(used for variant description)
(last modified February 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_014314.3 in the DDX58 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000009.11, covering DDX58 transcript NM_014314.3.
(upstream sequence)
. . . g.5038
tagttattaaagttcctatgcagctccgcctcgcgtcc c.-121
. . . . . . g.5098
ggcctcatttcctcggaaaatccctgctttccccgctcgccacgccctcctcctacccgg c.-61
. . . . . . g.5158
ctttaaagctagtgaggcacagcctgcggggaacgtagctagctgcaagcagaggccggc c.-1
. . . . . . g.5218
ATGACCACCGAGCAGCGACGCAGCCTGCAAGCCTTCCAGGATTATATCCGGAAGACCCTG c.60
M T T E Q R R S L Q A F Q D Y I R K T L p.20
. . . . | 02 . . g.30399
GACCCTACCTACATCCTGAGCTACATGGCCCCCTGGTTTAGGGAGG | AAGAGGTGCAGTAT c.120
D P T Y I L S Y M A P W F R E E | E V Q Y p.40
. . . . . . g.30459
ATTCAGGCTGAGAAAAACAACAAGGGCCCAATGGAGGCTGCCACACTTTTTCTCAAGTTC c.180
I Q A E K N N K G P M E A A T L F L K F p.60
. . . . . . g.30519
CTGTTGGAGCTCCAGGAGGAAGGCTGGTTCCGTGGCTTTTTGGATGCCCTAGACCATGCA c.240
L L E L Q E E G W F R G F L D A L D H A p.80
| 03 . . . . . . g.37441
G | GTTATTCTGGACTTTATGAAGCCATTGAAAGTTGGGATTTCAAAAAAATTGAAAAGTTG c.300
G | Y S G L Y E A I E S W D F K K I E K L p.100
. . . . . . g.37501
GAGGAGTATAGATTACTTTTAAAACGTTTACAACCAGAATTTAAAACCAGAATTATCCCA c.360
E E Y R L L L K R L Q P E F K T R I I P p.120
. . . . . . g.37561
ACCGATATCATTTCTGATCTGTCTGAATGTTTAATTAATCAGGAATGTGAAGAAATTCTA c.420
T D I I S D L S E C L I N Q E C E E I L p.140
| 04 . . . . . . g.38843
CAG | ATTTGCTCTACTAAGGGGATGATGGCAGGTGCAGAGAAATTGGTGGAATGCCTTCTC c.480
Q | I C S T K G M M A G A E K L V E C L L p.160
. . . . . . g.38903
AGATCAGACAAGGAAAACTGGCCCAAAACTTTGAAACTTGCTTTGGAGAAAGAAAGGAAC c.540
R S D K E N W P K T L K L A L E K E R N p.180
. . . | 05 . . . g.39933
AAGTTCAGTGAACTGTGGATTGTAGAGAAAG | GTATAAAAGATGTTGAAACAGAAGATCTT c.600
K F S E L W I V E K G | I K D V E T E D L p.200
. . . . . . g.39993
GAGGATAAGATGGAAACTTCTGACATACAGATTTTCTACCAAGAAGATCCAGAATGCCAG c.660
E D K M E T S D I Q I F Y Q E D P E C Q p.220
. . . | 06 . . . g.41902
AATCTTAGTGAGAATTCATGTCCACCTTCAG | AAGTGTCTGATACAAACTTGTACAGCCCA c.720
N L S E N S C P P S E | V S D T N L Y S P p.240
. . . . . . g.41962
TTTAAACCAAGAAATTACCAATTAGAGCTTGCTTTGCCTGCTATGAAAGGAAAAAACACA c.780
F K P R N Y Q L E L A L P A M K G K N T p.260
. | 07 . . . . g.42478
ATAATATGTGCTCCTACAG | GTTGTGGAAAAACCTTTGTTTCACTGCTTATATGTGAACAT c.840
I I C A P T G | C G K T F V S L L I C E H p.280
