(used for variant description)
(last modified October 21, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_130839.2 in the UBE3A gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering UBE3A transcript NM_130839.2.
(upstream sequence)
. . . . g.5044
agccagtcctcccgtcttgcgccgcggccgcgagatccgtgtgt c.-661
. . . . . . g.5104
ctcccaagatggtggcgctgggctcggggtgactacaggagacgacggggccttttccct c.-601
. . . . . . g.5164
tcgccaggacccgacacaccaggcttcgctcgctcgcgcacccctccgccgcgtagccat c.-541
. . . . . . g.5224
ccgccagcgcgggcgcccgccatccgccgcctacttacgcttcacctctgccgacccggc c.-481
. . . . . . g.5284
gcgctcggctgcgggcggcggcgcctccttcggctcctcctcggaatagctcgcggcctg c.-421
. . . . . . g.5344
tagcccctggcaggagggcccctcagccccccggtgtggacaggcagcggcggctggcga c.-361
. . . . . . g.5404
cgaacgccgggatttcggcggccccggcgctccctttcccggcctcgttttccggataag c.-301
. . . . . . g.5464
gaagcgcgggtcccgcatgagccccggcggtggcggcagcgaaagagaacgaggcggtgg c.-241
. . . . . . g.5524
cgggcggaggcggcgggcgagggcgactacgaccagtgaggcggccgccgcagcccaggc c.-181
. . | 02 . . . . g.32101
gcgggggcgacgacag | gttaaaaatctgtaagagcctgattttagaattcaccagctcct c.-121
. . | 03 . . . g.34861
cagaagtttggcgaaatatg | agttattaagcctacgctcagatcaaggtagcagctagac c.-61
. . . . . . g.34921
tggtgtgacaacctgtttttaatcagtgactcaaagctgtgatcaccctgatgtcaccga c.-1
. . | 04 . . . . g.38566
ATGGCCACAGCTTGTAAAAG | ATCAGGAGAACCTCAGTCTGACGACATTGAAGCTAGCCGA c.60
M A T A C K R | S G E P Q S D D I E A S R p.20
| 05 . . . . . . g.68323
AT | GAAGCGAGCAGCTGCAAAGCATCTAATAGAACGCTACTACCACCAGTTAACTGAGGGC c.120
M | K R A A A K H L I E R Y Y H Q L T E G p.40
. . . . . . g.68383
TGTGGAAATGAAGCCTGCACGAATGAGTTTTGTGCTTCCTGTCCAACTTTTCTTCGTATG c.180
C G N E A C T N E F C A S C P T F L R M p.60
. . . . . . g.68443
GATAATAATGCAGCAGCTATTAAAGCCCTCGAGCTTTATAAGATTAATGCAAAACTCTGT c.240
D N N A A A I K A L E L Y K I N A K L C p.80
. . . . . . g.68503
GATCCTCATCCCTCCAAGAAAGGAGCAAGCTCAGCTTACCTTGAGAACTCGAAAGGTGCC c.300
D P H P S K K G A S S A Y L E N S K G A p.100
. . . . . . g.68563
CCCAACAACTCCTGCTCTGAGATAAAAATGAACAAGAAAGGCGCTAGAATTGATTTTAAA c.360
P N N S C S E I K M N K K G A R I D F K p.120
| 06 . . . . . . g.72275
G | ATGTGACTTACTTAACAGAAGAGAAGGTATATGAAATTCTTGAATTATGTAGAGAAAGA c.420
D | V T Y L T E E K V Y E I L E L C R E R p.140
. . . . . . g.72335
GAGGATTATTCCCCTTTAATCCGTGTTATTGGAAGAGTTTTTTCTAGTGCTGAGGCATTG c.480
E D Y S P L I R V I G R V F S S A E A L p.160
. . . . . . g.72395
GTACAGAGCTTCCGGAAAGTTAAACAACACACCAAGGAAGAACTGAAATCTCTTCAAGCA c.540
V Q S F R K V K Q H T K E E L K S L Q A p.180
. . . . . . g.72455
