(used for variant description)
(last modified October 10, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_130466.3 in the UBE3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000012.11, covering UBE3B transcript NM_130466.3.
(upstream sequence)
. g.5014
gttctgaaagcgaa c.-601
. . . . . . g.5074
caccgcggggcaagatggcggtagtgcgtcggctgctgccccgggtctggcagaactcgg c.-541
. . . . . . g.5134
gtgttttgggctgagacagtggcagctgcggccccgaccccaagtgcggggacctccggc c.-481
. . . . . . g.5194
gaataaaggtcggcctgcgggtaggccggtagggcctgcggtccggcctgcgggagaact c.-421
. . . . . . g.5254
gggtcgtcagtcctccgagtggtggggctggggactttgagggagttggctctagggcac c.-361
. . . . . . g.5314
agtccctgcctggccaggtcggaggaacaagtgctgggatctggcgtgtgtgctccaggg c.-301
. . . . . . g.5374
gctctttccgcggccctttccacctcttttcactttggggacggtaggcctttataaacg c.-241
. . . . . . g.5434
gactaatgctgggtgatttgttcctgtggttgttgatgccgaggaaagactctgggcccc c.-181
. . . . . . | 02 g.9021
aggactcacctaaactggagttcgaatactgttcgctcgctgtgtgaccttgg | aaaaaat c.-121
. . . . . . g.9081
aacaagcttttctgaagtgagaagctgttctcagccacgagtcctgtgcaagatcactaa c.-61
. . . . | 03 . g.10929
tgattacctggcatttctgcgacacaggcaggtcctcag | ggtttgtgcaagtttgcaaac c.-1
. . . . . . g.10989
ATGTTCACCCTGTCTCAGACCTCGAGAGCATGGTTCATCGATAGAGCCCGTCAGGCACGA c.60
M F T L S Q T S R A W F I D R A R Q A R p.20
. . . . . . g.11049
GAAGAAAGGCTTGTGCAGAAGGAACGGGAGCGGGCAGCTGTTGTGATCCAGGCCCATGTC c.120
E E R L V Q K E R E R A A V V I Q A H V p.40
. . . . | 04 . . g.11257
CGGAGTTTTCTCTGTCGGAGTCGACTGCAGAGAGATATCAG | GAGAGAGATTGATGACTTT c.180
R S F L C R S R L Q R D I R | R E I D D F p.60
. . . . . . g.11317
TTTAAAGCAGATGACCCTGAGTCCACTAAAAGAAGTGCACTTTGTATTTTCAAGATTGCC c.240
F K A D D P E S T K R S A L C I F K I A p.80
. . . . | 05 . . g.13407
AGGAAACTGCTGTTCCTATTCAGAATCAAAGAGGATAATGAG | AGATTTGAGAAGTTGTGT c.300
R K L L F L F R I K E D N E | R F E K L C p.100
. . . . | 06 . . g.13866
CGCAGCATCCTGAGCAGCATGGATGCTGAGAATGAGCCTAAG | GTGTGGTATGTGTCCCTG c.360
R S I L S S M D A E N E P K | V W Y V S L p.120
. . . . . . g.13926
GCTTGTTCTAAGGACCTCACCCTCCTTTGGATTCAACAGATCAAGAACATTTTGTGGTAC c.420
A C S K D L T L L W I Q Q I K N I L W Y p.140
. . | 07. . . . g.15982
TGCTGTGATTTTCTCAAGCAGCTCAAG | CCTGAAATCCTGCAGGACTCCCGACTCATCACC c.480
C C D F L K Q L K | P E I L Q D S R L I T p.160
. . . . . . g.16042
CTGTACCTCACGATGCTTGTCACCTTCACAGACACTTCAACGTGGAAAATTCTTCGGGGA c.540
L Y L T M L V T F T D T S T W K I L R G p.180
| 08 . . . . . . g.17352
AAAG | GTGAAAGTCTTCGACCAGCGATGAACCACATTTGTGCAAATATAATGGGACATCTC c.600
K G | E S L R P A M N H I C A N I M G H L p.200
. . . | 09 . . . g.18452
AACCAGCATGGATTTTATTCTGTGCTGCAG | ATATTGTTAACCCGTGGCCTGGCAAGACCC c.660
N Q H G F Y S V L Q | I L L T R G L A R P p.220
. . . . . | 10 . g.25202
CGTCCTTGTCTATCCAAAGGCACTTTAACAGCAGCTTTTTCTCTAGCGTTACG | CCCTGTG c.720
R P C L S K G T L T A A F S L A L R | P V p.240
. . . . . . g.25262
