(used for variant description)
(last modified February 18, 2019)
This file was created to facilitate the description of sequence variants on transcript NM_001034116.1 in the EIF2B4 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_009305.1, covering EIF2B4 transcript NM_001034116.1.
(upstream sequence)
. . g.5023
gaaattgtagtccgattggggct c.-121
. . . . . . g.5083
gcgcgcttcgcttctgcggctcagcctccagcccaggtggcgctgtggaccctgcagccg c.-61
. . . . . . g.5143
cggagcgaggcagcggggcggctccgtgaccacggcgggcggagcctaggactgagggcg c.-1
. . . | 02 . . . g.5567
ATGGCTGCTGTGGCCGTGGCTGTTCGCGAGG | ACTCGGGATCCGGGATGAAGGCGGAGCTT c.60
M A A V A V A V R E D | S G S G M K A E L p.20
. | 03 . . . . . g.5953
CCCCCTGGGCCTGGG | GCAGTGGGGAGGGAAATGACCAAAGAAGAAAAGCTGCAGCTTCGG c.120
P P G P G | A V G R E M T K E E K L Q L R p.40
. . . . . . g.6013
AAGGAAAAGAAACAGCAGAAGAAGAAACGGAAGGAAGAAAAGGGGGCAGAACCAGAGACT c.180
K E K K Q Q K K K R K E E K G A E P E T p.60
. . . | 04 . . . g.6274
GGCTCTGCTGTATCTGCAGCCCAATGTCAAG | TAGGCCCAACCAGAGAACTGCCAGAATCG c.240
G S A V S A A Q C Q V | G P T R E L P E S p.80
. . . . . . g.6334
GGCATTCAGTTGGGCACTCCTCGGGAGAAAGTTCCAGCTGGTCGGAGTAAGGCCGAACTT c.300
G I Q L G T P R E K V P A G R S K A E L p.100
. . . . . . g.6394
CGGGCTGAGCGTCGAGCCAAGCAGGAGGCCGAGCGGGCCCTGAAACAGGCAAGAAAAGGG c.360
R A E R R A K Q E A E R A L K Q A R K G p.120
. . . . . | 05 g.6726
GAACAAGGAGGACCACCTCCTAAGGCCAGCCCCAGCACAGCTGGAGAAACCCCCTCAG | GA c.420
E Q G G P P P K A S P S T A G E T P S G | p.140
. . . . . . g.6786
GTGAAGCGTCTCCCTGAGTACCCTCAGGTTGATGACCTACTTCTGAGAAGGCTTGTTAAA c.480
V K R L P E Y P Q V D D L L L R R L V K p.160
. | 06 . . . . g.7036
AAACCAGAGCGTCAACAG | GTTCCTACACGAAAGGATTATGGATCCAAAGTCAGTCTCTTC c.540
K P E R Q Q | V P T R K D Y G S K V S L F p.180
. . . . . | 07 . g.7328
TCTCACCTACCCCAGTACAGCAGACAAAACTCTCTGACCCAGTTTATGAG | CATCCCATCC c.600
S H L P Q Y S R Q N S L T Q F M S | I P S p.200
. . . . . . g.7388
TCTGTGATCCACCCAGCCATGGTGCGACTCGGCCTGCAGTACTCCCAGGGCCTGGTCAGT c.660
S V I H P A M V R L G L Q Y S Q G L V S p.220
. . . . | 08 . . g.7650
GGCTCCAATGCCCGGTGTATTGCCCTGCTTCGTGCCTTGCAGCAG | GTGATTCAGGATTAC c.720
G S N A R C I A L L R A L Q Q | V I Q D Y p.240
. . . . . . g.7710
ACAACACCGCCTAATGAAGAACTCTCCAGGGATCTAGTGAATAAACTAAAACCCTACATG c.780
T T P P N E E L S R D L V N K L K P Y M p.260
| 09 . . . . . . g.7956
AG | CTTCCTGACTCAGTGCCGTCCCCTGTCAGCGAGCATGCACAACGCCATCAAGTTCCTT c.840
S | F L T Q C R P L S A S M H N A I K F L p.280
. . . . | 10 . . g.8271
AACAAGGAAATCACCAGTGTGGGCAGTTCCAAGCGGGAAGAGGAG | GCCAAGTCAGAACTT c.900
N K E I T S V G S S K R E E E | A K S E L p.300
. . . . . . g.8331
CGAGCAGCCATTGATCGGTATGTGCAAGAGAAGATTGTGCTAGCAGCTCAGGCAATTTCA c.960
R A A I D R Y V Q E K I V L A A Q A I S p.320
. . . . . | 11 . g.8528
CGCTTTGCTTACCAGAAGATCAGTAATGGAGATGTGATCCTGGTATATGGATG | CTCATCT c.1020
R F A Y Q K I S N G D V I L V Y G C | S S p.340
. . . . . . g.8588
CTGGTATCACGAATTCTTCAGGAGGCTTGGACAGAGGGCCGGCGGTTTCGGGTGGTAGTG c.1080
L V S R I L Q E A W T E G R R F R V V V p.360
. . . . . . g.8648
GTGGACAGCCGGCCATGGCTGGAAGGAAGGCACACACTACGTTCTCTAGTCCATGCTGGT c.1140
V D S R P W L E G R H T L R S L V H A G p.380
. . . . . | 12 . g.10568
GTCCCAGCCTCCTACCTGCTGATTCCTGCAGCCTCCTATGTGCTCCCAGAG | GTTTCCAAG c.1200
V P A S Y L L I P A A S Y V L P E | V S K p.400
. . . . . . g.10628
GTGCTATTGGGAGCTCATGCACTCTTGGCCAACGGGTCTGTGATGTCACGGGTAGGGACA c.1260
V L L G A H A L L A N G S V M S R V G T p.420
. . . . . . g.10688
GCACAGTTAGCCCTGGTGGCTCGAGCCCATAATGTACCAGTGCTGGTTTGCTGTGAAACA c.1320
A Q L A L V A R A H N V P V L V C C E T p.440
. . . . . | 13 . g.10866
TACAAGTTCTGTGAGCGTGTGCAGACTGATGCCTTTGTCTCTAATGAGCTAG | ATGACCCT c.1380
Y K F C E R V Q T D A F V S N E L D | D P p.460
. . . . . . g.10926
GATGATCTGCAATGTAAGCGGGGAGAACATGTTGCGCTGGCTAACTGGCAGAACCACGCA c.1440
D D L Q C K R G E H V A L A N W Q N H A p.480
. . . . . . g.10986
TCCCTACGGTTGTTGAATCTAGTCTATGATGTGACTCCCCCAGAGCTTGTGGATCTGGTG c.1500
S L R L L N L V Y D V T P P E L V D L V p.500
. . . . . . g.11046
ATCACGGAGCTGGGGATGATCCCTTGCAGTTCTGTACCTGTTGTTCTACGAGTCAAGAGC c.1560
I T E L G M I P C S S V P V V L R V K S p.520
. g.11058
AGTGACCAGTGA c.1572
S D Q X p.523
. . . . g.11106
cgggggaaacacagggttaataaatgccatactccctaccctcagcaa c.*48
(downstream sequence)
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