(used for variant description)
(last modified April 4, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_003334.3 in the UBA1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009161.1, covering UBA1 transcript NM_003334.3.
(upstream sequence)
. . . . g.8045
gttccggccccaggctcagcgtccgccatcttgtgtcggcggc c.-181
. . . . . . g.8105
tcggctgtaaggaggtggcagggacaaccacaaccacaacggccgggggaggagaaggcg c.-121
. . . . . . g.8165
gcagcggcgattctaggcggcccaggcggcggggaggaggagaaggaggagggtggcggc c.-61
. . . . . . g.8225
cgggcttggcttcggctccttgaggagttggcggcggcgcgacccggggaaccggcattg c.-1
| 02 . . . . . . g.13063
| ATGTCCAGCTCGCCGCTGTCCAAGAAACGTCGCGTGTCCGGGCCTGATCCAAAGCCGGGT c.60
| M S S S P L S K K R R V S G P D P K P G p.20
. . . . . | 03. g.13251
TCTAACTGCTCCCCTGCCCAGTCCGTGTTGTCCGAAGTGCCCTCGGTGCCAACCAAC | GGA c.120
S N C S P A Q S V L S E V P S V P T N | G p.40
. . . . . | 04 . g.13413
ATGGCCAAGAACGGCAGTGAAGCAGACATAGACGAGGGCCTTTACTCCCGGCAGCT | GTAT c.180
M A K N G S E A D I D E G L Y S R Q L | Y p.60
. . . . . . g.13473
GTGTTGGGCCATGAGGCAATGAAGCGGCTCCAGACATCCAGTGTCCTGGTATCAGGCCTG c.240
V L G H E A M K R L Q T S S V L V S G L p.80
. . . . . . g.13533
CGGGGCCTGGGCGTGGAGATCGCTAAGAACATCATCCTTGGTGGGGTCAAGGCTGTTACC c.300
R G L G V E I A K N I I L G G V K A V T p.100
. . . . | 05 . . g.13695
CTACATGACCAGGGCACTGCCCAGTGGGCTGATCTTTCCTCCCAG | TTCTACCTGCGGGAG c.360
L H D Q G T A Q W A D L S S Q | F Y L R E p.120
. . . . . . g.13755
GAGGACATCGGTAAAAACCGGGCCGAGGTATCACAGCCCCGCCTCGCTGAGCTCAACAGC c.420
E D I G K N R A E V S Q P R L A E L N S p.140
. . . . . . g.13815
TATGTGCCTGTCACTGCCTACACTGGACCCCTCGTTGAGGACTTCCTTAGTGGTTTCCAG c.480
Y V P V T A Y T G P L V E D F L S G F Q p.160
| 06 . . . . . . g.15154
| GTGGTGGTGCTCACCAACACCCCCCTGGAGGACCAGCTGCGAGTGGGTGAGTTCTGTCAC c.540
| V V V L T N T P L E D Q L R V G E F C H p.180
. . . . | 07. . g.15489
AACCGTGGCATCAAGCTGGTGGTGGCAGACACGCGGGGCCTGTTTGG | GCAGCTCTTCTGT c.600
N R G I K L V V A D T R G L F G | Q L F C p.200
. . . . . . g.15549
GACTTTGGAGAGGAAATGATCCTCACAGATTCCAATGGGGAGCAGCCACTCAGTGCTATG c.660
D F G E E M I L T D S N G E Q P L S A M p.220
. | 08 . . . . g.15720
GTTTCTATGGTTACCAAG | GACAACCCCGGTGTGGTTACCTGCCTGGATGAGGCCCGACAC c.720
V S M V T K | D N P G V V T C L D E A R H p.240
. . . . . . g.15780
GGGTTTGAGAGCGGGGACTTTGTCTCCTTTTCAGAAGTACAGGGCATGGTTGAACTCAAC c.780
G F E S G D F V S F S E V Q G M V E L N p.260
. . . | 09 . . . g.16385
GGAAATCAGCCCATGGAGATCAAAGTCCTGG | GTCCTTATACCTTTAGCATCTGTGACACC c.840
G N Q P M E I K V L G | P Y T F S I C D T p.280
. . . . . . g.16445
TCCAACTTCTCCGACTACATCCGTGGAGGCATCGTCAGTCAGGTCAAAGTACCTAAGAAG c.900
S N F S D Y I R G G I V S Q V K V P K K p.300
| 10 . . . . . g.16609
ATTAGCTTT | AAATCCTTGGTGGCCTCACTGGCAGAACCTGACTTTGTGGTGACGGACTTC c.960
I S F | K S L V A S L A E P D F V V T D F p.320
