(used for variant description)
(last modified February 18, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001414.3 in the EIF2B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015862.1, covering EIF2B1 transcript NM_001414.3.
(upstream sequence)
. . . g.5039
aagtgacgcacgaggtgctgtgactcgtgccagccccct c.-181
. . . . . . g.5099
aatctgcggaagtggagtgcggggagtgcgccggaagaggggtacggaagtgcgccggaa c.-121
. . . . . . g.5159
gtggggtgcggaggtgtgcagcgcgctgtcagactggctcgcaggcggcgcggccggcgg c.-61
. . . . . . g.5219
acccgttcgagacagcgcgggcggctcgggtcccctggggctccgcagcaggaggacgcc c.-1
. | 02 . . . . . g.6377
ATGGACGACAAGG | AGTTAATTGAATACTTTAAGTCTCAGATGAAAGAAGATCCTGACATG c.60
M D D K E | L I E Y F K S Q M K E D P D M p.20
. . . . . | 03 . g.8248
GCCTCAGCAGTGGCTGCCATCCGGACGTTGCTGGAGTTCTTGAAGAGAGATAAAG | GGGAG c.120
A S A V A A I R T L L E F L K R D K G | E p.40
. . . . . . g.8308
ACAATCCAGGGTCTGAGGGCGAATCTCACCAGTGCCATAGAAACCCTGTGTGGTGTGGAC c.180
T I Q G L R A N L T S A I E T L C G V D p.60
. . . . . . g.8368
TCCTCTGTGGCAGTGTCCTCTGGCGGGGAGCTCTTCCTCCGCTTCATCAGTCTTGCCTCC c.240
S S V A V S S G G E L F L R F I S L A S p.80
. | 04 . . . . . g.8539
CTGGAATACTCC | GATTACTCCAAATGTAAAAAGATCATGATTGAGCGGGGAGAACTTTTT c.300
L E Y S | D Y S K C K K I M I E R G E L F p.100
. . . . . . g.8599
CTCAGGAGAATATCACTGTCAAGAAACAAAATTGCAGATCTGTGCCATACTTTCATCAAA c.360
L R R I S L S R N K I A D L C H T F I K p.120
| 05 . . . . . g.11671
GATGGAGCG | ACAATATTGACTCACGCCTACTCCAGAGTGGTCCTGAGAGTCCTGGAAGCA c.420
D G A | T I L T H A Y S R V V L R V L E A p.140
. . . . . . g.11731
GCCGTGGCGGCCAAGAAGCGATTTAGTGTATACGTCACAGAGTCACAGCCTGATTTGTCA c.480
A V A A K K R F S V Y V T E S Q P D L S p.160
| 06 . . . . . . g.12341
GG | TAAGAAAATGGCCAAAGCCCTCTGCCACCTCAACGTCCCTGTCACTGTGGTGCTAGAT c.540
G | K K M A K A L C H L N V P V T V V L D p.180
. | 07 . . . . . g.13963
GCTGCTGTCGG | CTACATCATGGAGAAAGCAGATCTTGTCATAGTTGGTGCTGAAGGAGTT c.600
A A V G | Y I M E K A D L V I V G A E G V p.200
. . | 08. . . . g.16048
GTTGAAAACGGAGGAATTATTAACAAG | ATTGGAACCAACCAGATGGCTGTGTGTGCCAAA c.660
V E N G G I I N K | I G T N Q M A V C A K p.220
. . . . . . g.16108
GCACAGAACAAACCTTTCTATGTGGTTGCAGAAAGTTTCAAGTTTGTCCGGCTCTTTCCA c.720
A Q N K P F Y V V A E S F K F V R L F P p.240
. . . | 09 . . . g.16883
CTAAACCAGCAAGACGTCCCAGATAAGTTTAAG | TATAAGGCAGACACTCTCAAGGTCGCG c.780
L N Q Q D V P D K F K | Y K A D T L K V A p.260
. . . . . . g.16943
CAGACTGGACAAGACCTCAAAGAGGAGCATCCGTGGGTCGACTACACTGCCCCTTCCTTA c.840
Q T G Q D L K E E H P W V D Y T A P S L p.280
. . . . . . g.17003
ATCACTCTGCTGTTTACAGACCTGGGCGTGCTGACACCCTCAGCAGTCAGCGATGAGCTC c.900
I T L L F T D L G V L T P S A V S D E L p.300
. g.17021
ATCAAGCTCTATCTGTAA c.918
I K L Y L X p.305
. . . . . . g.17081
cctgtgagccctttcctgccaaggtgcagcttacgtagttgaggcagggtgagtagctgc c.*60
. . . . . . g.17141
ttgacaccccagtgagtcaggccaaaactgagatgtgtttaatgaagatttatggagtaa c.*120
. . . . . . g.17201
ggacttaaaatcatacatcttggagaacctttcttactcatttcagtcccatctaaaaat c.*180
. . . . . . g.17261
gtgtcagctattctaaatcccaacttaaattgttcttacggtttctagaaactttccttt c.*240
. . . . . . g.17321
tcagtttccagaaatacaagttagataattggctacttaactgatgaaagatgagcccaa c.*300
. . . . . . g.17381
gtccacctgtcttcatcctcccctgcactccagactgatctgcctaaagcacgcgagatg c.*360
. . . . . . g.17441
caggcgaaaagcagccacacccctctgccacaaatgaccaacagctggtcaggacgttac c.*420
. . . . . . g.17501
acgcggtgccttgtaagaggcaagaaacacttgccgaatctgcatctggcttccagtggt c.*480
. . . . . . g.17561
aagcacattcctcagcaggatcaagccaaacagtaaaaactaccaagagaacacgaggaa c.*540
. . . . . . g.17621
ggcagaaacgatgtttagcaacagtattctgcatggttcactgcttaagaaaatgccttc c.*600
. . . . . . g.17681
tggaatatttgtaaactgaaattctgtatgtgtaagagatgtttaaatatgtttgggtcc c.*660
. . . . . . g.17741
taaacagctttttaaaattatacttgggaataaattcagcatcttttcaaataaactcta c.*720
. g.17754
tgaaagacgctga c.*733
(downstream sequence)
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