(used for variant description)
(last modified December 2, 2016)
This file was created to facilitate the description of sequence variants on transcript NM_000814.5 in the GABRB3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012836.1, covering GABRB3 transcript NM_000814.5.
(upstream sequence)
. . . . . g.5766
gctccgggccagcgcggcggcggcggcggcggcggcagcagcaggagcagcccc c.-61
. . . . . . g.5826
ggctgcgggtcgcgacggcggcggggcgccccctcccccgtgccggggcgcggcggaggg c.-1
. . . . . . g.5886
ATGTGGGGCCTTGCGGGAGGAAGGCTTTTCGGCATCTTCTCGGCCCCGGTGCTGGTGGCT c.60
M W G L A G G R L F G I F S A P V L V A p.20
. . | 02 . . . . g.6056
GTGGTGTGCTGCGCCCAGAG | TGTGAACGATCCCGGGAACATGTCCTTTGTGAAGGAGACG c.120
V V C C A Q S | V N D P G N M S F V K E T p.40
. . . . . | 03 . g.6327
GTGGACAAGCTGTTGAAAGGCTACGACATTCGCCTAAGACCCGACTTCGGGG | GTCCCCCG c.180
V D K L L K G Y D I R L R P D F G G | P P p.60
. . . . . . g.6387
GTCTGCGTGGGGATGAACATCGACATCGCCAGCATCGACATGGTTTCCGAAGTCAACATG c.240
V C V G M N I D I A S I D M V S E V N M p.80
| 04 . . . . . . g.157314
| GATTATACCTTAACCATGTATTTTCAACAATATTGGAGAGATAAAAGGCTCGCCTATTCT c.300
| D Y T L T M Y F Q Q Y W R D K R L A Y S p.100
. . . . . . g.157374
GGGATCCCTCTCAACCTCACGCTTGACAATCGAGTGGCTGACCAGCTATGGGTGCCCGAC c.360
G I P L N L T L D N R V A D Q L W V P D p.120
. . . . . . g.157434
ACATATTTCTTAAATGACAAAAAGTCATTTGTGCATGGAGTGACAGTGAAAAACCGCATG c.420
T Y F L N D K K S F V H G V T V K N R M p.140
. . . . | 05 . . g.195393
ATCCGTCTTCACCCTGATGGGACAGTGCTGTATGGGCTCAG | AATCACCACGACAGCAGCA c.480
I R L H P D G T V L Y G L R | I T T T A A p.160
. . . . . . g.195453
TGCATGATGGACCTCAGGAGATACCCCCTGGACGAGCAGAACTGCACTCTGGAAATTGAA c.540
C M M D L R R Y P L D E Q N C T L E I E p.180
| 06 . . . . . . g.198388
AGCT | ATGGCTACACCACGGATGACATTGAGTTTTACTGGCGAGGCGGGGACAAGGCTGTT c.600
S Y | G Y T T D D I E F Y W R G G D K A V p.200
. . . . . . g.198448
ACCGGAGTGGAAAGGATTGAGCTCCCGCAGTTCTCCATCGTGGAGCACCGTCTGGTCTCG c.660
T G V E R I E L P Q F S I V E H R L V S p.220
. . | 07 . . . . g.211093
AGGAATGTTGTCTTCGCCACAG | GTGCCTATCCTCGACTGTCACTGAGCTTTCGGTTGAAG c.720
R N V V F A T G | A Y P R L S L S F R L K p.240
. . . . . . g.211153
AGGAACATTGGATACTTCATTCTTCAGACTTATATGCCCTCTATACTGATAACGATTCTG c.780
R N I G Y F I L Q T Y M P S I L I T I L p.260
. . . . . | 08 . g.217617
TCGTGGGTGTCCTTCTGGATCAATTATGATGCATCTGCTGCTAGAGTTGCCCTCG | GGATC c.840
S W V S F W I N Y D A S A A R V A L G | I p.280
. . . . . . g.217677
ACAACTGTGCTGACAATGACAACCATCAACACCCACCTTCGGGAGACCTTGCCCAAAATC c.900
T T V L T M T T I N T H L R E T L P K I p.300
