(used for variant description)
(last modified June 8, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_080632.2 in the UPF3B gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000023.10, covering UPF3B transcript NM_080632.2.
(upstream sequence)
. . . . g.5040
gcatttgttgggggcggagctttgacgggagcttcccggg c.-61
. . . . . . g.5100
agccgtttgtgcccggggtaaccccgttccggccaagccgcttcagcgggggacgtagcc c.-1
. . . . . . g.5160
ATGAAGGAAGAGAAGGAGCACAGGCCTAAGGAGAAGCGAGTAACCCTGTTAACCCCCGCC c.60
M K E E K E H R P K E K R V T L L T P A p.20
. . . . . . g.5220
GGGGCCACAGGCAGCGGTGGTGGGACCTCGGGGGACAGCTCCAAGGGGGAAGATAAGCAG c.120
G A T G S G G G T S G D S S K G E D K Q p.40
. . . | 02 . . . g.6179
GATCGCAACAAGGAGAAGAAAGAAGCGCTGAGCAAG | GTGGTAATTCGAAGATTACCTCCC c.180
D R N K E K K E A L S K | V V I R R L P P p.60
. . . . . . g.6239
ACTTTGACCAAGGAGCAGCTTCAGGAACATCTTCAACCTATGCCTGAGCATGATTATTTT c.240
T L T K E Q L Q E H L Q P M P E H D Y F p.80
. . | 03 . . . . g.6464
GAGTTTTTTTCTAATGATACGAG | TTTGTATCCTCATATGTATGCCAGAGCATACATCAAC c.300
E F F S N D T S | L Y P H M Y A R A Y I N p.100
. . . . . . g.6524
TTTAAAAACCAAGAGGACATTATTTTGTTCAGGGATCGCTTTGATGGTTATGTATTCCTT c.360
F K N Q E D I I L F R D R F D G Y V F L p.120
. | 04 . . . . . g.12782
GACAATAAAG | GTCAGGAATATCCCGCTATAGTAGAATTTGCACCTTTTCAAAAAGCTGCA c.420
D N K G | Q E Y P A I V E F A P F Q K A A p.140
. . . . | 05 . g.14738
AAAAAGAAGACTAAGAAAAGAGATACCAAAGTCGGGACTATCGATGATG | ATCCAGAATAT c.480
K K K T K K R D T K V G T I D D D | P E Y p.160
. . . . . . g.14798
AGAAAGTTTTTGGAAAGTTATGCCACAGATAATGAGAAAATGACATCTACTCCAGAGACA c.540
R K F L E S Y A T D N E K M T S T P E T p.180
. . . . | 06 . . g.16270
CTGCTAGAGGAAATAGAAGCAAAAAATAGAGAATTAATAG | CTAAAAAGACAACCCCACTT c.600
L L E E I E A K N R E L I A | K K T T P L p.200
. . | 07 . . . . g.16806
TTGAGCTTCCTGAAAAACAAGCAG | AGAATGAGAGAAGAAAAGAGAGAAGAAAGGAGGAGG c.660
L S F L K N K Q | R M R E E K R E E R R R p.220
. . . . . . g.16866
AGAGAAATAGAAAGAAAAAGACAAAGAGAAGAAGAGAGGAGGAAATGGAAAGAAGAAGAG c.720
R E I E R K R Q R E E E R R K W K E E E p.240
. . . . . . g.16926
AAACGAAAAAGGAAAGATATAGAAAAGCTAAAGAAGATAGACAGAATTCCAGAAAGGGAC c.780
K R K R K D I E K L K K I D R I P E R D p.260
. . | 08. . . . g.17377
AAATTAAAGGATGAACCAAAGATTAAG | GTACACAGGTTTCTGTTACAAGCTGTGAATCAG c.840
K L K D E P K I K | V H R F L L Q A V N Q p.280
| 09 . . . . . . g.19555
AAAAAT | CTGCTCAAGAAGCCAGAAAAAGGAGATGAAAAAGAATTGGACAAAAGAGAAAAA c.900
K N | L L K K P E K G D E K E L D K R E K p.300
. . . . . . g.19615
GCCAAGAAATTGGACAAAGAGAATCTCAGTGATGAAAGAGCCAGTGGGCAAAGTTGTACA c.960