AAAGATGAAGACAAAGATGAAGATGAAAAGGAAAAAGCTGCATGTTCTGCTGCTGCTATG c.600
K D E D K D E D E K E K A A C S A A A M p.200
. . . . . . g.72515
GAAGAAGACTCAGAAGCATCTTCCTCAAGGATAGGTGATAGCTCACAGGGAGACAACAAT c.660
E E D S E A S S S R I G D S S Q G D N N p.220
. . . . . . g.72575
TTGCAAAAATTAGGCCCTGATGATGTGTCTGTGGATATTGATGCCATTAGAAGGGTCTAC c.720
L Q K L G P D D V S V D I D A I R R V Y p.240
. . . . . . g.72635
ACCAGATTGCTCTCTAATGAAAAAATTGAAACTGCCTTTCTCAATGCACTTGTATATTTG c.780
T R L L S N E K I E T A F L N A L V Y L p.260
. . . . . . g.72695
TCACCTAACGTGGAATGTGACTTGACGTATCACAATGTATACTCTCGAGATCCTAATTAT c.840
S P N V E C D L T Y H N V Y S R D P N Y p.280
. . . . . . g.72755
CTGAATTTGTTCATTATCGTAATGGAGAATAGAAATCTCCACAGTCCTGAATATCTGGAA c.900
L N L F I I V M E N R N L H S P E Y L E p.300
. . . . . . g.72815
ATGGCTTTGCCATTATTTTGCAAAGCGATGAGCAAGCTACCCCTTGCAGCCCAAGGAAAA c.960
M A L P L F C K A M S K L P L A A Q G K p.320
. . . . . . g.72875
CTGATCAGACTGTGGTCTAAATACAATGCAGACCAGATTCGGAGAATGATGGAGACATTT c.1020
L I R L W S K Y N A D Q I R R M M E T F p.340
. . . . . . g.72935
CAGCAACTTATTACTTATAAAGTCATAAGCAATGAATTTAACAGTCGAAATCTAGTGAAT c.1080
Q Q L I T Y K V I S N E F N S R N L V N p.360
. . . . . . g.72995
GATGATGATGCCATTGTTGCTGCTTCGAAGTGCTTGAAAATGGTTTACTATGCAAATGTA c.1140
D D D A I V A A S K C L K M V Y Y A N V p.380
. . . . . . g.73055
GTGGGAGGGGAAGTGGACACAAATCACAATGAAGAAGATGATGAAGAGCCCATCCCTGAG c.1200
V G G E V D T N H N E E D D E E P I P E p.400
. . . . . . g.73115
TCCAGCGAGCTGACACTTCAGGAACTTTTGGGAGAAGAAAGAAGAAACAAGAAAGGTCCT c.1260
S S E L T L Q E L L G E E R R N K K G P p.420
. . . . . . g.73175
CGAGTGGACCCCCTGGAAACTGAACTTGGTGTTAAAACCCTGGATTGTCGAAAACCACTT c.1320
R V D P L E T E L G V K T L D C R K P L p.440
. . . . . . g.73235
ATCCCTTTTGAAGAGTTTATTAATGAACCACTGAATGAGGTTCTAGAAATGGATAAAGAT c.1380
I P F E E F I N E P L N E V L E M D K D p.460
. . . . . . g.73295
TATACTTTTTTCAAAGTAGAAACAGAGAACAAATTCTCTTTTATGACATGTCCCTTTATA c.1440
Y T F F K V E T E N K F S F M T C P F I p.480
. . . . . . g.73355
TTGAATGCTGTCACAAAGAATTTGGGATTATATTATGACAATAGAATTCGCATGTACAGT c.1500
L N A V T K N L G L Y Y D N R I R M Y S p.500
. . . . . . g.73415
GAACGAAGAATCACTGTTCTCTACAGCTTAGTTCAAGGACAGCAGTTGAATCCATATTTG c.1560
E R R I T V L Y S L V Q G Q Q L N P Y L p.520
. . . . | 07 . g.83513
AGACTCAAAGTTAGACGTGACCATATCATAGATGATGCACTTGTCCGG | CTAGAGATGATC c.1620
R L K V R R D H I I D D A L V R | L E M I p.540
. . . . . . g.83573
GCTATGGAAAATCCTGCAGACTTGAAGAAGCAGTTGTATGTGGAATTTGAAGGAGAACAA c.1680
A M E N P A D L K K Q L Y V E F E G E Q p.560