. . . . . . g.16669
GCCAAGTTTTCTCGCCCTGCCCAGCTGCACATTGGCTTCCAGGCCCTGCACCAGTTCTGT c.1020
A K F S R P A Q L H I G F Q A L H Q F C p.340
. . . | 11 . . . g.16862
GCTCAGCATGGCCGGCCACCTCGGCCCCGCAATGAG | GAGGATGCAGCAGAACTGGTAGCC c.1080
A Q H G R P P R P R N E | E D A A E L V A p.360
. . . . . . g.16922
TTAGCACAGGCTGTGAATGCTCGAGCCCTGCCAGCAGTGCAGCAAAATAACCTGGACGAG c.1140
L A Q A V N A R A L P A V Q Q N N L D E p.380
. . . . . . g.16982
GACCTCATCCGGAAGCTGGCATATGTGGCTGCTGGGGATCTGGCACCCATAAACGCCTTC c.1200
D L I R K L A Y V A A G D L A P I N A F p.400
. . . | 12 . . . g.17170
ATTGGGGGCCTGGCTGCCCAGGAAGTCATGAAG | GCCTGCTCCGGGAAGTTCATGCCCATC c.1260
I G G L A A Q E V M K | A C S G K F M P I p.420
. . . . . . g.17230
ATGCAGTGGCTATACTTTGATGCCCTTGAGTGTCTCCCTGAGGACAAAGAGGTCCTCACA c.1320
M Q W L Y F D A L E C L P E D K E V L T p.440
. | 13 . . . . g.17376
GAGGACAAGTGCCTCCAG | CGCCAGAACCGTTATGACGGGCAAGTGGCTGTGTTTGGCTCA c.1380
E D K C L Q | R Q N R Y D G Q V A V F G S p.460
. . . | 14 . . g.17762
GACCTGCAAGAGAAGCTGGGCAAGCAGAAGTATTTCCTG | GTGGGTGCGGGGGCCATTGGC c.1440
D L Q E K L G K Q K Y F L | V G A G A I G p.480
. . . . . . g.17822
TGTGAGCTGCTCAAGAACTTTGCCATGATTGGGCTGGGCTGCGGGGAGGGTGGAGAAATC c.1500
C E L L K N F A M I G L G C G E G G E I p.500
. . . . . . g.17882
ATCGTTACAGACATGGACACCATTGAGAAGTCAAATCTGAATCGACAGTTTCTTTTCCGG c.1560
I V T D M D T I E K S N L N R Q F L F R p.520
. | 15 . . . . . g.20193
CCCTGGGATGTCACG | AAGTTAAAGTCTGACACGGCTGCTGCAGCTGTGCGCCAAATGAAT c.1620
P W D V T | K L K S D T A A A A V R Q M N p.540
. . . . . . g.20253
CCACATATCCGGGTGACAAGCCACCAGAACCGTGTGGGTCCTGACACGGAGCGCATCTAT c.1680
P H I R V T S H Q N R V G P D T E R I Y p.560
. . . . . . g.20313
GATGACGATTTTTTCCAAAACCTAGATGGCGTGGCCAATGCCCTGGACAACGTGGATGCC c.1740
D D D F F Q N L D G V A N A L D N V D A p.580
| 16 . . . . . . g.20507
C | GCATGTACATGGACCGCCGCTGTGTCTACTACCGGAAGCCACTGCTGGAGTCAGGCACA c.1800
R | M Y M D R R C V Y Y R K P L L E S G T p.600
. . . . . . g.20567
CTGGGCACCAAAGGCAATGTGCAGGTGGTGATCCCCTTCCTGACAGAGTCGTACAGTTCC c.1860
L G T K G N V Q V V I P F L T E S Y S S p.620
. . . . . . g.20627
AGCCAGGACCCACCTGAGAAGTCCATCCCCATCTGTACCCTGAAGAACTTCCCTAATGCC c.1920
S Q D P P E K S I P I C T L K N F P N A p.640
. | 17 . . . . g.23865
ATCGAGCACACCCTGCAG | TGGGCTCGGGATGAGTTTGAAGGCCTCTTCAAGCAGCCAGCA c.1980
I E H T L Q | W A R D E F E G L F K Q P A p.660
. . | 18 . . . . g.24165
GAAAATGTCAACCAGTACCTCAC | AGACCCCAAGTTTGTGGAGCGAACACTGCGGCTGGCA c.2040
E N V N Q Y L T | D P K F V E R T L R L A p.680
. . . . . . g.24225
GGCACTCAGCCCTTGGAGGTGCTGGAGGCTGTGCAGCGCAGCCTGGTGCTGCAGCGACCA c.2100
G T Q P L E V L E A V Q R S L V L Q R P p.700
. . . . . . g.24285
CAGACCTGGGCTGACTGCGTGACCTGGGCCTGCCACCACTGGCACACCCAGTACTCGAAC c.2160
Q T W A D C V T W A C H H W H T Q Y S N p.720
