(used for variant description)
(last modified October 12, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_000358.2 in the TGFBI gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012646.1, covering TGFBI transcript NM_000358.2.
(upstream sequence)
. . . . g.5041
ctccttgcacgggccggcccagcttccccgcccctggcgtc c.-121
. . . . . . g.5101
cgctccctcccgctcgcagcttacttaacctggcccgggcggcggaggcgctctcacttc c.-61
. . . . . . g.5161
cctggagccgcccgcttgcccgtcggtcgctagctcgctcggtgcgcgtcgtcccgctcc c.-1
. . . . . . g.5221
ATGGCGCTCTTCGTGCGGCTGCTGGCTCTCGCCCTGGCTCTGGCCCTGGGCCCCGCCGCG c.60
M A L F V R L L A L A L A L A L G P A A p.20
. . . . . . g.5281
ACCCTGGCGGGTCCCGCCAAGTCGCCCTACCAGCTGGTGCTGCAGCACAGCAGGCTCCGG c.120
T L A G P A K S P Y Q L V L Q H S R L R p.40
. | 02 . . . . . g.9914
GGCCGCCAGCACGG | CCCCAACGTGTGTGCTGTGCAGAAGGTTATTGGCACTAATAGGAAG c.180
G R Q H G | P N V C A V Q K V I G T N R K p.60
. . . . . | 03 . g.20170
TACTTCACCAACTGCAAGCAGTGGTACCAAAGGAAAATCTGTGGCAAATCAAC | AGTCATC c.240
Y F T N C K Q W Y Q R K I C G K S T | V I p.80
. . . . . | 04 g.22442
AGCTACGAGTGCTGTCCTGGATATGAAAAGGTCCCTGGGGAGAAGGGCTGTCCAGCAG | CC c.300
S Y E C C P G Y E K V P G E K G C P A A | p.100
. . . . . . g.22502
CTACCACTCTCAAACCTTTACGAGACCCTGGGAGTCGTTGGATCCACCACCACTCAGCTG c.360
L P L S N L Y E T L G V V G S T T T Q L p.120
. . . . . . g.22562
TACACGGACCGCACGGAGAAGCTGAGGCCTGAGATGGAGGGGCCCGGCAGCTTCACCATC c.420
Y T D R T E K L R P E M E G P G S F T I p.140
. . . | 05 . . g.22977
TTCGCCCCTAGCAACGAGGCCTGGGCCTCCTTGCCAGCT | GAAGTGCTGGACTCCCTGGTC c.480
F A P S N E A W A S L P A | E V L D S L V p.160
. . . . . . g.23037
AGCAATGTCAACATTGAGCTGCTCAATGCCCTCCGCTACCATATGGTGGGCAGGCGAGTC c.540
S N V N I E L L N A L R Y H M V G R R V p.180
. . . . . . g.23097
CTGACTGATGAGCTGAAACACGGCATGACCCTCACCTCTATGTACCAGAATTCCAACATC c.600
L T D E L K H G M T L T S M Y Q N S N I p.200
. . | 06 . . . . g.23415
CAGATCCACCACTATCCTAATGGG | ATTGTAACTGTGAACTGTGCCCGGCTGCTGAAAGCC c.660
Q I H H Y P N G | I V T V N C A R L L K A p.220
. . . . . . g.23475
GACCACCATGCAACCAACGGGGTGGTGCACCTCATCGATAAGGTCATCTCCACCATCACC c.720
D H H A T N G V V H L I D K V I S T I T p.240
. . . . . | 07 . g.25553
AACAACATCCAGCAGATCATTGAGATCGAGGACACCTTTGAGACCCTTCGG | GCTGCTGTG c.780
N N I Q Q I I E I E D T F E T L R | A A V p.260
. . . . . . g.25613
GCTGCATCAGGGCTCAACACGATGCTTGAAGGTAACGGCCAGTACACGCTTTTGGCCCCG c.840
A A S G L N T M L E G N G Q Y T L L A P p.280
. . . . . . g.25673
ACCAATGAGGCCTTCGAGAAGATCCCTAGTGAGACTTTGAACCGTATCCTGGGCGACCCA c.900
T N E A F E K I P S E T L N R I L G D P p.300
. | 08 . . . . . g.29059
GAAGCCCTGAGAG | ACCTGCTGAACAACCACATCTTGAAGTCAGCTATGTGTGCTGAAGCC c.960
E A L R D | L L N N H I L K S A M C A E A p.320
. . . . . . g.29119
ATCGTTGCGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTGGAGGTGGGCTGCAGC c.1020
I V A G L S V E T L E G T T L E V G C S p.340
. . . . . . g.29179
GGGGACATGCTCACTATCAACGGGAAGGCGATCATCTCCAATAAAGACATCCTAGCCACC c.1080
G D M L T I N G K A I I S N K D I L A T p.360
. . . . | 09 . . g.30062
AACGGGGTGATCCACTACATTGATGAGCTACTCATCCCAGACTCAG | CCAAGACACTATTT c.1140
N G V I H Y I D E L L I P D S A | K T L F p.380