. . . . . . g.83633
GGAGTTGATGAGGGAGGTGTTTCCAAAGAATTTTTTCAGCTGGTTGTGGAGGAAATCTTC c.1740
G V D E G G V S K E F F Q L V V E E I F p.580
. | 08 . . . . . g.87179
AATCCAGATATTG | GTATGTTCACATACGATGAATCTACAAAATTGTTTTGGTTTAATCCA c.1800
N P D I G | M F T Y D E S T K L F W F N P p.600
. . . . . . g.87239
TCTTCTTTTGAAACTGAGGGTCAGTTTACTCTGATTGGCATAGTACTGGGTCTGGCTATT c.1860
S S F E T E G Q F T L I G I V L G L A I p.620
. . . . . . g.87299
TACAATAACTGTATACTGGATGTACATTTTCCCATGGTTGTCTACAGGAAGCTAATGGGG c.1920
Y N N C I L D V H F P M V V Y R K L M G p.640
. . . | 09 . . g.87993
AAAAAAGGAACTTTTCGTGACTTGGGAGACTCTCACCCA | GTTCTATATCAGAGTTTAAAA c.1980
K K G T F R D L G D S H P | V L Y Q S L K p.660
. . . . . . g.88053
GATTTATTGGAGTATGAAGGGAATGTGGAAGATGACATGATGATCACTTTCCAGATATCA c.2040
D L L E Y E G N V E D D M M I T F Q I S p.680
. . . . . . g.88113
CAGACAGATCTTTTTGGTAACCCAATGATGTATGATCTAAAGGAAAATGGTGATAAAATT c.2100
Q T D L F G N P M M Y D L K E N G D K I p.700
. . | 10 . . . . g.89381
CCAATTACAAATGAAAACAGGAAG | GAATTTGTCAATCTTTATTCTGACTACATTCTCAAT c.2160
P I T N E N R K | E F V N L Y S D Y I L N p.720
. . . . . . g.89441
AAATCAGTAGAAAAACAGTTCAAGGCTTTTCGGAGAGGTTTTCATATGGTGACCAATGAA c.2220
K S V E K Q F K A F R R G F H M V T N E p.740
. . . . . . g.89501
TCTCCCTTAAAGTACTTATTCAGACCAGAAGAAATTGAATTGCTTATATGTGGAAGCCGG c.2280
S P L K Y L F R P E E I E L L I C G S R p.760
| 11 . . . . . . g.89662
| AATCTAGATTTCCAAGCACTAGAAGAAACTACAGAATATGACGGTGGCTATACCAGGGAC c.2340
| N L D F Q A L E E T T E Y D G G Y T R D p.780
. | 12 . . . . . g.103846
TCTGTTCTGATTAG | GGAGTTCTGGGAAATCGTTCATTCATTTACAGATGAACAGAAAAGA c.2400
S V L I R | E F W E I V H S F T D E Q K R p.800
. . . . . . g.103906
CTCTTCTTGCAGTTTACAACGGGCACAGACAGAGCACCTGTGGGAGGACTAGGAAAATTA c.2460
L F L Q F T T G T D R A P V G G L G K L p.820
. . . | 13 . . g.104793
AAGATGATTATAGCCAAAAATGGCCCAGACACAGAAAG | GTTACCTACATCTCATACTTGC c.2520
K M I I A K N G P D T E R | L P T S H T C p.840
. . . . . . g.104853
TTTAATGTGCTTTTACTTCCGGAATACTCAAGCAAAGAAAAACTTAAAGAGAGATTGTTG c.2580
F N V L L L P E Y S S K E K L K E R L L p.860
. . . g.104892
AAGGCCATCACGTATGCCAAAGGATTTGGCATGCTGTAA c.2619
K A I T Y A K G F G M L X p.872
. . . . . . g.104952
aacaaaacaaaacaaaataaaacaaaaaaaaggaaggaaaaaaaaagaaaaaatttaaaa c.*60
. . . . . . g.105012
aattttaaaaatataacgagggataaatttttggtggtgatagtgtcccagtacaaaaag c.*120
. . . . . . g.105072
gctgtaagatagtcaaccacagtagtcacctatgtctgtgcctcccttctttattgggga c.*180
. . . . . . g.105132
catgtgggctggaacagcagatttcagctacatatatgaacaaatcctttattattatta c.*240
. . . . . . g.105192