. . . | 19 . . g.25063
AACATCCGGCAGCTGCTGCACAACTTCCCTCCTGACCAG | CTCACAAGCTCAGGAGCGCCG c.2220
N I R Q L L H N F P P D Q | L T S S G A P p.740
. . . . . | 20 . g.25242
TTCTGGTCTGGGCCCAAACGCTGTCCACACCCGCTCACCTTTGATGTCAACAAT | CCCCTG c.2280
F W S G P K R C P H P L T F D V N N | P L p.760
. . . . . . g.25302
CATCTGGACTATGTGATGGCTGCTGCCAACCTGTTTGCCCAGACCTACGGGCTGACAGGC c.2340
H L D Y V M A A A N L F A Q T Y G L T G p.780
. . . . . . g.25362
TCTCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGCAGGTCCCCGAATTCACC c.2400
S Q D R A A V A T F L Q S V Q V P E F T p.800
. . . . . . g.25422
CCCAAGTCTGGCGTCAAGATCCATGTTTCTGACCAGGAGCTGCAGAGCGCCAATGCCTCT c.2460
P K S G V K I H V S D Q E L Q S A N A S p.820
| 21 . . . . . . g.26680
GTTG | ATGACAGTCGTCTAGAGGAGCTCAAAGCCACTCTGCCCAGCCCAGACAAGCTCCCT c.2520
V D | D S R L E E L K A T L P S P D K L P p.840
. . . | 22 . . . g.26998
GGATTCAAGATGTACCCCATTGACTTTGAGAAG | GATGATGACAGCAACTTTCATATGGAT c.2580
G F K M Y P I D F E K | D D D S N F H M D p.860
. . . . . . g.27058
TTCATCGTGGCTGCATCCAACCTCCGGGCAGAAAACTATGACATTCCTTCTGCAGACCGG c.2640
F I V A A S N L R A E N Y D I P S A D R p.880
| 23 . . . . . . g.27244
CACAAG | AGCAAGCTGATTGCAGGGAAGATCATCCCAGCCATTGCCACGACCACAGCAGCC c.2700
H K | S K L I A G K I I P A I A T T T A A p.900
. . . . . . g.27304
GTGGTTGGCCTTGTGTGTCTGGAGCTGTACAAGGTTGTGCAGGGGCACCGACAGCTTGAC c.2760
V V G L V C L E L Y K V V Q G H R Q L D p.920
. . . . . . g.27364
TCCTACAAGAATGGTTTCCTCAACTTGGCCCTGCCTTTCTTTGGTTTCTCTGAACCCCTT c.2820
S Y K N G F L N L A L P F F G F S E P L p.940
. | 24 . . . . g.28569
GCCGCACCACGTCACCAG | TACTATAACCAAGAGTGGACATTGTGGGATCGCTTTGAGGTA c.2880
A A P R H Q | Y Y N Q E W T L W D R F E V p.960
. . . . . . g.28629
CAAGGGCTGCAGCCTAATGGTGAGGAGATGACCCTCAAACAGTTCCTCGACTATTTTAAG c.2940
Q G L Q P N G E E M T L K Q F L D Y F K p.980
| 25 . . . . . . g.28797
| ACAGAGCACAAATTAGAGATCACCATGCTGTCCCAGGGCGTGTCCATGCTCTATTCCTTC c.3000
| T E H K L E I T M L S Q G V S M L Y S F p.1000
. . . . | 26 . . g.29013
TTCATGCCAGCTGCCAAGCTCAAGGAACGGTTGGATCAGCC | GATGACAGAGATTGTGAGC c.3060
F M P A A K L K E R L D Q P | M T E I V S p.1020
. . . . . . g.29073
CGTGTGTCGAAGCGAAAGCTGGGCCGCCACGTGCGGGCGCTGGTGCTTGAGCTGTGCTGT c.3120
R V S K R K L G R H V R A L V L E L C C p.1040
. . . . . g.29130
AACGACGAGAGCGGCGAGGATGTCGAGGTTCCCTATGTCCGATACACCATCCGCTGA c.3177
N D E S G E D V E V P Y V R Y T I R X p.1058
. . . . . . g.29190
ccccgtctgctcctctaggctggccccttgtccacccctctccacaccccttccagccca c.*60
. . . . . . g.29250
gggttcccatttggcttctggcagtggcccaactagccaagtctggtgttccctcatcat c.*120
. . . . . . g.29310
ccccctacctgaacccctcttgccactgccttctaccttgtttgaaacctgaatcctaat c.*180
. g.29329
aaagaattaataactccca c.*199
(downstream sequence)
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