGCTCTAGGCAACTGTATTG | ATATCAATGAGTGTTTGAGTATCAGTGCCCCGTGCCCT c.960
D A L G N C I D | I N E C L S I S A P C P p.320
. . . . . . g.43488
ATCGGGCATACATGCATCAACACAGAGGGCTCCTACACGTGCCAGAAGAACGTGCCCAAC c.1020
I G H T C I N T E G S Y T C Q K N V P N p.340
. . . . | 10 . . g.44330
TGTGGCCGTGGCTACCATCTCAACGAGGAGGGAACGCGCTGTGTTG | ATGTGGACGAGTGC c.1080
C G R G Y H L N E E G T R C V D | V D E C p.360
. . . . . . g.44390
GCGCCACCTGCTGAGCCCTGTGGGAAGGGACATCGCTGCGTGAACTCTCCCGGCAGTTTC c.1140
A P P A E P C G K G H R C V N S P G S F p.380
. . . . . | 11 . g.45567
CGCTGCGAATGCAAGACGGGTTACTATTTTGACGGCATCAGCAGGATGTGTGTCG | ATGTC c.1200
R C E C K T G Y Y F D G I S R M C V D | V p.400
. . . . . . g.45627
AACGAGTGCCAGCGCTACCCCGGGCGCCTGTGTGGCCACAAGTGCGAGAACACGCTGGGC c.1260
N E C Q R Y P G R L C G H K C E N T L G p.420
. . . . . . g.45687
TCCTACCTCTGCAGCTGTTCCGTGGGCTTCCGGCTCTCTGTGGATGGCAGGTCATGTGAA c.1320
S Y L C S C S V G F R L S V D G R S C E p.440
| 12 . . . . . . g.49305
G | ACATCAATGAGTGCAGCAGCAGCCCCTGTAGCCAGGAGTGTGCCAACGTCTACGGCTCC c.1380
D | I N E C S S S P C S Q E C A N V Y G S p.460
. . . . . . g.49365
TACCAGTGTTACTGCCGGCGAGGCTACCAGCTCAGCGATGTGGATGGAGTCACCTGTGAA c.1440
Y Q C Y C R R G Y Q L S D V D G V T C E p.480
| 13 . . . . . . g.50833
G | ACATCGACGAGTGCGCCCTGCCCACCGGGGGCCACATCTGCTCCTACCGCTGCATCAAC c.1500
D | I D E C A L P T G G H I C S Y R C I N p.500
. . . . . . g.50893
ATCCCTGGAAGCTTCCAGTGCAGCTGCCCCTCGTCTGGCTACAGGCTGGCCCCCAATGGC c.1560
I P G S F Q C S C P S S G Y R L A P N G p.520
. | 14 . . . . . g.52700
CGCAACTGCCAAG | ACATTGATGAGTGTGTGACTGGCATCCACAACTGCTCCATCAACGAG c.1620
R N C Q D | I D E C V T G I H N C S I N E p.540
. . . . . . g.52760
ACCTGCTTCAACATCCAGGGCGGCTTCCGCTGCCTGGCCTTCGAGTGCCCTGAGAACTAC c.1680
T C F N I Q G G F R C L A F E C P E N Y p.560
. | 15. . . . . g.76715
CGCCGCTCCGCAGCCAC | GCTCCAGCAGGAGAAGACAGACACGGTCCGCTGCATCAAGTCC c.1740
R R S A A T | L Q Q E K T D T V R C I K S p.580
. . . . . . g.76775
TGCCGCCCCAACGATGTCACATGCGTGTTCGACCCCGTGCACACCATCTCCCACACCGTC c.1800
C R P N D V T C V F D P V H T I S H T V p.600
. . . . | 16 . . g.79158
ATCTCGCTGCCTACCTTCCGCGAGTTCACCCGCCCTGAAG | AGATCATCTTCCTCCGGGCC c.1860
I S L P T F R E F T R P E E | I I F L R A p.620
. . . . . . g.79218
ATCACGCCACCGCATCCTGCCAGCCAGGCTAACATCATCTTCGACATCACGGAAGGGAAC c.1920
I T P P H P A S Q A N I I F D I T E G N p.640
. . . . . | 17 . g.102476
CTGCGGGACTCTTTTGACATCATCAAGCGTTACATGGACGGCATGACCGTGG | GTGTCGTG c.1980
L R D S F D I I K R Y M D G M T V G | V V p.660
. . . . . . g.102536
CGCCAGGTGCGGCCCATCGTGGGCCCATTTCATGCCGTCCTGAAGCTGGAGATGAACTAT c.2040
R Q V R P I V G P F H A V L K L E M N Y p.680
. . . . . . g.102596
GTGGTCGGGGGCGTGGTCTCCCACCGAAATGTTGTCAACGTCCACATCTTCGTCTCTGAG c.2100
V V G G V V S H R N V V N V H I F V S E p.700
. g.102608
TACTGGTTCTGA c.2112
Y W F X p.703
. . . . . . g.102668
gggctggtctgccgcacagccgcaggtgcacctccaggccaaatcattgctgccagtgac c.*60
. . . . . . g.102728
tgtggtctgtacttgtttataccctcagacttttttaatgttaggtatttgtagcattag c.*120
. . . . . . g.102788
gccaacatgtattaagctgagccagatgaataagtccatctgatgtattttcggtgttta c.*180
. . . . . . g.102848
aaaaatgagcccagttgctcaactgtttggttgaaaaccttgctcattttttaatgcgaa c.*240
. . . . . . g.102908
ggctaagtgtcaccccctttctctgcctctggctgggccttgctaagggccaaggaaaga c.*300
. . . . . . g.102968
aagacattttttagggggcagccagtccaaatgccaaaagaagaccagttcttgccctga c.*360
. . . . . . g.103028
ttgtatgaaatttgacattttggcactttttttttttttttggccaatcagattttctat c.*420
. . . . . . g.103088
gttctaaggacatggctgctgtagaatagcacagacgtggatgataaattatccccagaa c.*480
. . . . . . g.103148
gcagcatgacagaatgcctcggggagcacttggaagggaaattgcagttctgttgaaata c.*540
. . . . . . g.103208
gaggaaaatcccttggtaaagacacagcctgttaggctcgtgtgggcctccagtatgttc c.*600
. . . . . . g.103268
accaggggaatggctgggatttctcggcactctgcatcatccatcttttcttataggtgg c.*660
. . g.103296
gaaaataaacaactttgtgatcctcctg c.*688
(downstream sequence)
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