taattatttttttgcgtgaaagtgttacatattctttcacttgtatgtacagagaggttt c.*300
. . . . . . g.105252
ttctgaatatttattttaagggttaaatcacttttgcttgtgtttattactgcttgaggt c.*360
. . . . . . g.105312
tgagccttttgagtatttaaaaaatatataccaacagaactactctcccaaggaaaatat c.*420
. . . . . . g.105372
tgccaccatttgtagaccacgtaaccttcaagtatgtgctacttttttgtccctgtatct c.*480
. . . . . . g.105432
aactcaaatcaggaactgtattttttttaatgatttgcttttgaaacttgaagtcttgaa c.*540
. . . . . . g.105492
aacagtgtgatgcaattactgctgttctagcccccaaagagttttctgtgcaaaatcttg c.*600
. . . . . . g.105552
agaatcaatcaataaagaaagatggaaggaagggagaaattggaatgttttaactgcagc c.*660
. . . . . . g.105612
cctcagaactttagtaacagcacaacaaattaaaaacaaaaacaactcatgccacagtat c.*720
. . . . . . g.105672
gtcgtcttcatgtgtcttgcaatgaactgtttcagtagccaatcctctttcttagtatat c.*780
. . . . . . g.105732
gaaaggacagggatttttgttcttgttgttctcgttgttgttttaagtttactggggaaa c.*840
. . . . . . g.105792
gtgcatttggccaaatgaaatggtagtcaagcctattgcaacaaagttaggaagtttgtt c.*900
. . . . . . g.105852
gtttgtttattataaacaaaaagcatgtgaaagtgcacttaagatagagtttttattaat c.*960
. . . . . . g.105912
tacttacttattacctagattttaaatagacaatccaaagtctccccttcgtgttgccat c.*1020
. . . . . . g.105972
catcttgttgaatcagccattttatcgaggcacgtgatcagtgttgcaacataatgaaaa c.*1080
. . . . . . g.106032
agatggctactgtgccttgtgttacttaatcatacagtaagctgacctggaaatgaatga c.*1140
. . . . . . g.106092
aactattactcctaagaattacattgtatagccccacagattaaatttaattaattaatt c.*1200
. . . . . . g.106152
caaaacatgttaaacgttactttcatgtactatggaaaagtacaagtaggtttacattac c.*1260
. . . . . . g.106212
tgatttccagaagtaagtagtttcccctttcctagtcttctgtgtatgtgatgttgttaa c.*1320
. . . . . . g.106272
tttcttttattgcattataaaataaaaggattatgtatttttaactaaggtgagacattg c.*1380
. . . . . . g.106332
atatatccttttgctacaagctatagctaatgtgctgagcttgtgccttggtgattgatt c.*1440
. . . . . . g.106392
gattgattgactgattgttttaactgattactgtagatcaacctgatgatttgtttgttt c.*1500
. . . . . . g.106452
gaaattggcaggaaaaatgcagctttcaaatcattggggggagaaaaaggatgtctttca c.*1560
. . . . . . g.106512
ggattattttaattaatttttttcataattgagacagaactgtttgttatgtaccataat c.*1620
. . . . . . g.106572
gctaaataaaactgtggcacttttcaccataatttaatttagtggaaaaagaagacaatg c.*1680
. . . . . . g.106632
ctttccatattgtgataaggtaacatggggtttttctgggccagcctttagaacactgtt c.*1740
. . . . . . g.106692
agggtacatacgctaccttgatgaaagggaccttcgtgcaactgtagtcatcttaaaggc c.*1800
. . . . . . g.106752
ttctcatccactgtgcttcttaatgtgtaattaaagtgaggagaaattaaatactctgag c.*1860
. . g.106780
ggcgttttatataataaattcgtgaaga c.*1888
(downstream sequence)
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