ATTGCTGCACAGTTCTCAGACAATCTGATTCGGCCGTTCCTCATCCACATCATGTCTGTG c.780
I A A Q F S D N L I R P F L I H I M S V p.260
. . . | 11 . . g.25631
CCTGCTCTGGTGACTCATCTCAGCACAGTGACCCCTGAG | CGCCTCACTGTTTTAGAATCC c.840
P A L V T H L S T V T P E | R L T V L E S p.280
. . . . . . g.25691
CATGACATGCTTCGTAAATTCATCATATTTTTAAGAGACCAAGATCGATGCCGTGATGTA c.900
H D M L R K F I I F L R D Q D R C R D V p.300
. . . . | 12 . . g.27030
TGTGAAAGTTTAGAAGGATGCCATACGCTTTGTCTAATGG | GCAACCTCCTACACTTGGGC c.960
C E S L E G C H T L C L M G | N L L H L G p.320
. . . . . . g.27090
TCCCTCAGCCCCAGAGTGTTAGAGGAGGAGACAGATGGGTTCGTGAGTTTGCTCACCCAG c.1020
S L S P R V L E E E T D G F V S L L T Q p.340
. . . . . . g.27150
ACGCTGTGCTACTGTCGGAAGTATGTGTCTCAGAAGAAGTCCAACCTGACCCACTGGCAT c.1080
T L C Y C R K Y V S Q K K S N L T H W H p.360
. . . | 13 . . g.28770
CCTGTCCTTGGCTGGTTCTCCCAATCTGTGGATTATGG | CCTTAACGAGTCAATGCACTTG c.1140
P V L G W F S Q S V D Y G | L N E S M H L p.380
. . . . . . g.28830
ATCACCAAACAGCTGCAGTTCTTGTGGGGGGTGCCTCTGATCCGGATCTTCTTCTGTGAC c.1200
I T K Q L Q F L W G V P L I R I F F C D p.400
. . . . . . g.28890
ATCCTGAGCAAGAAGCTACTGGAGAGCCAGGAGCCAGCCCACGCACAGCCAGCATCCCCT c.1260
I L S K K L L E S Q E P A H A Q P A S P p.420
. . | 14 . . . . g.30438
CAGAATGTGCTCCCAGTGAAGA | GTCTCCTAAAGCGTGCTTTTCAAAAGTCGGCATCAGTC c.1320
Q N V L P V K S | L L K R A F Q K S A S V p.440
. . . . . . g.30498
CGGAATATTCTCAGGCCTGTCGGGGGTAAACGGGTCGACTCTGCAGAAGTCCAGAAGGTT c.1380
R N I L R P V G G K R V D S A E V Q K V p.460
. . . . . . g.30558
TGCAACATCTGTGTCCTCTACCAGACCTCGCTGACAACTCTCACACAGATTCGGCTGCAG c.1440
C N I C V L Y Q T S L T T L T Q I R L Q p.480
. | 15 . . . . . g.34991
ATACTCACAG | GTCTCACTTACCTTGATGACCTGCTTCCCAAACTGTGGGCATTTATCTGT c.1500
I L T G | L T Y L D D L L P K L W A F I C p.500
. . . . . . g.35051
GAGCTCGGGCCCCACGGAGGGTTAAAGCTCTTCTTGGAATGCCTGAACAATGACACTGAA c.1560
E L G P H G G L K L F L E C L N N D T E p.520
. . . . . . g.35111
GAGTCCAAGCAACTCTTGGCCATGCTGATGCTGTTCTGTGACTGTTCGCGGCACCTCATC c.1620
E S K Q L L A M L M L F C D C S R H L I p.540
| 16 . . . . . . g.37031
AC | AATCCTTGATGACATTGAAGTTTATGAAGAACAGATTTCATTCAAACTGGAAGAGCTG c.1680
T | I L D D I E V Y E E Q I S F K L E E L p.560
. . . . . . g.37091
GTCACTATCTCCTCTTTCCTGAATTCTTTTGTGTTTAAGATGATCTGGGATGGAATTGTA c.1740
V T I S S F L N S F V F K M I W D G I V p.580
| 17 . . . . . . g.37780
G | AGAACGCCAAGGGTGAGACCTTGGAGCTGTTCCAGTCTGTCCACGGGTGGCTTATGGTG c.1800
E | N A K G E T L E L F Q S V H G W L M V p.600
. . . . . | 18 . g.38585
CTGTACGAGCGGGACTGCCGGCGGCGCTTCACCCCCGAGGACCACTGGCTGCGAAA | GGAT c.1860
L Y E R D C R R R F T P E D H W L R K | D p.620
. . . . . . g.38645
CTCAAACCTAGCGTGCTCTTCCAAGAACTCGACAGGGACAGAAAACGGGCACAGTTGATC c.1920
L K P S V L F Q E L D R D R K R A Q L I p.640
. . . | 19 . . . g.44166
CTGCAGTACATCCCACATGTCATCCCTCACAAAAAC | AGAGTTCTACTGTTTCGAACCATG c.1980
L Q Y I P H V I P H K N | R V L L F R T M p.660
. . . . . . g.44226
