(used for variant description)
(last modified February 18, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_020365.4 in the EIF2B3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015864.1, covering EIF2B3 transcript NM_020365.4.
(upstream sequence)
. . . . . g.5026
ctctccgctgagtgtgcttcccctccgtcatccatcgctcggcggtcttctcttctcca c.-181
. . . . . . g.5086
tgggtctgctctgcgcgttccatcgagtttctcggccatcgcgcgcctgcgccattgggc c.-121
. . . . . . g.5146
tgtcagtcagaggcggcgtggagatcgctgggagcggttgcggcgtgccgggagctgagt c.-61
. . . . . . | 02 g.10521
tatagctgtgacttctgccctgccaggccgcacacaagctggctgacccgg | tttgtaaaa c.-1
. . . . . . g.10581
ATGGAATTTCAAGCAGTAGTGATGGCAGTAGGTGGAGGATCTCGGATGACAGACCTAACT c.60
M E F Q A V V M A V G G G S R M T D L T p.20
. . . . . . g.10641
TCCAGCATTCCCAAACCTCTGCTTCCAGTTGGGAACAAACCTTTAATTTGGTACCCATTG c.120
S S I P K P L L P V G N K P L I W Y P L p.40
. . | 03 . . . g.13261
AACCTGCTTGAGCGTGTTGGATTTGAAG | AAGTCATTGTGGTTACAACCAGGGATGTTCAA c.180
N L L E R V G F E E | V I V V T T R D V Q p.60
. . . . . . g.13321
AAGGCTCTATGTGCAGAATTCAAGATGAAAATGAAGCCAGATATTGTGTGTATTCCTGAT c.240
K A L C A E F K M K M K P D I V C I P D p.80
. . . . . | 04 . g.50030
GACGCTGACATGGGAACTGCAGATTCTTTGCGCTACATATATCCAAAACTTAAG | ACAGAT c.300
D A D M G T A D S L R Y I Y P K L K | T D p.100
. . . . . . g.50090
GTGCTGGTGCTGAGCTGTGATCTGATAACAGACGTTGCCTTACATGAGGTTGTGGACCTG c.360
V L V L S C D L I T D V A L H E V V D L p.120
. . . . . . g.50150
TTTAGAGCTTATGATGCATCACTTGCTATGTTGATGAGAAAAGGCCAAGATAGCATAGAA c.420
F R A Y D A S L A M L M R K G Q D S I E p.140
. . . | 05 . . . g.64976
CCTGTTCCCGGTCAAAAGGGGAAAAAAAAAGCAG | TGGAGCAGCGTGACTTCATTGGAGTG c.480
P V P G Q K G K K K A V | E Q R D F I G V p.160
. . . . . . g.65036
GACAGCACAGGAAAGAGGCTGCTCTTCATGGCTAATGAAGCAGACTTGGATGAAGAGCTG c.540
D S T G K R L L F M A N E A D L D E E L p.180
. . | 06 . . . . g.94279
GTCATTAAGGGATCCATCCTACAGAA | GCATCCTAGAATACGTTTCCACACGGGTCTTGTG c.600
V I K G S I L Q K | H P R I R F H T G L V p.200
. . . . . | 07 . g.109954
GATGCCCACCTCTACTGTTTGAAAAAATACATCGTGGATTTCCTAATGGAAAATGG | GTCA c.660
D A H L Y C L K K Y I V D F L M E N G | S p.220
. . . . . . g.110014
ATAACTTCTATCCGGAGTGAACTGATTCCATATTTAGTGAGAAAACAGTTTTCCTCAGCT c.720
I T S I R S E L I P Y L V R K Q F S S A p.240
. . . . . . g.110074
TCCTCACAACAGGGACAAGAAGAAAAAGAGGAGGATCTAAAGAAAAAGGAGCTGAAGTCC c.780
S S Q Q G Q E E K E E D L K K K E L K S p.260
| 08 . . . . . . g.111737
TTAG | ATATCTACAGTTTTATAAAAGAAGCCAATACACTGAACCTGGCTCCCTATGATGCC c.840
L D | I Y S F I K E A N T L N L A P Y D A p.280
. . . . . . g.111797
TGCTGGAATGCCTGTCGAGGAGACAGGTGGGAAGACTTGTCCAGATCACAGGTGCGCTGC c.900
C W N A C R G D R W E D L S R S Q V R C p.300
. . . . . . g.111857
TATGTCCACATCATGAAAGAGGGGCTCTGCTCTCGAGTGAGCACACTGGGACTCTACATG c.960
Y V H I M K E G L C S R V S T L G L Y M p.320
. | 09 . . . . . g.116039
GAAGCAAACAGACAG | GTGCCCAAATTGCTGTCTGCTCTCTGTCCAGAAGAACCACCAGTC c.1020
E A N R Q | V P K L L S A L C P E E P P V p.340
. . . | 10 . . . g.116890
CATTCGTCAGCCCAGATTGTCAGCAAACACCTG | GTTGGAGTTGACAGCCTCATTGGGCCA c.1080
H S S A Q I V S K H L | V G V D S L I G P p.360
. . . . . . g.116950
GAGACACAGATTGGAGAGAAGTCATCCATTAAGCGCTCAGTCATTGGCTCATCCTGTCTC c.1140
E T Q I G E K S S I K R S V I G S S C L p.380
. . . . . . g.117010
ATAAAAGATAGAGTGACTATTACCAATTGCCTTCTCATGAACTCAGTCACTGTGGAGGAA c.1200
I K D R V T I T N C L L M N S V T V E E p.400
| 11 . . . . . . g.133940
GG | AAGCAATATCCAAGGCAGTGTCATCTGCAACAATGCTGTGATCGAGAAGGGTGCAGAC c.1260
G | S N I Q G S V I C N N A V I E K G A D p.420
. . . . | 12 . . g.140700
ATCAAGGACTGCTTGATTGGAAGTGGCCAGAGGATTGAAGCCAAAG | CTAAACGAGTGAAT c.1320
I K D C L I G S G Q R I E A K A | K R V N p.440
. . . g.140739
GAGGTGATCGTGGGGAATGACCAGCTCATGGAGATCTGA c.1359
E V I V G N D Q L M E I X p.452
. . . . . . g.140799
gttctgagcaagtcagactccttccttttggcctccaaagccacagatgttggccggccc c.*60
. . . . . . g.140859
acctgtttaactctgtatttatttcccaataaagaagggcttccaaaggcatgctggaga c.*120
. . . . . . g.140919
cttgtggagcagtccaaagctccatgtcaggtgggctccaggtgtacacagtgtatgttc c.*180
. . . . . . g.140979
atgtgtcatgtggtaaagatcatctggagcaagtgtgtgggacaggacagatacagtggc c.*240
. . . . . . g.141039
ctaactcttgtgtgccaagatgtatcggtggggcagcagctgtccaatgtaaagctccta c.*300
. . . . . . g.141099
ggaaggctactttctgactggctgacccaacccagtcctgaaagtatccctcacctaaaa c.*360
. . . . . . g.141159
ggacctgggagtacttcagtcccttatcctaatcagcctttctagacccataggcctagc c.*420
g.141168
tgctggcag c.*429
(downstream sequence)
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