(used for variant description)
(last modified September 10, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_004247.3 in the EFTUD2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering EFTUD2 transcript NM_004247.3.
(upstream sequence)
. . g.5021
atcctcagctctcaccctctt c.-241
. . . . . . g.5081
tggagcagcccacgtcttgggctactcgtcttggggacccgctactccgccttgccagtc c.-181
. . . . . . g.5141
cgcggcgggcatacctcggaactggtcctcaggcagagggttgtcctcccgggcagaaag c.-121
. . . . . . g.5201
gcgacagcggcgtctgcggggtccttcctggcggcgggcgcaggcgtttcctcggcgtgg c.-61
. . . . . . | 02 g.10104
ggcggaagcacgatctccggcagcggcctgggaactcttagctgagcaggcgagag | catc c.-1
. . . . . . g.10164
ATGGATACCGACTTATATGATGAGTTTGGGAATTATATTGGACCAGAGCTTGATTCTGAT c.60
M D T D L Y D E F G N Y I G P E L D S D p.20
. . . . | 03 . . g.17890
GAAGATGATGATGAATTGGGTAGAGAGACCAAAGATCTTGATGAG | ATGGATGATGATGAC c.120
E D D D E L G R E T K D L D E | M D D D D p.40
. . . . . . g.17950
GACGACGATGACGTAGGAGATCATGACGATGACCACCCTGGGATGGAGGTGGTGCTGCAT c.180
D D D D V G D H D D D H P G M E V V L H p.60
. . . . . . g.18010
GAGGACAAGAAGTACTACCCAACAGCCGAGGAGGTGTATGGTCCTGAGGTGGAGACCATA c.240
E D K K Y Y P T A E E V Y G P E V E T I p.80
. . . | 04 . . . g.19320
GTTCAAGAGGAAGACACTCAGCCTCTCACAG | AACCCATTATTAAGCCAGTGAAAACCAAG c.300
V Q E E D T Q P L T E | P I I K P V K T K p.100
. . . . . | 05 . g.20911
AAATTCACTCTGATGGAGCAGACATTACCTGTTACGGTGTATGAGATGGA | TTTCTTGGCG c.360
K F T L M E Q T L P V T V Y E M D | F L A p.120
. . . . . . g.20971
GATCTGATGGATAACTCAGAGCTCATCAGAAATGTGACCCTTTGTGGACATCTCCACCAT c.420
D L M D N S E L I R N V T L C G H L H H p.140
| 06 . . . . . . g.21521
GGCAAG | ACATGTTTTGTGGATTGTTTAATTGAACAGACTCACCCGGAAATCAGAAAGCGC c.480
G K | T C F V D C L I E Q T H P E I R K R p.160
. | 07 . . . | 08 . g.23993
TATGACCAAGAT | CTGTGCTATACTGACATCCTCTTCACAGAGCAAGAG | AGAGGTGTAGGC c.540
Y D Q D | L C Y T D I L F T E Q E | R G V G p.180
. . . . . . g.24053
ATCAAAAGCACTCCTGTGACAGTGGTCTTGCCAGACACCAAAGGAAAATCTTATCTCTTC c.600
I K S T P V T V V L P D T K G K S Y L F p.200
. | 09 . . . . g.25028
AATATCATGGACACTCCAG | GACATGTGAATTTCTCTGATGAGGTCACAGCTGGCTTGCGC c.660
N I M D T P G | H V N F S D E V T A G L R p.220
. . . . | 10 . . g.28543
ATCTCAGATGGAGTGGTCCTTTTCATTGATGCTGCTGAGGGG | GTGATGCTGAACACAGAG c.720
I S D G V V L F I D A A E G | V M L N T E p.240
. . . . . . g.28603
CGGCTGATCAAGCATGCGGTGCAGGAGAGGCTGGCAGTCACTGTGTGCATCAACAAGATT c.780
R L I K H A V Q E R L A V T V C I N K I p.260
. . . . . . g.28663
GACCGGCTGATCCTGGAGCTGAAGCTGCCTCCAACTGATGCTTATTACAAGCTGCGCCAC c.840
D R L I L E L K L P P T D A Y Y K L R H p.280
. . | 11 . . . g.32086
ATTGTGGATGAGGTCAATGGATTAATAAG | CATGTATTCCACTGATGAGAACCTGATCCTT c.900
I V D E V N G L I S | M Y S T D E N L I L p.300
. . . . . . g.32146
TCCCCACTCCTGGGTAACGTCTGCTTCTCCAGCTCCCAGTACAGCATCTGCTTCACGCTG c.960
S P L L G N V C F S S S Q Y S I C F T L p.320
. . . | 12 . . . g.36301
GGCTCCTTTGCCAAGATCTATGCCGACACCTTTG | GTGACATTAATTACCAAGAATTTGCT c.1020
G S F A K I Y A D T F G | D I N Y Q E F A p.340