GTTACCAAGGAGAAGGAGAAACTGGGGCTGGTGGAAACCAGCTCTGCCTCCCCGCATGTC c.2040
V T K E K E K L G L V E T S S A S P H V p.680
. . . | 20 . . . g.48549
ACTCACATCACCATCCGCCGGTCCAGGATGCTGGAG | GACGGCTACGAGCAGCTTAGGCAG c.2100
T H I T I R R S R M L E | D G Y E Q L R Q p.700
. . . . . . g.48609
CTCTCCCAGCACGCCATGAAGGGGGTCATCCGTGTGAAGTTTGTCAATGACCTCGGGGTG c.2160
L S Q H A M K G V I R V K F V N D L G V p.720
. . . . . . g.48669
GACGAAGCAGGGATTGATCAAGACGGTGTTTTTAAGGAGTTCTTGGAAGAGATCATCAAG c.2220
D E A G I D Q D G V F K E F L E E I I K p.740
. . . | 21 . . . g.48845
AGAGTTTTTGACCCAGCACTCAATCTGTTCAAG | ACAACCAGTGGGGATGAGAGGCTGTAC c.2280
R V F D P A L N L F K | T T S G D E R L Y p.760
. . . . . . g.48905
CCCTCACCCACATCCTACATCCATGAGAATTACCTGCAGCTCTTCGAGTTTGTGGGGAAG c.2340
P S P T S Y I H E N Y L Q L F E F V G K p.780
. . | 22 . . . . g.51391
ATGCTGGGGAAGGCTGTGTATGAG | GGAATTGTGGTGGACGTGCCATTTGCATCCTTCTTC c.2400
M L G K A V Y E | G I V V D V P F A S F F p.800
. . . . . . g.51451
CTGAGCCAACTGCTTGGGCACCACCACAGCGTCTTCTATAGCTCGGTGGATGAACTGCCT c.2460
L S Q L L G H H H S V F Y S S V D E L P p.820
. . . . | 23 . . g.51833
TCTCTGGACTCCGAGTTCTATAAAAACCTCACCTCCATCAAG | CGCTATGATGGGGACATC c.2520
S L D S E F Y K N L T S I K | R Y D G D I p.840
. . . . | 24 . g.53747
ACTGACCTGGGCCTGACGCTGTCTTACGACGAGGACGTCATGGGTCAG | CTTGTTTGCCAT c.2580
T D L G L T L S Y D E D V M G Q | L V C H p.860
. . . . | 25. . g.57280
GAACTGATTCCTGGAGGGAAGACCATTCCTGTTACAAATGAAAATAA | AATTAGCTACATC c.2640
E L I P G G K T I P V T N E N K | I S Y I p.880
. . . . . . g.57340
CATCTGATGGCACATTTTCGAATGCACACTCAAATAAAAAACCAAACAGCTGCCCTCATT c.2700
H L M A H F R M H T Q I K N Q T A A L I p.900
. . . . . . g.57400
AGCGGATTCCGTTCCATTATCAAACCCGAGTGGATCCGAATGTTCTCAACTCCTGAACTG c.2760
S G F R S I I K P E W I R M F S T P E L p.920
. . . . . | 26 . g.57934
CAGCGTCTCATCTCTGGCGACAATGCTGAGATTGATCTGGAAGATTTAAA | GAAGCACACA c.2820
Q R L I S G D N A E I D L E D L K | K H T p.940
. . . . . . g.57994
GTCTACTACGGTGGTTTCCATGGAAGTCACAGAGTCATCATCTGGCTCTGGGATATTCTG c.2880
V Y Y G G F H G S H R V I I W L W D I L p.960
. . . . | 27 . . g.60861
GCCTCCGACTTCACACCGGATGAGAGAGCTATGTTTCTGAAG | TTCGTGACCAGCTGCTCC c.2940
A S D F T P D E R A M F L K | F V T S C S p.980
. . . . . . g.60921
AGACCCCCGCTCCTGGGATTCGCCTACCTCAAGCCTCCATTCTCCATCCGCTGCGTGGAG c.3000
R P P L L G F A Y L K P P F S I R C V E p.1000
. | 28 . . . . . g.62013
GTGTCGGACGATCAG | GACACCGGGGACACTCTGGGCAGCGTCCTCCGGGGCTTCTTCACC c.3060
V S D D Q | D T G D T L G S V L R G F F T p.1020
. . . . . . g.62073
ATCCGCAAGCGGGAGCCAGGCGGCCGCCTGCCCACCTCCTCCACCTGCTTCAACCTGCTC c.3120
I R K R E P G G R L P T S S T C F N L L p.1040
. . . . . . g.62133
AAGCTGCCCAACTACAGCAAGAAGAGCGTCCTCCGCGAGAAGCTGCGCTACGCCATCAGC c.3180
K L P N Y S K K S V L R E K L R Y A I S p.1060
. . g.62160
ATGAACACGGGCTTTGAACTCTCCTAG c.3207
M N T G F E L S X p.1068
. . . . . . g.62220