. . . . . . g.217737
CCCTATGTCAAAGCCATTGACATGTACCTTATGGGCTGCTTCGTCTTTGTGTTCCTGGCC c.960
P Y V K A I D M Y L M G C F V F V F L A p.320
. . . . . . g.217797
CTTCTGGAGTATGCCTTTGTCAACTACATTTTCTTTGGAAGAGGCCCTCAAAGGCAGAAG c.1020
L L E Y A F V N Y I F F G R G P Q R Q K p.340
. . . . . . g.217857
AAGCTTGCAGAAAAGACAGCCAAGGCAAAGAATGACCGTTCAAAGAGCGAAAGCAACCGG c.1080
K L A E K T A K A K N D R S K S E S N R p.360
| 09 . . . . . . g.230714
| GTGGATGCTCATGGAAATATTCTGTTGACATCGCTGGAAGTTCACAATGAAATGAATGAG c.1140
| V D A H G N I L L T S L E V H N E M N E p.380
. . . . . . g.230774
GTCTCAGGCGGCATTGGCGATACCAGGAATTCAGCAATATCCTTTGACAACTCAGGAATC c.1200
V S G G I G D T R N S A I S F D N S G I p.400
. . . . . . g.230834
CAGTACAGGAAACAGAGCATGCCTCGAGAAGGGCATGGGCGATTCCTGGGGGACAGAAGC c.1260
Q Y R K Q S M P R E G H G R F L G D R S p.420
. . . . . . g.230894
CTCCCGCACAAGAAGACCCATCTACGGAGGAGGTCTTCACAGCTCAAAATTAAAATACCT c.1320
L P H K K T H L R R R S S Q L K I K I P p.440
. . . . . . g.230954
GATCTAACCGATGTGAATGCCATAGACAGATGGTCCAGGATCGTGTTTCCATTCACTTTT c.1380
D L T D V N A I D R W S R I V F P F T F p.460
. . . . g.230996
TCTCTTTTCAACTTAGTTTACTGGCTGTACTATGTTAACTGA c.1422
S L F N L V Y W L Y Y V N X p.473
. . . . . . g.231056
gtgactgtacttgatttttcaaagacttcatttaacactgagtgaaatattactctgcct c.*60
. . . . . . g.231116
gtcaagtttttatacctgtacacacacagacacacaagcagacacacacatatatacata c.*120
. . . . . . g.231176
cgcaattgtatatatatgtgaactttctcagcatatatataaaatacacgtgtatatgag c.*180
. . . . . . g.231236
gatgtatgtgtatatgtttatacacacaggagtcagtgcccatgtgtatggaagacaaat c.*240
. . . . . . g.231296
acacatacatatatacattttgcagctatggacaatttaccacaggatgcatattaaaga c.*300
. . . . . . g.231356
aagtcatagtttttttcttttttaattgaaagggacaagtatcatctaaatattatgcct c.*360
. . . . . . g.231416
tgagaatgagggcgtgaaacacaatatcatccccaaatgtgtcttgtattatcataagtt c.*420
. . . . . . g.231476
agatgttttagtttaaaaatcagaaagacattcttagttaatctttgaaaactcatacag c.*480
. . . . . . g.231536
tggtattgctagtttaaaatgagtcacttacttcatatcctctcgttcagtttagtaagc c.*540
. . . . . . g.231596
aaaggcttcttggcttctctggtgatggggtttgttttcatcgggcatacgttttctgca c.*600
. . . . . . g.231656
atggtttagtggctggggtgagccactggcagtgtgcttacctgttgtctgaaacataga c.*660
. . . . . . g.231716
tagatcccacgttgatgtctgaacgaccgtcttttgaaaactcatcgggagtgaatggca c.*720
. . . . . . g.231776
tctcgttgtaagtactctaatatacagtgtgtagtttgtttctgttgttcacttggagtg c.*780
. . . . . . g.231836
gatccagcttcactgtcatgtgcgaacacagtgacacgtttggccagtgacatttcaatc c.*840
. . . . . . g.231896
actgaaaatgtgctctacatctcgtatggatttctaggcctgatatccaacagaaagcat c.*900
. . . . . . g.231956
