(used for variant description)
(last modified July 28, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_005141.4 in the FGB gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008833.1, covering FGB transcript NM_005141.4.
(upstream sequence)
. . . g.5039
agatatatataggattgaagatctctcagttaagtctac c.-1
. . . . . . g.5099
ATGAAAAGGATGGTTTCTTGGAGCTTCCACAAACTTAAAACCATGAAACATCTATTATTG c.60
M K R M V S W S F H K L K T M K H L L L p.20
. . . . . | 02 . g.7834
CTACTATTGTGTGTTTTTCTAGTTAAGTCCCAAGGTGTCAACGACAATGAGGAG | GGTTTC c.120
L L L C V F L V K S Q G V N D N E E | G F p.40
. . . . . . g.7894
TTCAGTGCCCGTGGTCATCGACCCCTTGACAAGAAGAGAGAAGAGGCTCCCAGCCTGAGG c.180
F S A R G H R P L D K K R E E A P S L R p.60
. . . . . . g.7954
CCTGCCCCACCGCCCATCAGTGGAGGTGGCTATCGGGCTCGTCCAGCCAAAGCAGCTGCC c.240
P A P P P I S G G G Y R A R P A K A A A p.80
. . . . . . g.8014
ACTCAAAAGAAAGTAGAAAGAAAAGCCCCTGATGCTGGAGGCTGTCTTCACGCTGACCCA c.300
T Q K K V E R K A P D A G G C L H A D P p.100
| 03 . . . . . . g.8563
GACCTG | GGGGTGTTGTGTCCTACAGGATGTCAGTTGCAAGAGGCTTTGCTACAACAGGAA c.360
D L | G V L C P T G C Q L Q E A L L Q Q E p.120
. . . . . . g.8623
AGGCCAATCAGAAATAGTGTTGATGAGTTAAATAACAATGTGGAAGCTGTTTCCCAGACC c.420
R P I R N S V D E L N N N V E A V S Q T p.140
. . . . . . g.8683
TCCTCTTCTTCCTTTCAGTACATGTATTTGCTGAAAGACCTGTGGCAAAAGAGGCAGAAG c.480
S S S S F Q Y M Y L L K D L W Q K R Q K p.160
. | 04 . . . . . g.9663
CAAGTAAAAG | ATAATGAAAATGTAGTCAATGAGTACTCCTCAGAACTGGAAAAGCACCAA c.540
Q V K D | N E N V V N E Y S S E L E K H Q p.180
. . . . . . g.9723
TTATATATAGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTGTGCTTCGTTCA c.600
L Y I D E T V N S N I P T N L R V L R S p.200
. . . . . . g.9783
ATCCTGGAAAACCTGAGAAGCAAAATACAAAAGTTAGAATCTGATGTCTCAGCTCAAATG c.660
I L E N L R S K I Q K L E S D V S A Q M p.220
. . . . . | 05 g.10403
GAATATTGTCGCACCCCATGCACTGTCAGTTGCAATATTCCTGTGGTGTCTGGCAAAG | AA c.720
E Y C R T P C T V S C N I P V V S G K E | p.240
. . . . . . g.10463
TGTGAGGAAATTATCAGGAAAGGAGGTGAAACATCTGAAATGTATCTCATTCAACCTGAC c.780
C E E I I R K G G E T S E M Y L I Q P D p.260
. . . . . | 06 . g.11210
AGTTCTGTCAAACCGTATAGAGTATACTGTGACATGAATACAGAAAATGGAG | GATGGACA c.840
S S V K P Y R V Y C D M N T E N G G | W T p.280
. . . . . . g.11270
GTGATTCAGAACCGTCAAGACGGTAGTGTTGACTTTGGCAGGAAATGGGATCCATATAAA c.900
V I Q N R Q D G S V D F G R K W D P Y K p.300
. . . . . | 07 g.11536
CAGGGATTTGGAAATGTTGCAACCAACACAGATGGGAAGAATTACTGTGGCCTACCAG | GT c.960
Q G F G N V A T N T D G K N Y C G L P G | p.320
. . . . . . g.11596
GAATATTGGCTTGGAAATGATAAAATTAGCCAGCTTACCAGGATGGGACCCACAGAACTT c.1020
E Y W L G N D K I S Q L T R M G P T E L p.340
. . . . . . g.11656
TTGATAGAAATGGAGGACTGGAAAGGAGACAAAGTAAAGGCTCACTATGGAGGATTCACT c.1080
L I E M E D W K G D K V K A H Y G G F T p.360
. . . . . . g.11716
GTACAGAATGAAGCCAACAAATACCAGATCTCAGTGAACAAATACAGAGGAACAGCCGGT c.1140
V Q N E A N K Y Q I S V N K Y R G T A G p.380
. . . . . . g.11776
AATGCCCTCATGGATGGAGCATCTCAGCTGATGGGAGAAAACAGGACCATGACCATTCAC c.1200
N A L M D G A S Q L M G E N R T M T I H p.400
. . . . | 08 . . g.12455
AACGGCATGTTCTTCAGCACGTATGACAGAGACAATGACGGCTG | GTTAACATCAGATCCC c.1260
N G M F F S T Y D R D N D G W | L T S D P p.420
. . . . . . g.12515
AGAAAACAGTGTTCTAAAGAAGACGGTGGTGGATGGTGGTATAATAGATGTCATGCAGCC c.1320
R K Q C S K E D G G G W W Y N R C H A A p.440
. . . . . . g.12575
AATCCAAACGGCAGATACTACTGGGGTGGACAGTACACCTGGGACATGGCAAAGCATGGC c.1380
N P N G R Y Y W G G Q Y T W D M A K H G p.460