ctcctgtcccagccctgcctccagggctcctgggctgccagggaccttcagctcccagag c.*60
. . . . . . g.62280
gcagtgtggtcctgggaatgtgaccaacatgccaggtgacattggcccctagaccctctc c.*120
. . . . . . g.62340
tatagccatgagactccttgtggcctcaagaaatttagacgcccacgacagcactacaca c.*180
. . . . . . g.62400
gcatctccaggtgatgcccaaggcacagggctgcagaaaataaacctccagattccacca c.*240
. . . . . . g.62460
acacgggtccattcttcctggtgatggcagaggggcttcttttagctagtttgatctttt c.*300
. . . . . . g.62520
gggagtctgtctttccttagccgtctgagtgagctgtgtatgaacaagtcccaggagttc c.*360
. . . . . . g.62580
caagagtctagagtggtttttgcagcatgggttgagtgtacaaagcctactgtgcgtgag c.*420
. . . . . . g.62640
atcctctccttccgtttctgaaatctcttactcaggtaaggcctcgccaagcctctatgc c.*480
. . . . . . g.62700
accccacaaagtttctgcctccatgccgtccacagcgcctcttcccagacagccaggccc c.*540
. . . . . . g.62760
atctgctgcccagggaagcgcaggcgcctgctagggacgctatggacaccgtgagtccaa c.*600
. . . . . . g.62820
ggcgctgctcctgccttgaagccacgcgctccacgccgcggccctcccattttctgcgtc c.*660
. . . . . . g.62880
ctcagcgggctgagctgccagagagtcttcccggacctattcccgtcctatgcattcaca c.*720
. . . . . . g.62940
ttggcatcctggtttgggggaagaaaaacaacggcccttagcagcagccccgtttccaga c.*780
. . . . . . g.63000
atgtgctgcctgttccccaaagcctgcttgtcccgcggaggacggctgcctttgaccctg c.*840
. . . . . . g.63060
cttatttgtctcactggttatctaatgaggaacaaacactaacctaaggtacacatccca c.*900
. . . . . . g.63120
tctgggcggtggcttcactcctgagtctgcaaaatcccaggaaacttgggtcttgctgcc c.*960
. . . . . . g.63180
catccttcctcagcacagggaacccggaagcccgttgcactgacagaggctcacaccctc c.*1020
. . . . . . g.63240
tgggttttttgttttttttttaaacttcatttctcttccaacccattgtgttcctctgcc c.*1080
. . . . . . g.63300
ctcattctttacctttgttgtaagaactttagctccagggaactgaggcagaggccctgt c.*1140
. . . . . . g.63360
ttgtggtctgtgttgacagccacccaccctctcccacctcatgctcctgcacctgcacca c.*1200
. . . . . . g.63420
ccaaggttgatgccggattcgaagccaggaaggcccagtccctcctctgctctcctcaaa c.*1260
. . . . . . g.63480
gacgcaaaacattttccaacaagagctgtcacagtggcagcaaagcaggggccacccgtc c.*1320
. . . . . . g.63540
tccacagtccttcagagtttcagctgcatcctggtgtcccacccaggtcgagcccccagg c.*1380
. . . . . . g.63600
cttctggaaaagagtgtgtgctctactttgatggaaacatggcaaggaatttaaagacag c.*1440
. . . . . . g.63660
gaatgtattaatattattgaaggtgtgttcgtaacctctgattctgtggacttgccactt c.*1500
. . . . . . g.63720
tctccaaacgctcggttcctttgaagatttcttctgaacgtgtgtgcgcacgctgggcgg c.*1560
. . . . . . g.63780
gttcgtgcatacatgcggggaccccagactgtcagcacagggaagatggatcccatccta c.*1620
. . . . . . g.63840
atttttatcacctgaaggttggaaccagtgagggactgggagagagtgatttataagcac c.*1680
. . . . . . g.63900
caatatcaacttcatgtggatttttgacaaggaggggtagtttgtaatttcatttaaatt c.*1740
. . . . . . g.63960
cttttcagcagctggaaatattgcactatctgaaacactgaatctccttttgtaactggt c.*1800
. . . . . . g.64020
gttcactgacaccttgatggctcttgatggctctaaaaagttgtaggattttttgttttt c.*1860
. . . . . . g.64080
gtagctaacttatggattgagatgtgatcaaaggctttattaaatttgtacttcagcata c.*1920
g.64083
tga c.*1923
(downstream sequence)
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