A K K L D K E N L S D E R A S G Q S C T p.320
. . . . | 10. . g.19990
TTGCCCAAGCGTTCTGATAGCGAACTTAAAGATGAAAAACCAAAGAG | ACCTGAAGATGAG c.1020
L P K R S D S E L K D E K P K R | P E D E p.340
. . . . . . g.20050
AGCGGCAGAGACTATAGGGAGAGGGAACGGGAATATGAACGAGATCAGGAGCGCATACTT c.1080
S G R D Y R E R E R E Y E R D Q E R I L p.360
. . . . . . g.20110
CGAGAAAGAGAGAGGCTGAAGCGGCAAGAAGAAGAGCGCCGTAGGCAGAAGGAGCGCTAT c.1140
R E R E R L K R Q E E E R R R Q K E R Y p.380
. . . . . . g.20170
GAGAAAGAGAAGACTTTTAAGAGAAAAGAAGAAGAAATGAAAAAAGAGAAAGACACACTT c.1200
E K E K T F K R K E E E M K K E K D T L p.400
. . . . . . g.20230
CGGGATAAAGGAAAGAAGGCTGAAAGTACAGAATCAATAGGCAGCTCAGAAAAAACTGAA c.1260
R D K G K K A E S T E S I G S S E K T E p.420
. . . . | 11 . . g.23019
AAGAAAGAAGAAGTGGTCAAGAGAGATCGAATAAGAAACAAG | GATCGTCCAGCGATGCAG c.1320
K K E E V V K R D R I R N K | D R P A M Q p.440
. . . . . . g.23079
CTTTACCAACCAGGAGCTCGAAGCCGAAATCGACTCTGTCCCCCTGATGACAGCACCAAG c.1380
L Y Q P G A R S R N R L C P P D D S T K p.460
. . . . . . g.23139
TCTGGAGATTCAGCAGCAGAAAGGAAGCAGGAAAGTGGTATTAGCCATAGAAAAGAAGGA c.1440
S G D S A A E R K Q E S G I S H R K E G p.480
. g.23151
GGAGAGGAGTGA c.1452
G E E X p.483
. . . . . . g.23211
taagtccagatggccttaggtgtcctgactgtctaggcagccaaagagcacacgttaagc c.*60
. . . . . . g.23271
aatccagaggtgccttcagggcaaagaatagagagaaagggagccgctgtgctggtgggg c.*120
. . . . . . g.23331
tacactgcagaggagtaagtcttgtgtcaaagcaggaatctgatcagaggttcagaattg c.*180
. . . . . . g.23391
gaagtacaatttcattgcttttgcaatttctacaaattaattttaaagtgtcagaaaaag c.*240
. . . . . . g.23451
gtgacggcaaggacatgcattgcaatttgcagggggaattgtcaagtgaggacttcatca c.*300
. . . . . . g.23511
catatgacacgagagaaaagtaagagctggttctaaaatcaaaagctgttgttcatcctg c.*360
. . . . . . g.23571
aattgaattttctgaatttgggtggagcagagtcgctttgaagccttgttccgatctaat c.*420
. . . . . . g.23631
tctattgtattgttgatgataagtgttgacattgggtagtgtagaagcaacaagcatgtc c.*480
. . . . . . g.23691
cttgtagtacaggtacagtgaaggatagaacacactttcgttgatacaaaaatttaaata c.*540
. . . . . . g.23751
gttatgttacttctgtatccagtgtcctaaagttttaggattagttttagttttttgttt c.*600
. . . . . . g.23811
gcttatatgagcttagcgtaaagaatatttttaaacttcgtgttttgtcatcagcatctt c.*660
. . . . . . g.23871
ttctattaagaggtaaaatgtagtccttgtttgactcttgacaatccagtgtgtttgatc c.*720
. . . . . . g.23931
ttaggtctcatgatctgagtgcataccctctccaggaaggaaactgcaccagtgtctatt c.*780
. . . . . . g.23991
cctgttaaatagcaacttttagtctcagcttgtttcgttttgatgtcaataaatagtaac c.*840
. g.24003
agcattcaagtg c.*852
(downstream sequence)
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