(used for variant description)
(last modified December 1, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_005754.2 in the G3BP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering G3BP1 transcript NM_005754.2.
(upstream sequence)
. . . . . g.5051
gagtggcagttatatagaccggcggcggagcacgcgtgtgtgcggacgcag c.-121
. . . . . . g.5111
ttgcgtgaggggtttgtactatcctcggtgctgtggtgcagagctagttcctctccagct c.-61
. . | 02 . . . . g.19706
cagccgcgtag | gtttggacatatttgactcttttccccccaggttgaattgaccaaagca c.-1
. . . . . . g.19766
ATGGTGATGGAGAAGCCTAGTCCCCTGCTGGTCGGGCGGGAATTTGTGAGACAGTATTAC c.60
M V M E K P S P L L V G R E F V R Q Y Y p.20
. . . | 03 . . . g.23433
ACACTGCTGAACCAGGCCCCAGACATGCTGCATAG | ATTTTATGGAAAGAACTCTTCTTAT c.120
T L L N Q A P D M L H R | F Y G K N S S Y p.40
. . . . . | 04. g.23977
GTCCATGGGGGATTGGATTCAAATGGAAAGCCAGCAGATGCAGTCTACGGACAGAAA | GAA c.180
V H G G L D S N G K P A D A V Y G Q K | E p.60
. . . . . . g.24037
ATCCACAGGAAAGTGATGTCACAAAACTTCACCAACTGCCACACCAAGATTCGCCATGTT c.240
I H R K V M S Q N F T N C H T K I R H V p.80
. . . . . . g.24097
GATGCTCATGCCACGCTAAATGATGGTGTGGTAGTCCAGGTGATGGGGCTTCTCTCTAAC c.300
D A H A T L N D G V V V Q V M G L L S N p.100
. . . . . | 05 . g.27253
AACAACCAGGCTTTGAGGAGATTCATGCAAACGTTTGTCCTTGCTCCTGAG | GGGTCTGTT c.360
N N Q A L R R F M Q T F V L A P E | G S V p.120
. . . . . . g.27313
GCAAATAAATTCTATGTTCACAATGATATCTTCAGATACCAAGATGAGGTCTTTGGTGGG c.420
A N K F Y V H N D I F R Y Q D E V F G G p.140
. . | 06 . . . . g.28602
TTTGTCACTGAGCCTCAGGAGG | AGTCTGAAGAAGAAGTAGAGGAACCTGAAGAAAGACAG c.480
F V T E P Q E E | S E E E V E E P E E R Q p.160
. . . . . | 07 g.30313
CAAACACCTGAGGTGGTACCTGATGATTCTGGAACTTTCTATGATCAGGCAGTTGTCAG | T c.540
Q T P E V V P D D S G T F Y D Q A V V S | p.180
. . . . . . g.30373
AATGACATGGAAGAACATTTAGAGGAGCCTGTTGCTGAACCAGAGCCTGATCCTGAACCA c.600
N D M E E H L E E P V A E P E P D P E P p.200
. . . . . . g.30433
GAACCAGAACAAGAACCTGTATCTGAAATCCAAGAGGAAAAGCCTGAGCCAGTATTAGAA c.660
E P E Q E P V S E I Q E E K P E P V L E p.220
. . . . . . g.30493
GAAACTGCCCCTGAGGATGCTCAGAAGAGTTCTTCTCCAGCACCTGCAGACATAGCTCAG c.720
E T A P E D A Q K S S S P A P A D I A Q p.240
. . | 08 . . . . g.32336
ACAGTACAGGAAGACTTGAGG | ACATTTTCTTGGGCATCTGTGACCAGTAAGAATCTTCCA c.780
T V Q E D L R | T F S W A S V T S K N L P p.260
. . . . . . g.32396
CCCAGTGGAGCTGTTCCAGTTACTGGGATACCACCTCATGTTGTTAAAGTACCAGCTTCA c.840
P S G A V P V T G I P P H V V K V P A S p.280
| 09 . . . . . . g.33031
CAG | CCCCGTCCAGAGTCTAAGCCTGAATCTCAGATTCCACCACAAAGACCTCAGCGGGAT c.900
Q | P R P E S K P E S Q I P P Q R P Q R D p.300
. . . . . | 10 . g.33308
CAAAGAGTGCGAGAACAACGAATAAATATTCCTCCCCAAAGGGGACCCAGACCAA | TCCGT c.960
Q R V R E Q R I N I P P Q R G P R P I | R p.320
. . . . . . g.33368
GAGGCTGGTGAGCAAGGTGACATTGAACCCCGAAGAATGGTGAGACACCCTGACAGTCAC c.1020
E A G E Q G D I E P R R M V R H P D S H p.340