. . . . . . g.42538
CATCTTAAAAAATTCCCACAAGGACAAAAGGGGAAAGTTGTCTTTTTTGCGAATCAGATC c.900
H L K K F P Q G Q K G K V V F F A N Q I p.300
. . . . . | 08 . g.43128
CCAGTGTATGAACAGCAGAAATCTGTATTCTCAAAATACTTTGAAAGACATGG | GTATAGA c.960
P V Y E Q Q K S V F S K Y F E R H G | Y R p.320
. . . . . . g.43188
GTTACAGGCATTTCTGGAGCAACAGCTGAGAATGTCCCAGTGGAACAGATTGTTGAGAAC c.1020
V T G I S G A T A E N V P V E Q I V E N p.340
. . . . . . g.43248
AATGACATCATCATTTTAACTCCACAGATTCTTGTGAACAACCTTAAAAAGGGAACGATT c.1080
N D I I I L T P Q I L V N N L K K G T I p.360
. . . . . . g.43308
CCATCACTATCCATCTTTACTTTGATGATATTTGATGAATGCCACAACACTAGTAAACAA c.1140
P S L S I F T L M I F D E C H N T S K Q p.380
. . . . . . g.43368
CACCCGTACAATATGATCATGTTTAATTATCTAGATCAGAAACTTGGAGGATCTTCAGGC c.1200
H P Y N M I M F N Y L D Q K L G G S S G p.400
. | 09 . . . . . g.43739
CCACTGCCCCAG | GTCATTGGGCTGACTGCCTCGGTTGGTGTTGGGGATGCCAAAAACACA c.1260
P L P Q | V I G L T A S V G V G D A K N T p.420
. . . . . . g.43799
GATGAAGCCTTGGATTATATCTGCAAGCTGTGTGCTTCTCTTGATGCGTCAGTGATAGCA c.1320
D E A L D Y I C K L C A S L D A S V I A p.440
. . . . . | 10 . g.46050
ACAGTCAAACACAATCTGGAGGAACTGGAGCAAGTTGTTTATAAGCCCCAGAAGT | TTTTC c.1380
T V K H N L E E L E Q V V Y K P Q K F | F p.460
. . . . . . g.46110
AGGAAAGTGGAATCACGGATTAGCGACAAATTTAAATACATCATAGCTCAGCTGATGAGG c.1440
R K V E S R I S D K F K Y I I A Q L M R p.480
. . . . | 11 . . g.49847
GACACAGAGAGTCTGGCAAAGAGAATCTGCAAAGACCTCG | AAAACTTATCTCAAATTCAA c.1500
D T E S L A K R I C K D L E | N L S Q I Q p.500
. . . . . . g.49907
AATAGGGAATTTGGAACACAGAAATATGAACAATGGATTGTTACAGTTCAGAAAGCATGC c.1560
N R E F G T Q K Y E Q W I V T V Q K A C p.520
. . . . . . g.49967
ATGGTGTTCCAGATGCCAGACAAAGATGAAGAGAGCAGGATTTGTAAAGCCCTGTTTTTA c.1620
M V F Q M P D K D E E S R I C K A L F L p.540
. | 12 . . . . g.51012
TACACTTCACATTTGCGG | AAATATAATGATGCCCTCATTATCAGTGAGCATGCACGAATG c.1680
Y T S H L R | K Y N D A L I I S E H A R M p.560
. . . . . . g.51072
AAAGATGCTCTGGATTACTTGAAAGACTTCTTCAGCAATGTCCGAGCAGCAGGATTCGAT c.1740
K D A L D Y L K D F F S N V R A A G F D p.580
. . . | 13 . . . g.54219
GAGATTGAGCAAGATCTTACTCAGAGATTTGAAG | AAAAGCTGCAGGAACTAGAAAGTGTT c.1800
E I E Q D L T Q R F E E | K L Q E L E S V p.600
. . . . . . g.54279
TCCAGGGATCCCAGCAATGAGAATCCTAAACTTGAAGACCTCTGCTTCATCTTACAAGAA c.1860
S R D P S N E N P K L E D L C F I L Q E p.620
. . . . . . g.54339
GAGTACCACTTAAACCCAGAGACAATAACAATTCTCTTTGTGAAAACCAGAGCACTTGTG c.1920