. . . . . . g.12635
ACAGATGATGGTGTAGTATGGATGAATTGGAAGGGGTCATGGTACTCAATGAGGAAGATG c.1440
T D D G V V W M N W K G S W Y S M R K M p.480
. . . g.12671
AGTATGAAGATCAGGCCCTTCTTCCCACAGCAATAG c.1476
S M K I R P F F P Q Q X p.491
. . . . . . g.12731
tccccaatacgtagatttttgctcttctgtatgtgacaacatttttgtacattatgttat c.*60
. . . . . . g.12791
tggaattttctttcatacattatattcctctaaaactctcaagcagacgtgagtgtgact c.*120
. . . . . . g.12851
ttttgaaaaaagtataggataaattacattaaaatagcacatgattttcttttgttttct c.*180
. . . . . . g.12911
tcatttctcttgctcaccaagaagtaacaaaagtatagttttgacagagttggtgttcat c.*240
. . . . . . g.12971
aatttcagttctagttgattgcgagaattttcaaataaggaagaggggtcttttatcctt c.*300
. . . . . . g.13031
gtcgtaggaaaaccatgacggaaaggaaaaactgatgtttaaaagtccacttttaaaact c.*360
. . . . . . g.13091
atatttatttatgtaggatctgtcaaagaaaacttccaaaaagatttattaattaaacca c.*420
. . . . . . g.13151
gactctgttgcaataagttaatgttttcttgttttgtaatccacacattcaatgagttag c.*480
. . . . . . g.13211
gctttgcacttgtaaggaaggagaagcgttcacaacctcaaatagctaataaaccggtct c.*540
. . . . . . g.13271
tgaatatttgaagatttaaaatctgactctaggacgggcacggtggctcacgactataat c.*600
. . . . . . g.13331
cccaacactttgggaggctgaggcgggcggtcacaaggtcaggagttcaagaccagcctg c.*660
. . . . . . g.13391
accaatatggtgaaaccccatctctactaaaaatacaaaaattagccaggcgtggtggca c.*720
. . . . . . g.13451
ggtgcctgtagtcccagctacctgtgaggtggagattgcattgagccaagatctcaacac c.*780
. . . . . . g.13511
tgcactccagcctgggcaacagcgtgagactccacctcaaaaaaaaaaaaaaaagaatct c.*840
. . . . . . g.13571
gactatataccatggaaaagccaccactctgccacttaaataaacatcaggatcagagat c.*900
. . . . . . g.13631
tccaagaggacaatctgcatcaagtcttcaccaagtgttttttaagcgaaataatgaaat c.*960
. . . . . . g.13691
agggagcagaatatgcctgttgcccatagaaacgaggtctattcttgtcctcaattaggc c.*1020
. . . . . . g.13751
ttttttttcttcatagttacaccagaactaaagtaaaagtggtttttctgttctttctac c.*1080
. . . . . . g.13811
ttctccccatgaaatgggcatatcatctcaacacttcactccaagtcgccacgggcaacc c.*1140
. . . . . . g.13871
ttatgaccctaggtcctccacccctaatgtatcatcattgccacccatttttatggtact c.*1200
. . . . . . g.13931
tattgttcttaagcttatcctcttaatcttttcatgtaagcaaagctcattaatttctgt c.*1260
. . . . . . g.13991
cttggaaatgctactactctctttaattactcaccaaatccaactttaacttttgacctg c.*1320
. . . . . . g.14051
gtttctctgccacaagttctgtcccactggagcccatactcacctaccgctttgccatca c.*1380
. . . . . . g.14111
catttaacagaaaactcttatcaacttacttcctgcttaacattagctccttcctatcta c.*1440
. . . . . . g.14171
tatccaaatttcttaaattcaaattttttagctggagtaaaaatggtcccagtaccattt c.*1500
. . . . . . g.14231
cctgttcccttcactataacctacatttttgtcacattaagtttttccccattccaggac c.*1560
. . . . . . g.14291
aggtcaggccctttaaaaatttcaacagctttattgagatataattgatataatttaaaa c.*1620
. . . . . . g.14351
aatcctgcacatgtgtcatgctggagccctattgattccaacagggatggcgccttgtcc c.*1680
. . . . . . g.14411
aagaagagacccagagccagtgaatgggacatagggtttatttaggacttaaatacagat c.*1740
. . . . . . g.14471
gtggtccagtggcagtgggctggacaggaccgctactatttgtaaagagtatgtagttta c.*1800
. . . . . . g.14531
tataacatttctacttagcactctccacttagcaacctccatttaacccaaaataaaagg c.*1860
. . . . . . g.14591
ccttggttccttgcacatcctgagttccaacggacaggcagggagttcaagtgtccttca c.*1920
. . . . . . g.14651
cagataagaagtgaatctctctgggttggccattcccggattccttagcttagactctga c.*1980
. . . . . . g.14711
acacatattcttcttagaccatacagtcattctcagggtatgcttgagttaatgctgtcg c.*2040
. . . . . . g.14771
gatgcatctgtcatacaaagtgtttaacatatacgatttcatgattttggaaatatgcat c.*2100
. g.14784
acacccatgatat c.*2113
(downstream sequence)
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