. . . . . . g.30122
GAATTGGCTGCAGAGTCTGATGTGTCCACAGCCATTGACCTTTTCAGACAAGCCGGCCTC c.1200
E L A A E S D V S T A I D L F R Q A G L p.400
. . . . . . g.30182
GGCAATCATCTCTCTGGAAGTGAGCGGTTGACCCTCCTGGCTCCCCTGAATTCTGTATTC c.1260
G N H L S G S E R L T L L A P L N S V F p.420
| 10 . . . . . . g.30877
AAAG | ATGGAACCCCTCCAATTGATGCCCATACAAGGAATTTGCTTCGGAACCACATAATT c.1320
K D | G T P P I D A H T R N L L R N H I I p.440
. . . . . . g.30937
AAAGACCAGCTGGCCTCTAAGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGC c.1380
K D Q L A S K Y L Y H G Q T L E T L G G p.460
. . . | 11 . . . g.31815
AAAAAACTGAGAGTTTTTGTTTATCGTAAT | AGCCTCTGCATTGAGAACAGCTGCATCGCG c.1440
K K L R V F V Y R N | S L C I E N S C I A p.480
. . . . . . g.31875
GCCCACGACAAGAGGGGGAGGTACGGGACCCTGTTCACGATGGACCGGGTGCTGACCCCC c.1500
A H D K R G R Y G T L F T M D R V L T P p.500
. . . . | 12. . g.32783
CCAATGGGGACTGTCATGGATGTCCTGAAGGGAGACAATCGCTTTAG | CATGCTGGTAGCT c.1560
P M G T V M D V L K G D N R F S | M L V A p.520
. . . . . . g.32843
GCCATCCAGTCTGCAGGACTGACGGAGACCCTCAACCGGGAAGGAGTCTACACAGTCTTT c.1620
A I Q S A G L T E T L N R E G V Y T V F p.540
. . . . . | 13 g.35197
GCTCCCACAAATGAAGCCTTCCGAGCCCTGCCACCAAGAGAACGGAGCAGACTCTTGG | GA c.1680
A P T N E A F R A L P P R E R S R L L G | p.560
. . . . . . g.35257
GATGCCAAGGAACTTGCCAACATCCTGAAATACCACATTGGTGATGAAATCCTGGTTAGC c.1740
D A K E L A N I L K Y H I G D E I L V S p.580
. . . . . . g.35317
GGAGGCATCGGGGCCCTGGTGCGGCTAAAGTCTCTCCAAGGTGACAAGCTGGAAGTCAGC c.1800
G G I G A L V R L K S L Q G D K L E V S p.600
| 14 . . . . . . g.36996
TTG | AAAAACAATGTGGTGAGTGTCAACAAGGAGCCTGTTGCCGAGCCTGACATCATGGCC c.1860
L | K N N V V S V N K E P V A E P D I M A p.620
. . . . | 15 . . g.37619
ACAAATGGCGTGGTCCATGTCATCACCAATGTTCTGCAGCCTCCAG | CCAACAGACCTCAG c.1920
T N G V V H V I T N V L Q P P A | N R P Q p.640
. . . . . . g.37679
GAAAGAGGGGATGAACTTGCAGACTCTGCGCTTGAGATCTTCAAACAAGCATCAGCGTTT c.1980
E R G D E L A D S A L E I F K Q A S A F p.660
| 16 . . . | 17 . . . g.39320
TCCAGG | GCTTCCCAGAGGTCTGTGCGACTAG | CCCCTGTCTATCAAAAGTTATTAGAGAGG c.2040
S R | A S Q R S V R L A | P V Y Q K L L E R p.680
. g.39332
ATGAAGCATTAG c.2052
M K H X p.683
. . . . . . g.39392
cttgaagcactacaggaggaatgcaccacggcagctctccgccaatttctctcagatttc c.*60
. . . . . . g.39452
cacagagactgtttgaatgttttcaaaaccaagtatcacactttaatgtacatgggccgc c.*120
. . . . . . g.39512
accataatgagatgtgagccttgtgcatgtgggggaggagggagagagatgtacttttta c.*180
. . . . . . g.39572
aatcatgttccccctaaacatggctgttaacccactgcatgcagaaacttggatgtcact c.*240
. . . . . . g.39632
gcctgacattcacttccagagaggacctatcccaaatgtggaattgactgcctatgccaa c.*300
. . . . . . g.39692
gtccctggaaaaggagcttcagtattgtggggctcataaaacatgaatcaagcaatccag c.*360
. . . . . . g.39752
cctcatgggaagtcctggcacagtttttgtaaagcccttgcacagctggagaaatggcat c.*420
. . . . . . g.39812
cattataagctatgagttgaaatgttctgtcaaatgtgtctcacatctacacgtggcttg c.*480
. . . . . . g.39872
gaggcttttatggggccctgtccaggtagaaaagaaatggtatgtagagcttagatttcc c.*540
. . . . . g.39924
ctattgtgacagagccatggtgtgtttgtaataataaaaccaaagaaacata c.*592
(downstream sequence)
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