. . . | 13 . . g.36750
AAAAGACTCTGGGGTGACATCTACTTCAACCCTAAGAC | GCGAAAGTTCACCAAAAAGGCC c.1080
K R L W G D I Y F N P K T | R K F T K K A p.360
. . . . . . g.36810
CCAACTAGCAGCTCCCAGAGAAGTTTCGTGGAGTTTATCTTGGAGCCTCTTTATAAGATC c.1140
P T S S S Q R S F V E F I L E P L Y K I p.380
| 14 . . . . . g.39611
CTCGCCCAG | GTTGTAGGTGACGTGGACACCAGCCTCCCACGGACCCTAGACGAGCTTGGC c.1200
L A Q | V V G D V D T S L P R T L D E L G p.400
. . . . . . g.39671
ATCCACCTGACGAAGGAGGAGCTGAAGCTGAACATCCGCCCCTTGCTCAGGCTGGTCTGC c.1260
I H L T K E E L K L N I R P L L R L V C p.420
. . | 15 . . . . g.40878
AAAAAGTTCTTTGGCGAGTTCACAG | GCTTTGTGGACATGTGTGTGCAGCATATCCCTTCT c.1320
K K F F G E F T G | F V D M C V Q H I P S p.440
. . . . . . g.40938
CCAAAGGTGGGCGCCAAGCCCAAGATTGAGCACACCTACACCGGTGGTGTGGACTCCGAC c.1380
P K V G A K P K I E H T Y T G G V D S D p.460
. . . | 16 . . . g.41746
CTCGGCGAGGCTATGAGTGACTGTGACCCTGAT | GGCCCCCTGATGTGCCACACTACTAAG c.1440
L G E A M S D C D P D | G P L M C H T T K p.480
. . . . . . g.41806
ATGTACAGCACAGATGATGGAGTCCAGTTTCACGCCTTTGGCCGGGTGCTGAGTGGCACC c.1500
M Y S T D D G V Q F H A F G R V L S G T p.500
. . . . . . g.41866
ATTCATGCTGGGCAGCCTGTGAAGGTACTGGGGGAGAACTACACCCTGGAGGATGAGGAA c.1560
I H A G Q P V K V L G E N Y T L E D E E p.520
. . . . | 17. . g.44095
GACTCCCAGATATGCACCGTGGGCCGCCTTTGGATCTCTGTGGCCAG | GTACCACATCGAG c.1620
D S Q I C T V G R L W I S V A R | Y H I E p.540
. . . . . . g.44155
GTGAACCGTGTTCCTGCTGGCAACTGGGTTCTGATTGAAGGTGTTGATCAACCAATTGTG c.1680
V N R V P A G N W V L I E G V D Q P I V p.560
. . . | 18 . . g.44601
AAGACAGCAACCATAACCGAACCCCGAGGCAATGAGGAG | GCTCAGATTTTCCGACCCTTG c.1740
K T A T I T E P R G N E E | A Q I F R P L p.580
. . . . . . g.44661
AAGTTCAATACCACATCTGTTATCAAGATTGCTGTGGAGCCAGTCAACCCCTCAGAGCTG c.1800
K F N T T S V I K I A V E P V N P S E L p.600
. . . . . . g.44721
CCCAAGATGCTTGATGGCCTGCGCAAGGTCAACAAGAGCTATCCATCCCTCACCACCAAG c.1860
P K M L D G L R K V N K S Y P S L T T K p.620
| 19 . . . . . . g.45504
| GTGGAGGAGTCTGGCGAGCATGTGATCCTGGGCACTGGGGAGCTCTACCTGGACTGTGTG c.1920
| V E E S G E H V I L G T G E L Y L D C V p.640
. . . . | 20 . . g.47486
ATGCATGATTTGCGGAAGATGTACTCAGAGATAGACATCAAG | GTGGCTGACCCAGTTGTC c.1980
M H D L R K M Y S E I D I K | V A D P V V p.660
. . . . . . g.47546
ACGTTTTGTGAGACGGTGGTGGAAACATCCTCCCTCAAGTGCTTTGCTGAAACGCCTAAT c.2040
T F C E T V V E T S S L K C F A E T P N p.680
| 21 . . . . . . g.49676
AAGAA | GAACAAGATCACCATGATTGCTGAGCCTCTTGAGAAGGGCCTGGCAGAGGACATA c.2100
K K | N K I T M I A E P L E K G L A E D I p.700
. . . | 22 . . . g.49971
GAGAATGAGGTGGTCCAGATTACGTGGAACAG | GAAGAAGCTGGGAGAGTTCTTCCAGACC c.2160
E N E V V Q I T W N R | K K L G E F F Q T p.720
. . . . . . g.50031
AAGTACGATTGGGATCTGCTGGCTGCCCGTTCCATCTGGGCTTTTGGCCCTGATGCGACT c.2220
K Y D W D L L A A R S I W A F G P D A T p.740
. . . | 23 . . g.50290
GGCCCCAACATTCTGGTGGATGATACTCTGCCCTCTGAG | GTGGACAAGGCTCTTCTTGGT c.2280
G P N I L V D D T L P S E | V D K A L L G p.760
. . . . . . g.50350