agacgtctcaggttattcgttactctaaggtaaaaccatctaggatgattttcccccttg c.*960
. . . . . . g.232016
cagttatgttatcattcttataacattgtatgttaatagaaaatatatttgcataatatg c.*1020
. . . . . . g.232076
catatatatgtatatttaccaagattttgtttcttacgcttgctatcatggcagcatgcg c.*1080
. . . . . . g.232136
atgtcatattttcctttatgtgatgtaactactttctgttatctagaaattaagattgaa c.*1140
. . . . . . g.232196
gctaaaacacttctactgttcaatttcagaaactaagaatcatcctcatgcctttatttc c.*1200
. . . . . . g.232256
tgtatctgacatatttcataagcacatccaactactcctagactgactaggattctgcag c.*1260
. . . . . . g.232316
gaacatgacccgtacacaccacgcgtcacccaacgacccatgaccgttctctgaggcaaa c.*1320
. . . . . . g.232376
ggagggcaacctgacagcaaacacagtcactgttggttccttctgatccacagcctcatc c.*1380
. . . . . . g.232436
agtatttggactttttaaagctcgtagaaacaagacaaggtgcaccggtttcatagacgc c.*1440
. . . . . . g.232496
aaccttaacttactatttagatgagatctttctaaagaaaaaaaaaagagatgatatatt c.*1500
. . . . . . g.232556
ttttgtaaacaatatttctatcacaggcatccataaactgaaatgactacagttgtgcaa c.*1560
. . . . . . g.232616
acaggtgtcacagtgaagttgagcatttggagaaaaaaataaaaagcaaaatttgcagga c.*1620
. . . . . . g.232676
agaactgctaaattaatactttatcccaaaatgccacgtatgcctcaccctctctgttct c.*1680
. . . . . . g.232736
atccaaaaccaaggaccagagtgctccaatggtaggccccagttgtctcgatgtaggtag c.*1740
. . . . . . g.232796
aggcaccaccctccccgaggatgcgtgtggtgtggactatccccatgagctgaccactac c.*1800
. . . . . . g.232856
ttgatttttctttggtggccgtaacaacctttaatttgtgggcatctgcaacagttcaaa c.*1860
. . . . . . g.232916
acccaccatcagataaaacataatccacaaaatctcacgctagaggcaattacctacttt c.*1920
. . . . . . g.232976
tagacccttttccctctttcattcctatctttttcctcctaatcgctgctctctggtttt c.*1980
. . . . . . g.233036
attttcatctggagactagccagggatttctttggctttggcttttctctgaccattttt c.*2040
. . . . . . g.233096
tccatgggtaacaatgggggatcctaaaagttaaacagattgggaaaaaccttgttaagt c.*2100
. . . . . . g.233156
ggccttatcattattatcatgttaaagaaaaaaaatacatttgcaaagaccttatccctt c.*2160
. . . . . . g.233216
tcaatacttcaggtatctttttctgtatccagtaattaaaggtgtgaggtccacatgcag c.*2220
. . . . . . g.233276
aagagggaccccaaaatgtaaatggatgtggacaaaaacagtcaatggtctatttaagtg c.*2280
. . . . . . g.233336
tataatttatactattcagaactgtgacattaattctttctgggagaaaagtgatttaaa c.*2340
. . . . . . g.233396
acttttttgatgcatagttgaggtacccaaatatcaaaggcagagaccccatggggctcc c.*2400
. . . . . . g.233456
aaagagctgcagtctccttcccaaggttttctggatataaatttgcatggtatagtcata c.*2460
. . . . . . g.233516
atagcttttgagctttttatatgcatttggcaccaagactgggatccacaactttgtaga c.*2520
. . . . . . g.233576
cactgcgatgaagttaacatattagctatactataaatagtgtttgtaactacacacaca c.*2580
. . . . . . g.233636
