(used for variant description)
(last modified September 28, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_007363.4 in the NONO gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering NONO transcript NM_007363.4.
(upstream sequence)
. . . . . g.5056
caggcgcagtgcaggactgctccgagcacgcctacgcgcgcattttctccccttcc c.-541
. . . . . . g.5116
tctccctctttccactttcctctccctttttctcctctcctttccccctcccaccacttg c.-481
. . . . . . g.5176
gtctttcagtctttcagtcagttcgtttaggtctctccttccgacccccacccccagctc c.-421
. . . . . . g.5236
ctctccctttccttttccccctccccctttcctttcccgtctcacgcgccaggccgcttg c.-361
. . . . . . g.5296
cacatgcgcattaggtacaaagcctcgctctttgtccccatctgtcgttcacacgaactc c.-301
. . . . . . g.5356
aagcctttggcattcggcagccaatagaatctaagaaatggcggaaaaatgattccgcct c.-241
. . . . . . g.5416
cgggagctaaaccttgattggcagtttagctaaccaatcgagaacgccattttgtacccc c.-181
. . . . . . g.5476
ttggcaggcaccgagctccgtcgtctcgtttccggcggtcgcgcgctcttttctcgggac c.-121
. . . . . . | 02 g.6211
gggagaggccgtgtagcgtcgccgttactccgaggagataccagtcggtagagg | agaagt c.-61
. . . . . . | 03 g.12446
cgaggttagagggaactgggaggcactttgctgtctgcaatcgaagttgag | ggtgcaaaa c.-1
. . . . . . g.12506
ATGCAGAGTAATAAAACTTTTAACTTGGAGAAGCAAAACCATACTCCAAGAAAGCATCAT c.60
M Q S N K T F N L E K Q N H T P R K H H p.20
. . . . . . g.12566
CAACATCACCACCAGCAGCAGCACCACCAGCAGCAACAGCAGCAGCCGCCACCACCGCCA c.120
Q H H H Q Q Q H H Q Q Q Q Q Q P P P P P p.40
. . . | 04 . . . g.13613
ATACCTGCAAATGGGCAACAGGCCAGCAGCCAAA | ATGAAGGCTTGACTATTGACCTGAAG c.180
I P A N G Q Q A S S Q N | E G L T I D L K p.60
. . . . . . g.13673
AATTTTAGAAAACCAGGAGAGAAGACCTTCACCCAACGAAGCCGTCTTTTTGTGGGAAAT c.240
N F R K P G E K T F T Q R S R L F V G N p.80
. . . . . . g.13733
CTTCCTCCCGACATCACTGAGGAAGAAATGAGGAAACTATTTGAGAAATATGGAAAGGCA c.300
L P P D I T E E E M R K L F E K Y G K A p.100
. . . . | 05 . g.16047
GGCGAAGTCTTCATTCATAAGGATAAAGGATTTGGCTTTATCCGCTTG | GAAACCCGAACC c.360
G E V F I H K D K G F G F I R L | E T R T p.120
. . . . . . g.16107
CTAGCGGAGATTGCCAAAGTGGAGCTGGACAATATGCCACTCCGTGGAAAGCAGCTGCGT c.420
L A E I A K V E L D N M P L R G K Q L R p.140
. . . . . . g.16167
GTGCGCTTTGCCTGCCATAGTGCATCCCTTACAGTTCGAAACCTTCCTCAGTATGTGTCC c.480
V R F A C H S A S L T V R N L P Q Y V S p.160
. . . . . . g.16227
AACGAACTGCTGGAAGAAGCCTTTTCTGTGTTTGGCCAGGTAGAGAGGGCTGTAGTCATT c.540
N E L L E E A F S V F G Q V E R A V V I p.180
. . . . . . g.16287
GTGGATGATCGAGGAAGGCCCTCAGGAAAAGGCATTGTTGAGTTCTCAGGGAAGCCAGCT c.600
V D D R G R P S G K G I V E F S G K P A p.200
. . . . . | 06 . g.18383
GCTCGGAAAGCTCTGGACAGATGCAGTGAAGGCTCCTTCCTGCTAACCAC | ATTTCCTCGT c.660
A R K A L D R C S E G S F L L T T | F P R p.220
. . . . . . g.18443
CCTGTGACTGTGGAGCCCATGGACCAGTTAGATGATGAAGAGGGACTTCCAGAGAAGCTG c.720
P V T V E P M D Q L D D E E G L P E K L p.240
. . | 07 . . . . g.18693
GTTATAAAAAACCAGCAATTTCACAA | GGAACGAGAGCAGCCACCCAGATTTGCACAGCCT c.780
V I K N Q Q F H K | E R E Q P P R F A Q P p.260
. . . . . . g.18753
GGCTCCTTTGAGTATGAATATGCCATGCGCTGGAAGGCACTCATTGAGATGGAGAAGCAG c.840
G S F E Y E Y A M R W K A L I E M E K Q p.280
. . . . . . g.18813