E Y H L N P E T I T I L F V K T R A L V p.640
| 14 . . . . . . g.58316
GAC | GCTTTAAAAAATTGGATTGAAGGAAATCCTAAACTCAGTTTTCTAAAACCTGGCATA c.1980
D | A L K N W I E G N P K L S F L K P G I p.660
. . . | 15 . . . g.63418
TTGACTGGACGTGGCAAAACAAATCAGAACACAG | GAATGACCCTCCCGGCACAGAAGTGT c.2040
L T G R G K T N Q N T G | M T L P A Q K C p.680
. . . . . . g.63478
ATATTGGATGCATTCAAAGCCAGTGGAGATCACAATATTCTGATTGCCACCTCAGTTGCT c.2100
I L D A F K A S G D H N I L I A T S V A p.700
. . . . . . g.63538
GATGAAGGCATTGACATTGCACAGTGCAATCTTGTCATCCTTTATGAGTATGTGGGCAAT c.2160
D E G I D I A Q C N L V I L Y E Y V G N p.720
. . | 16 . . . . g.64918
GTCATCAAAATGATCCAAACCAGAG | GCAGAGGAAGAGCAAGAGGTAGCAAGTGCTTCCTT c.2220
V I K M I Q T R G | R G R A R G S K C F L p.740
. . . . . . g.64978
CTGACTAGTAATGCTGGTGTAATTGAAAAAGAACAAATAAACATGTACAAAGAAAAAATG c.2280
L T S N A G V I E K E Q I N M Y K E K M p.760
. . . . . | 17. g.71813
ATGAATGACTCTATTTTACGCCTTCAGACATGGGACGAAGCAGTATTTAGGGAAAAG | ATT c.2340
M N D S I L R L Q T W D E A V F R E K | I p.780
. . . . . . g.71873
CTGCATATACAGACTCATGAAAAATTCATCAGAGATAGTCAAGAAAAACCAAAACCTGTA c.2400
L H I Q T H E K F I R D S Q E K P K P V p.800
. . . . . . g.71933
CCTGATAAGGAAAATAAAAAACTGCTCTGCAGAAAGTGCAAAGCCTTGGCATGTTACACA c.2460
P D K E N K K L L C R K C K A L A C Y T p.820
. . | 18 . . . . g.73945
GCTGACGTAAGAGTGATAGAG | GAATGCCATTACACTGTGCTTGGAGATGCTTTTAAGGAA c.2520
A D V R V I E | E C H Y T V L G D A F K E p.840
. . . . . . g.74005
TGCTTTGTGAGTAGACCACATCCCAAGCCAAAGCAGTTTTCAAGTTTTGAAAAAAGAGCA c.2580
C F V S R P H P K P K Q F S S F E K R A p.860
. . . . . . g.74065
AAGATATTCTGTGCCCGACAGAACTGCAGCCATGACTGGGGAATCCATGTGAAGTACAAG c.2640
K I F C A R Q N C S H D W G I H V K Y K p.880
. . . . . . g.74125
ACATTTGAGATTCCAGTTATAAAAATTGAAAGTTTTGTGGTGGAGGATATTGCAACTGGA c.2700
T F E I P V I K I E S F V V E D I A T G p.900
. . . . . . g.74185
GTTCAGACACTGTACTCGAAGTGGAAGGACTTTCATTTTGAGAAGATACCATTTGATCCA c.2760
V Q T L Y S K W K D F H F E K I P F D P p.920
. g.74203
GCAGAAATGTCCAAATGA c.2778
A E M S K X p.925
. . . . . . g.74263
tatcaggtcctcaatcttcagctacagggaatgagtaactttgagtggagaagaaacaaa c.*60
. . . . . . g.74323
catagtgggtataatcatggatcgcttgtacccctgtgaaaatatattttttaaaaatat c.*120
. . . . . . g.74383
ctttagcagtttgtactatattatatatgcaaagcacaaatgagtgaatcacagcactga c.*180
. . . . . . g.74443
gtattttgtaggccaacagagctcatagtacttgggaaaaattaaaaagcctcatttcta c.*240
. . . . . . g.74503