TCAGTGAAGGACAGCATCGTTCAAGGTTTCCAGTGGGGAACCAGGGAGGGCCCCCTCTGT c.2340
S V K D S I V Q G F Q W G T R E G P L C p.780
| 24. . . . . . g.51043
GATGAAT | TGATTCGGAATGTCAAGTTTAAGATCCTGGATGCGGTGGTTGCCCAGGAGCCC c.2400
D E L | I R N V K F K I L D A V V A Q E P p.800
. . . . . . g.51103
CTGCACCGGGGCGGGGGCCAGATCATCCCCACAGCCAGGAGAGTCGTCTACTCTGCCTTC c.2460
L H R G G G Q I I P T A R R V V Y S A F p.820
| 25 . . . . . . g.51289
CTCATG | GCTACTCCTCGTCTGATGGAGCCTTACTACTTTGTAGAGGTCCAGGCCCCTGCA c.2520
L M | A T P R L M E P Y Y F V E V Q A P A p.840
. . . . | 26 . . g.52082
GATTGCGTCTCTGCAGTTTATACCGTCCTGGCCAGGCGCAG | GGGGCACGTGACTCAGGAT c.2580
D C V S A V Y T V L A R R R | G H V T Q D p.860
. . . . . . g.52142
GCACCCATCCCAGGCTCCCCTCTGTACACCATCAAAGCTTTTATCCCGGCCATCGACTCT c.2640
A P I P G S P L Y T I K A F I P A I D S p.880
. . . . . . g.52202
TTTGGCTTTGAGACTGATCTCCGGACTCACACCCAGGGACAAGCCTTTTCTCTGTCTGTC c.2700
F G F E T D L R T H T Q G Q A F S L S V p.900
. | 27 . . . . . g.52853
TTCCACCACTGGCAG | ATTGTGCCTGGTGATCCCCTGGACAAGAGCATTGTCATCCGCCCC c.2760
F H H W Q | I V P G D P L D K S I V I R P p.920
. . . . . . g.52913
TTGGAGCCACAGCCAGCTCCTCACCTGGCCCGGGAATTCATGATCAAAACCCGCCGTAGG c.2820
L E P Q P A P H L A R E F M I K T R R R p.940
| 28 . . . . . . g.53313
AAG | GGCCTCAGTGAAGATGTGAGCATCAGCAAATTCTTCGATGATCCTATGTTGCTGGAA c.2880
K | G L S E D V S I S K F F D D P M L L E p.960
. . . g.53352
CTTGCCAAACAGGATGTTGTGCTCAATTACCCCATGTGA c.2919
L A K Q D V V L N Y P M X p.972
. . . . . . g.53412
gtgcgtggactcctgggagctcctgctccctacagtgggctgcaactcctgtacttgaag c.*60
. . . . . . g.53472
ctgagacctcatatgacgtggccttcgtgttgtcagagagtgtctggaagctgctgttgc c.*120
. . . . . . g.53532
catcttgaacaactcaccaacctccaacccagagccccagtgagagaggagcatttggcc c.*180
. . . . . . g.53592
tcctgcttccttctgtggcctctgccgggctccattcccaaggaaaagagaggagcttgg c.*240
. . . . . . g.53652
gctcacagaaagagaaggggatgaaaccccaaggggccctatctttgggatttacatgga c.*300
. . . . . . g.53712
attttattttctacaagtttgaccttagccatggtttgcaagtgaacagaacattctgac c.*360
. . . . . . g.53772
ctctgtcttgctctgctcctttcatcctcgtctcccctgccccgtctggtgcttacattc c.*420
. . . . . . g.53832
tgaatatatgtcatctcccaagaggcttcactgcctctgcttccagctgcagcctccttc c.*480
. . . . . . g.53892
ctgcctgggtccccagggaagccgcctgccttttaattcagtgttcccatgagcgccaag c.*540
. . . . . . g.53952
gccccattattgcccccttgctcccactccatgctgcttctgggtggaacctaagatggc c.*600
. . . . . . g.54012
ttgggagttgttgggttcctgcgatcagaagtctaccccaccacctcctcaggaaactgc c.*660
. . . . . . g.54072
tgcctcccctaagaatcttccttgccctggagtagggggccagagcactttgatttccag c.*720
. . . . . . g.54132
ccatttactccaagtcctctccccagctaccaccagtcccttactctgttctcccccagt c.*780
. . . . . . g.54192
gaaaaagagtctgttgattttcctcaaaactgctttattaggaatgtaccagggattgag c.*840
. . . . . . g.54252
ttaggggagttggacagccccggctcctataggagtcctacttctctccagcatcctgtg c.*900
. . . . . . g.54312
ccatcctcttgacgtaatcgctgtacattgtgtacacagcacctgtgtgagagaaaagaa c.*960
. . g.54339
ataatgccccttggcatcaaacccttc c.*987
(downstream sequence)
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