CAGCAGGACCAAGTGGACCGCAACATCAAGGAGGCTCGTGAGAAGCTGGAGATGGAGATG c.900
Q Q D Q V D R N I K E A R E K L E M E M p.300
. . . . | 08 . . g.19202
GAAGCTGCACGCCATGAGCACCAGGTCATGCTAATGAGACAGG | ATTTGATGAGGCGCCAA c.960
E A A R H E H Q V M L M R Q D | L M R R Q p.320
. . . . . . g.19262
GAAGAACTTCGGAGGATGGAAGAGCTGCACAACCAAGAGGTGCAAAAACGAAAGCAACTG c.1020
E E L R R M E E L H N Q E V Q K R K Q L p.340
| 09 . . . . . g.19696
GAGCTCAG | GCAGGAGGAAGAGCGCAGGCGCCGTGAAGAAGAGATGCGGCGGCAGCAAGAA c.1080
E L R | Q E E E R R R R E E E M R R Q Q E p.360
. . . . . | 10 . g.20286
GAAATGATGCGGCGACAGCAGGAAGGATTCAAGGGAACCTTCCCTGATGCG | AGAGAGCAG c.1140
E M M R R Q Q E G F K G T F P D A | R E Q p.380
. . . | 11 . . . g.20544
GAGATTCGGATGGGTCAGATGGCTATGGGAG | GTGCTATGGGCATAAACAACAGAGGTGCC c.1200
E I R M G Q M A M G G | A M G I N N R G A p.400
. . . . . . g.20604
ATGCCCCCTGCTCCTGTGCCAGCTGGTACCCCAGCTCCTCCAGGACCTGCCACTATGATG c.1260
M P P A P V P A G T P A P P G P A T M M p.420
. . | 12 . . . . g.21789
CCGGATGGAACTTTGGGATTG | ACCCCACCAACAACTGAACGCTTTGGTCAGGCTGCTACA c.1320
P D G T L G L | T P P T T E R F G Q A A T p.440
. . . . . . g.21849
ATGGAAGGAATTGGGGCAATTGGTGGAACTCCTCCTGCATTCAACCGTGCAGCTCCTGGA c.1380
M E G I G A I G G T P P A F N R A A P G p.460
. . . g.21885
GCTGAATTTGCCCCAAACAAACGTCGCCGATACTAA c.1416
A E F A P N K R R R Y X p.471
. . . . . . g.21945
taagttgcagtgtctagtttctcaaaacccttaaaagaaggaccctttttggactagcca c.*60
. . . . . . g.22005
gaattctaccctggaaaagtgttagggattccttccaatagttagatctaccctgcctgt c.*120
. . . . . . g.22065
actactctagggagtatgctggaggcagagggcaagggaggggtggtattaaacaagtca c.*180
. . . . . . g.22125
attctgtgtggtatattgtttaatcagttctgtgtggtgcattcctgaagtctctaatgt c.*240
. . . . . . g.22185
gactgttgagggcctggggaaaccatggcaaagtggatccagttagagcccattaatctt c.*300
. . . . . . g.22245
gatcattccggttttttttttttttgtccatcttgtttcatttgcttgccccgcccccga c.*360
. . . . . . g.22305
gacggagtcttactctgtcgcccaggctggagtgtagtggcatgatctcggctcactgca c.*420
. . . . . . g.22365
atctctgcctcccgggttcaagcttgtccaggttgatcttgaactcctgacctcgtgatc c.*480
. . . . . . g.22425
tacccacctcggcctcccaaaatgctgggattacaggggtgagccaccgtgcccaacctc c.*540
. . . . . . g.22485
acttgcttcttatccttacactcccccagccccagagaaactgccacatacaccacaaaa c.*600
. . . . . . g.22545
accaaacatcccccaatgaccttagccccattgctccattcactcccaggtgagaattca c.*660
. . . . . . g.22605
ggcaaacgtccacaaaggtcacaggcagcgtacatacggttctgttataccccatatatt c.*720
. . . . . . g.22665
accccttcatgtcctaaagaagacattttctcttagagattttcattttagtgtatcttt c.*780
. . . . . . g.22725
aaaaaaaaatcttgtgttaacttgcctccatctttttcttgggtgaggacacccaggaat c.*840
. . . . . . g.22785
gacccttttgtgtctatgatgttgctgttcacagcttttcttgataggcctagtacaatc c.*900
. . . . . . g.22845
ttgggaacagggttactgtatactgaaggtctgacagtagctcttagactcgcctatctt c.*960
. . . . . . g.22905
aggtagtcatgctgtgcattttttttttcattggtgtactgtgtttgatttgtctcatat c.*1020
. . . . . . g.22965
atttggagtttttctgaaaaatggagcagtaatgcagcatcaacctattaaaatacattt c.*1080
. g.22977
taagccttttaa c.*1092
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 28
©2004-2022 Leiden University Medical Center