gccttctttttagagtcaactgccaacaaacacacagtaatcactctgtacacactggga c.*300
. . . . . . g.74563
tagatgaatgaatggaatgttgggaatttttatctccctttgtctccttaacctactgta c.*360
. . . . . . g.74623
aactggcttttgcccttaacaatctactgaaattgttcttttgaaggttaccagtgactc c.*420
. . . . . . g.74683
tggttgccaaatccactgggcacttcttaaccttctatttgacctctgcgcatttggccc c.*480
. . . . . . g.74743
tgttgagcactcttcttgaagctctccctgggcttctctctcttctagttctattctagt c.*540
. . . . . . g.74803
ctttttttattgagtcctcctctttgctgatcccttccaagggttcaatatatatacatg c.*600
. . . . . . g.74863
tatatactgtacatatgtatatgtaactaatatacatacatacaggtatgtatatgtaat c.*660
. . . . . . g.74923
ggttatatgtactcatgttcctggtgtagcaacgtgtggtatggctacacagagaacatg c.*720
. . . . . . g.74983
agaacataaagccatttttatgcttactactaaaagctgtccactgtagagttgctgtat c.*780
. . . . . . g.75043
gtagcaatgtgtatccactctacagtggtcagcttttagtagagagcataaaaatgataa c.*840
. . . . . . g.75103
aatacttcttgaaaacttagtttactatacatcttgccctattaatatgttctcttaacg c.*900
. . . . . . g.75163
tgtgccattgttctctttgaccattttcctataatgatgttgatgttcaacacctggact c.*960
. . . . . . g.75223
gaatgtctgttctcagatcccttggatgttacagatgaggcagtctgactgtcctttcta c.*1020
. . . . . . g.75283
cttgaaagattagaatatgtatccaaatggcattcacgtgtcacttagcaaggtttgctg c.*1080
. . . . . . g.75343
atgcttcaaagagcttagtttgcggtttcctggacgtggaaacaagtatctgagttccct c.*1140
. . . . . . g.75403
ggagatcaacgggatgaggtgttacagctgcctccctcttcatgcaatctggtgagcagt c.*1200
. . . . . . g.75463
ggtgcaggcggggagccagagaaacttgccagttatataacttctctttggcttttcttc c.*1260
. . . . . . g.75523
atctgtaaaacaaggataatactgaactgtaagggttagtggagagtttttaattaaaag c.*1320
. . . . . . g.75583
aatgtgtgaaaagtacatgacacagtagttgcttgataatagttactagtagtagtattc c.*1380
. . . . . . g.75643
ttactaagacccaatacaaatggattatttaaaccaagtttatgagttggttttttttca c.*1440
. . . . . . g.75703
ttttctatttgtattttattaagagtgtcttttcttatgtgattttttttaattgctatt c.*1500
. . . . . . g.75763
tgatatggtttggctatatgtccccacccaaatctcatcttgaattataatccccatgtg c.*1560
. . . . . . g.75823
tcaagggagggacctgacgggaggtgattggatcacgggggcagttgtccccatgctgtt c.*1620
. . . . . . g.75883
cttgggatagtgagttagttctcatgagatctgatggttttataagtgtttgacaattcc c.*1680
. . . . . . g.75943
tcctttacacacactctctctctcatctgctgccatgtaagacttgcctgcttccccttc c.*1740
. . . . . . g.76003
tgccatgattgtaagtttcctgaggcctcctcagccatgtggaactgtgaatctattaag c.*1800
. . g.76023
cctcttttctttataaatga c.*1820
(downstream sequence)
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