(used for variant description)
(last modified January 10, 2023)
This file was created to facilitate the description of sequence variants on transcript NM_003905.3 in the NAE1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000016.9, covering NAE1 transcript NM_003905.3.
(upstream sequence)
. g.5017
agtgcgcctgcgcgctt c.-61
. . . . . . g.5077
gtggagctggtggcggcgctccgcaggggctcggctgttttccgcgcggcaggcgcggcc c.-1
. . . . . | 02 . g.9203
ATGGCGCAGCTGGGAAAGCTGCTCAAGGAGCAGAAGTACGACCGGCAGCTGAG | GTTGTGG c.60
M A Q L G K L L K E Q K Y D R Q L R | L W p.20
. . . . . . g.9263
GGTGATCATGGGCAAGAGGCTTTAGAATCTGCTCATGTTTGCCTAATAAATGCAACAGCC c.120
G D H G Q E A L E S A H V C L I N A T A p.40
. . . | 03. . . g.9416
ACAGGAACTGAAATTCTTAAAAACTTGGTACTACCAG | GTATTGGTTCGTTTACAATTATT c.180
T G T E I L K N L V L P G | I G S F T I I p.60
. . . | 04 . . g.11113
GATGGAAATCAGGTCAGCGGAGAAGATGCTGGAAACAA | TTTCTTCCTTCAAAGAAGCAGT c.240
D G N Q V S G E D A G N N | F F L Q R S S p.80
| 05 . . . . . g.12427
ATCGGCAAG | AACCGAGCTGAAGCTGCCATGGAATTCTTACAAGAATTAAATAGCGATGTC c.300
I G K | N R A E A A M E F L Q E L N S D V p.100
. . | 06 . . . . g.12709
TCTGGAAGTTTTGTGGAAGAG | AGTCCAGAAAACCTTCTAGACAATGATCCCTCATTTTTC c.360
S G S F V E E | S P E N L L D N D P S F F p.120
. . . . | 07 . . g.14436
TGTAGGTTTACTGTTGTAGTTGCAACTCAGCTTCCTGAAAG | CACTTCACTACGCTTAGCA c.420
C R F T V V V A T Q L P E S | T S L R L A p.140
. . . . . . g.14496
GATGTCCTCTGGAATTCCCAGATTCCTCTTTTGATCTGTAGGACATATGGACTAGTTGGT c.480
D V L W N S Q I P L L I C R T Y G L V G p.160
. . . | 08 . . . g.17368
TATATGAGGATCATTATAAAAGAACATCCAG | TAATAGAATCTCATCCAGATAATGCATTA c.540
Y M R I I I K E H P V | I E S H P D N A L p.180
. . . . . . g.17428
GAGGATCTACGACTAGATAAGCCATTTCCTGAACTGAGAGAACATTTTCAGTCCTATGAT c.600
E D L R L D K P F P E L R E H F Q S Y D p.200
. . | 09 . . . . g.18528
TTGGATCATATGGAAAAAAAG | GACCACAGTCATACTCCATGGATTGTGATCATAGCTAAA c.660
L D H M E K K | D H S H T P W I V I I A K p.220
. . | 10 . . . . g.18984
TATTTAGCACAGTGGTATAGTGAA | ACAAATGGACGAATACCTAAAACGTATAAAGAAAAA c.720
Y L A Q W Y S E | T N G R I P K T Y K E K p.240
. . | 11 . . . g.19336
GAGGACTTCAGAGATTTGATTAGACAAG | GAATTCTAAAAAATGAAAATGGGGCTCCAGAA c.780
E D F R D L I R Q G | I L K N E N G A P E p.260
. . . . . . g.19396
GATGAAGAGAATTTTGAAGAAGCTATTAAAAATGTGAACACAGCACTAAATACAACTCAG c.840
D E E N F E E A I K N V N T A L N T T Q p.280
| 12 . . . . . . g.22190
| ATCCCAAGCAGTATTGAAGATATATTTAATGATGATCGCTGCATAAATATCACCAAACAG c.900
| I P S S I E D I F N D D R C I N I T K Q p.300
| 13 . . . . . . g.22339
| ACTCCATCATTTTGGATTTTAGCTCGTGCCTTAAAGGAATTTGTGGCCAAAGAGGGTCAA c.960
| T P S F W I L A R A L K E F V A K E G Q p.320
. . . . . . g.22399
GGAAATTTACCTGTTCGAGGCACAATTCCTGATATGATTGCAGATTCAGGCAAATATATA c.1020
G N L P V R G T I P D M I A D S G K Y I p.340
. | 14 . . . . . g.25250
AAACTGCAAAACGT | TTACCGTGAAAAAGCAAAGAAAGATGCTGCCGCTGTGGGTAATCAT c.1080
K L Q N V | Y R E K A K K D A A A V G N H p.360
. . . | 15 . . . g.25593
GTTGCCAAATTGCTGCAGTCCATTGGCCAG | GCACCAGAGTCCATTTCAGAGAAAGAATTA c.1140
V A K L L Q S I G Q | A P E S I S E K E L p.380
. | 16 . . . . . g.26951
AAATTACTCT | GCAGCAATTCTGCATTTCTTCGAGTGGTAAGATGTCGATCCTTAGCTGAA c.1200
K L L C | S N S A F L R V V R C R S L A E p.400
. . . | 17. . . g.27386
GAATATGGTTTGGATACAATTAACAAGGATGAAATTA | TTTCTAGCATGGACAATCCAGAT c.1260
E Y G L D T I N K D E I I | S S M D N P D p.420
. . . . . . g.27446
AATGAAATAGTGTTGTACTTAATGTTACGGGCTGTTGATAGATTTCATAAACAACAGGGT c.1320
N E I V L Y L M L R A V D R F H K Q Q G p.440
. | 18 . . . . . g.30000
AGATATCCAG | GAGTATCTAACTATCAAGTTGAAGAAGATATAGGAAAGTTGAAGTCTTGT c.1380
R Y P G | V S N Y Q V E E D I G K L K S C p.460
. . . . . . g.30060
CTCACTGGCTTCCTTCAGGAATATGGTTTATCTGTAATGGTGAAAGATGATTATGTCCAC c.1440
L T G F L Q E Y G L S V M V K D D Y V H p.480
| 19 . . . . . | 20 . g.32863
GAATT | TTGCCGATATGGAGCTGCTGAGCCACATACCATTGCTGCATTCTTGGGGG | GAGCT c.1500
E F | C R Y G A A E P H T I A A F L G G | A p.500
. . . . . . g.32923
GCTGCTCAAGAGGTCATCAAAATAATCACCAAACAATTTGTAATTTTTAATAATACTTAC c.1560
A A Q E V I K I I T K Q F V I F N N T Y p.520
. . . . g.32968
ATTTACAGTGGCATGTCACAAACTTCAGCAACTTTCCAGTTGTAG c.1605
I Y S G M S Q T S A T F Q L X p.534
. . . . . . g.33028
agtaagcaagcaccttaagtagtgtgttaatgattgaaactgtaattgccttcgggttgt c.*60
. . . . . . g.33088
gctttagtctgtaaaattctaaaggagagctgctaaattgttttcttaataaacattttt c.*120
. g.33099
ctcatttgtaa c.*131
(downstream sequence)
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