. . . . . . g.33428
CAACTCTTCATTGGCAACCTGCCTCATGAAGTGGACAAATCAGAGCTTAAAGATTTCTTT c.1080
Q L F I G N L P H E V D K S E L K D F F p.360
| 11 . . . . . . g.33901
CAAA | GTTATGGAAACGTGGTGGAGTTGCGCATTAACAGTGGTGGGAAATTACCCAATTTT c.1140
Q S | Y G N V V E L R I N S G G K L P N F p.380
. . . . . | 12 . g.36976
GGTTTTGTTGTGTTTGATGATTCTGAGCCTGTTCAGAAAGTCCTTAGCAACAGG | CCCATC c.1200
G F V V F D D S E P V Q K V L S N R | P I p.400
. . . . . . g.37036
ATGTTCAGAGGTGAGGTCCGTCTGAATGTCGAAGAGAAGAAGACTCGAGCTGCCAGGGAA c.1260
M F R G E V R L N V E E K K T R A A R E p.420
. . . . . . g.37096
GGCGACCGACGAGATAATCGCCTTCGGGGACCTGGAGGCCCTCGAGGTGGGCTGGGTGGT c.1320
G D R R D N R L R G P G G P R G G L G G p.440
. . . . . . g.37156
GGAATGAGAGGCCCTCCCCGTGGAGGCATGGTGCAGAAACCAGGATTTGGAGTGGGAAGG c.1380
G M R G P P R G G M V Q K P G F G V G R p.460
. . g.37177
GGGCTTGCGCCACGGCAGTGA c.1401
G L A P R Q X p.466
. . . . . . g.37237
atcttcatggatcttcatgcagccatacaaaccctggttccaacagaatggtgaattttc c.*60
. . . . . . g.37297
gacagcctttggtatcttggagtatgaccccagtctgttataaactgcttaagtttgtat c.*120
. . . . . . g.37357
aattttactttttttgtgtgttaatggtgtgtgctccctctccctctcttccctttcctg c.*180
. . . . . . g.37417
acctttagtctttcacttccaattttgtggaatgatattttaggaataacggacttttaa c.*240
. . . . . . g.37477
agaagcaaaaaaaaagactgaatttccttgcttactttgcatatacagactggatttttt c.*300
. . . . . . g.37537
ttttttttttacagccatttccccaaaggaatgtcttgcatattactgacatttggtatg c.*360
. . . . . . g.37597
tttcattcattggaatatttcttattttctacgtgtttgaaaagcctgtaagaaatacag c.*420
. . . . . . g.37657
gatttgataatattttgaaggcaggaaaaacccaaattgtttcttctttgagagtcatga c.*480
. . . . . . g.37717
ctaccttctggtgtggagaaattgccattggaaaatttgacaattttgattctcactggt c.*540
. . . . . . g.37777
atgtttaaaaactgaataaaaggaatagaatttttttttgataaaggatcacaaaacaat c.*600
. . . . . . g.37837
tctaaaacctaactgtttttaccattgaaatttaaattgtgataataggttttaaatgtc c.*660
. . . . . . g.37897
tagaatgcaactgataggcttttcttgaactgttagtttttttgaagtagttttttcatg c.*720
. . . . . . g.37957
tttaatttgtatttgtaaaaaaacaaaaagcaaaaaaattcccaaaacccagataacaac c.*780
. . . . . . g.38017
cagagcaaaactgttgtgccttctatttatctttgatttcagtcttggcaattgtttaaa c.*840
. . . . . . g.38077
aaaaaaatctagatttgttttattaggttcagagtatgtggggaattatagaatccctct c.*900
. . . . . . g.38137
ttcatcactttgtgtatgtcttttgttaacatatttgttatgccttattctaaaattgag c.*960
. . . . . . g.38197
tctcaaactggaatgcctttgaagacagatgcttctatagaggttctttgacctaaatag c.*1020
. . . . . . g.38257
ttcagcatttgtatttttattctggtatctaatcagattcctaatcatagcccgtaagaa c.*1080
. . . . . . g.38317
ggaatgttactttaatattggactttgctcatgtgctcgtgtccgcatttttttttttct c.*1140
. . . . . . g.38377
taaaatcatagccatatggtaaattttctattttgttatggttctcttttattgatgggc c.*1200
. . . . . . g.38437
atgcagtgggtgttacttggaaatggccaatttttattaaaatatttctggaagaaaatt c.*1260
g.38440
taa c.*1263
(downstream sequence)
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