(used for variant description)
(last modified June 23, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_015934.3 in the NOP58 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering NOP58 transcript NM_015934.3.
(upstream sequence)
. . . g.5030
gcagcgtgttctgattctttgcgggacggc c.-121
. . . . . . g.5090
gagcgcatttgtgctttgcccgccgcggcctaggaggccttttgaggccgcgtagtcggt c.-61
. . . . . . g.5150
gtttttgaactgactctacagcttctggcaggccgtgcggcgccctgacccggcctcacc c.-1
. . . . | 02 . . g.14336
ATGTTGGTGCTGTTTGAAACGTCTGTGGGTTACGCCATCTTTAAG | GTTCTAAATGAGAAG c.60
M L V L F E T S V G Y A I F K | V L N E K p.20
. . . . . . g.14396
AAACTTCAAGAGGTTGATAGTTTATGGAAAGAATTTGAAACTCCAGAGAAAGCAAACAAA c.120
K L Q E V D S L W K E F E T P E K A N K p.40
| 03 . . . . . | 04 . g.21564
AT | AGTAAAGCTAAAACATTTTGAGAAATTTCAGGATACAGCAGAAGCATTAGCAG | CATTC c.180
I | V K L K H F E K F Q D T A E A L A A | F p.60
. . . . . . g.21624
ACAGCTCTGATGGAGGGCAAAATCAATAAGCAGCTGAAAAAAGTTCTGAAGAAAATAGTA c.240
T A L M E G K I N K Q L K K V L K K I V p.80
. . . . . | 05. g.23556
AAAGAAGCCCATGAACCGCTGGCAGTAGCTGATGCTAAACTAGGAGGGGTCATAAAG | GAA c.300
K E A H E P L A V A D A K L G G V I K | E p.100
. . . . . . g.23616
AAGCTGAATCTCAGTTGTATCCATAGTCCTGTTGTTAATGAACTTATGAGAGGAATTCGT c.360
K L N L S C I H S P V V N E L M R G I R p.120
. . . . . . g.23676
TCACAAATGGATGGATTAATCCCTGGGGTAGAACCACGTGAAATGGCAGCTATGTGTCTT c.420
S Q M D G L I P G V E P R E M A A M C L p.140
. | 06 . . . . . g.26914
GGATTGGCTCACAG | CCTGTCTCGATATAGATTGAAGTTTAGCGCTGATAAAGTAGACACA c.480
G L A H S | L S R Y R L K F S A D K V D T p.160
. | 07 . . . . g.29572
ATGATTGTTCAGGCAATTT | CCTTGTTAGATGACTTGGATAAAGAACTAAACAACTACATT c.540
M I V Q A I S | L L D D L D K E L N N Y I p.180
. . . . . . g.29632
ATGCGATGTAGAGAATGGTATGGCTGGCATTTCCCTGAATTAGGAAAAATTATTTCAGAT c.600
M R C R E W Y G W H F P E L G K I I S D p.200
. . . | 08 . . . g.30359
AATTTAACATACTGCAAGTGTTTACAGAAAGTTG | GCGATAGGAAGAACTATGCCTCTGCC c.660
N L T Y C K C L Q K V G | D R K N Y A S A p.220
. . . . . . g.30419
AAGCTTTCTGAGTTGCTGCCAGAAGAAGTTGAAGCAGAAGTGAAAGCAGCTGCAGAGATA c.720
K L S E L L P E E V E A E V K A A A E I p.240
. . . . . . g.30479
TCAATGGGAACAGAGGTTTCAGAAGAAGATATTTGCAATATTCTGCATCTTTGCACCCAG c.780
S M G T E V S E E D I C N I L H L C T Q p.260
| 09 . . . . . . g.32045
| GTGATTGAAATCTCTGAATATCGAACCCAGCTCTATGAATATCTACAAAATCGAATGATG c.840
| V I E I S E Y R T Q L Y E Y L Q N R M M p.280
. . . . . . g.32105
GCCATTGCACCCAATGTTACAGTCATGGTTGGGGAATTAGTTGGAGCACGGCTTATTGCT c.900
A I A P N V T V M V G E L V G A R L I A p.300
| 10. . . . . . g.34935
CATGCAG | GTTCTCTTTTAAATTTGGCCAAGCATGCAGCTTCTACCGTTCAGATTCTTGGA c.960
H A G | S L L N L A K H A A S T V Q I L G p.320
. . . . . . g.34995
GCTGAAAAGGCACTTTTCAGAGCCCTCAAATCTAGACGGGATACCCCTAAGTATGGTCTC c.1020
A E K A L F R A L K S R R D T P K Y G L p.340
. . . . . | 11 . g.36596
ATTTATCATGCTTCACTCGTGGGCCAGACAAGTCCCAAACACAAAGGAAAG | ATTTCTCGA c.1080
I Y H A S L V G Q T S P K H K G K | I S R p.360
. . . . . . g.36656
ATGCTGGCAGCCAAAACCGTTTTGGCTATCCGTTATGATGCTTTTGGTGAGGATTCAAGT c.1140
M L A A K T V L A I R Y D A F G E D S S p.380
. . . . . . g.36716
TCTGCAATGGGAGTTGAGAACAGAGCCAAATTAGAGGCCAGGTTGAGAACTTTGGAAGAC c.1200
S A M G V E N R A K L E A R L R T L E D p.400
| 12 . . . . . . g.37107
AGAGGG | ATAAGAAAAATAAGTGGAACAGGAAAAGCATTAGCAAAAACAGAAAAATATGAA c.1260
R G | I R K I S G T G K A L A K T E K Y E p.420
| 13 . . . . . g.39494
CACAAAAG | TGAAGTGAAGACTTACGATCCTTCTGGTGACTCCACACTTCCAACCTGTTCT c.1320
H K S | E V K T Y D P S G D S T L P T C S p.440
. . . . . . g.39554
AAAAAACGCAAAATAGAACAGGTAGATAAAGAGGATGAAATTACTGAAAAGAAAGCCAAA c.1380
K K R K I E Q V D K E D E I T E K K A K p.460
. . | 14 . . . . g.42167
AAAGCCAAGATTAAAGTTAAAG | TTGAAGAAGAGGAAGAAGAAAAAGTGGCAGAAGAAGAA c.1440
K A K I K V K V | E E E E E E K V A E E E p.480
. . . . . . g.42227
GAAACATCTGTGAAGAAGAAGAAGAAAAGGGGTAAAAAGAAACACATTAAGGAAGAACCA c.1500
E T S V K K K K K R G K K K H I K E E P p.500
. . . | 15 . . g.42615
CTTTCTGAGGAAGAACCATGTACCAGCACAGCAATTGCT | AGTCCAGAGAAAAAGAAGAAA c.1560
L S E E E P C T S T A I A | S P E K K K K p.520
. . . g.42645
AAGAAAAAAAAGAGAGAGAACGAGGATTAA c.1590
K K K K R E N E D X p.529
. . . . . . g.42705
cagaaaggaattacgattatatcacccggacacacatcatgcttaagattcaactgggag c.*60
. . . . . . g.42765
cataccagggatgctctctaacgtaatcaagggaaggttcagtaagacaaagtgatttat c.*120
. . . . . . g.42825
catctataacttcaaacctatttgtcttgacatcaactctgttaaccttatgtcatcatt c.*180
. . . . g.42870
tcttagagtctttgatatacaaataaaattttctttgtattttaa c.*225
(downstream sequence)
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