cacacacacacacacacaaatacatacatatattctgtaaaaacaaaaaaaaacttttta c.*2640
. . . . . . g.233696
agatccttgggtatgtgtttgctttactccatttcagaagaaaattacttttcttctaac c.*2700
. . . . . . g.233756
aaaattattttatagcttctccatttttaaaacttgtgagagcattgagaagagaactct c.*2760
. . . . . . g.233816
gactgtgttaacagaagagagttgaattggagtctctgttgtgttaaaatgacctctcgt c.*2820
. . . . . . g.233876
tactccacagtagttatttgagccagtgactgagtcgcgttgaggaattctgaacccgga c.*2880
. . . . . . g.233936
cctctgacgttgttgggaggtggctgttacccacacccagacctcttgagtaaggacaga c.*2940
. . . . . . g.233996
aacgttatcattggggatataatgagatttctttcttaacaattgaaagtaataaagagt c.*3000
. . . . . . g.234056
taattttctcagtagtcctgtctttccaaaatgcgccacaggggctcaagatctacagaa c.*3060
. . . . . . g.234116
gaatcttgttatgacagtttgttattacccatattcagatatccttgagataatggaaga c.*3120
. . . . . . g.234176
gccctgctacataactccctacagagaaagactgatagacttgagtagtccttaaaacaa c.*3180
. . . . . . g.234236
gtgttattcctgttcaccaaccccgggactgtggaggggtttcactgtctataccatgcg c.*3240
. . . . . . g.234296
acatccatttcccctgaatctcaaacgaactagaaagtatgtcatgataatatttccatt c.*3300
. . . . . . g.234356
agatttggaagctacctgtacatctgcaatattgtgtttttaacgccagcacccagaact c.*3360
. . . . . . g.234416
ttgacatgttcagtcactccctgaaaggcacttctctcttgtccaaacacagcgttgaca c.*3420
. . . . . . g.234476
tttttactgaggagatcatctcaaaggtgatgccaaacgagtctggggctggttttaagg c.*3480
. . . . . . g.234536
ggacaggcacattgcagttgtaggtgttcattttcagcatctagtagataatccattggt c.*3540
. . . . . . g.234596
gtttgtcccaccattggtgtattctaacaagaatgtgtccaactttgaatctcctggctt c.*3600
. . . . . . g.234656
gaaagtataaaccatcacttaattcttattttaactctccacctgaaaaccagttcatat c.*3660
. . . . . . g.234716
ttctggccattttatgtaagcaaaactgaacaattggtgaaacattttgttactcttgga c.*3720
. . . . . . g.234776
attgactctggctgtcagtgtgagccattagagtaacatcgaatcttggggcaaagaact c.*3780
. . . . . . g.234836
gcccaggtgaattaaatttttccaggacactagctagtgtgccttggattgattacctct c.*3840
. . . . . . g.234896
tctactgcattgaaaggcgccatgttttcctgaaatactaaattcccaacacctgggtaa c.*3900
. . . . . . g.234956
acaatgaccttccagagagtggctcccgtatgcctctccctaggaccaaccccatgaaca c.*3960
. . . . . . g.235016
tgttttgtcacgtttgtctcatgtttctacttcacaagtcagtgagtgtgtttaaggtaa c.*4020
. . . . . . g.235076
gtacaggattattctagtaggaataggcgattgctgtcataatcaattctcatgttgatt c.*4080
. . . . . . g.235136
tcattttattgtaaagataaatttaaacccagttttgcttaagcacattgatgtaatttt c.*4140
. . . . . . g.235196
ttggtattatttgacatgaaaaaacagcaaaattgagtgatagatacaatatgaaacttg c.*4200
. . . . g.235243
ttgatgaatgaattcaaatttattaaaaaaggagtaactgacctaaa c.*4247
(downstream sequence)
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